PredictER News

The End of Embryonic Stem Cell Research in Europe? The European Court of Justice Decision, Case C-34/10, October 18, 2011

2011-12-13T12:20:00.002-05:00

The European Court of Justice (“ECJ”) ruled in the case Brüstle v. Greenpeace (Case C-34/10) brought up by Greenpeace seeking annulment of the German patent – Patent No. DE19756864C1 – held by Mr. Brüstle concerning isolated and purified neural precursor cells, processes for their production from embryonic stem cells and the use of neural precursor cells for the treatment of neural defects. The main focus of the decision is the interpretation of Article 6(2)(c) of Directive 98/44/EC (1998 OJL (L213) 13-18) of the European Parliament and of the Council of 6 July 1998 on the legal protection of biotechnological inventions.

The German Federal Patent Court (Bundespatentgericht, “BPatG”) ruled on December 5, 2006, Case 3 Ni 42/04, on the basis of Paragraph 22(1) German Patent Protection Act (“PatG”) in conjunction with Paragraph 21 Subsection 1 Point 1 PatG in conjunction with Paragraph 2 Subsection 2 Point 3 PatG, that the patent at issue is invalid in so far as it covers precursor cells obtained from human embryonic stem cells and processes for the production of those precursor cells. The court held that the patent also violates the German Embryonic Protection Act (“ESchG”), which prohibits research with human embryos. Mr. Brüstle appealed against the judgment to the German Federal Court of Justice (Bundesgerichtshof, “BGH”), December 17, 2009, Case Xa ZR 58/07.

In accordance with the guiding principles of European Union Law, the national law of the Member States must be interpreted in terms of the rules and regulations set by the European Union; the court held that the outcome of the application for the annulment of the patent de-pends on the interpretation of Article 6 of the Directive, which is implemented in the PatG as well as the ESchG. Thus, the BGH referred specific questions to the ECJ and requested a preliminary ruling regarding:

1. the interpretation of the term “human embryos” in Article 6(2)(c) of the Directive;
2. the interpretation of the expression “uses of human embryos for industrial or commercial purposes” and the question if this especially includes the use for the purposes of scientific research;
3. and if an invention is unpatentable even if the use of human embryos does not form part of the technical teaching claimed with the patent, but whose production necessi-tates the prior destruction of human embryos. See, in detail: Bundesgerichtshof [BGH] [German Federal Court of Justice], December 17, 2009, Case Xa ZR 58/07; ECJ, October 18, 2011, Case C-34/10, para. 23.

The Concept of Human Embryo

Because the Directive lacks a definition of the term “embryo” and after considering the preamble and the scope of the directive, the court ruled:

"any human ovum after fertilisation, any nonfertilised human ovum into which the cell nucleus from a mature human cell has been transplanted, and any nonfertilised human ovum whose division and further development have been stimulated by parthenogenesis constitute[s] a human embryo" (Case C-34/10, para. 53);

"stem cells obtained from a human embryo at the blastocyst stage, […] whether they are capable of commencing the process of development of a human being, […] are included within the concept of human embryo” (Case C-34/10, para. 37).

Human Embryos for Scientific Research

The Directive is limited to the patentability of biotechnological inventions; it does not regulate the use of human embryos in the context of scientific research directly. Considering Recital 14 of the Directive, the court ruled:

"[the] use of human embryos for industrial or commercial purposes' within the meaning of Article 6(2)(c) of the Directive also covers use for purposes of scientific research" and are not patentable;

"only use[s] for therapeutic or diagnostic purposes which [are] applied to the human embryo and are useful to it [are] patentable". (Case C-34/10, para. 46)

Inventions Based on the Destruction of Human Embryos

Taking into account that a human embryo is destroyed when a stem cell is removed during the blastocyst stage, for example, in the production of neural precursor cells (Case C-34/10, para. 48), the court held that when the destruction occurs at a stage long before the implementation of the invention it is irrelevant (Case C-34/10, para. 49). Therefore, the court ruled:

"an invention must be regarded as unpatentable, even if the claims of the patent do not concern the use of human embryos, where the implementation of the invention requires the destruction of human embryos" (Case C-34/10, para. 49);

"the fact that destruction may occur at a stage long before the implementation of the invention, as in the case of the production of embryonic stem cells from a lineage of stem cells the mere production of which implied the destruction of human embryos is, in that regard, irrelevant" (Case C-34/10, para. 49).

This recent decision may do more to impede the progress of embryonic stem cell research in Europe than any inherent limits in the state of science itself. The court used a very broad definition of the term “embryo” without using any scientific reference points. With its definition of “embryo” the court included nearly all possible stages in the development. Although, the court recognized that non-fertilized ova are incapable of developing into a human being, it nonetheless placed them on the same level as an embryo. The implications of this decision are widespread in Europe; the decision is binding and cannot be appealed. It remains to be seen how the German courts and legislature, as well as those of the other Member States will react and comply.

-- Bianca Buechner, Ph.D., LL.M. Candidate
Indiana University Robert H. McKinney School of Law

The Next Ethical Problem in Translational Science: Crossing the "Policy Valley of Death". Eric M. Meslin, PhD. Nov. 14th, 2011

2011-11-11T09:49:00.000-05:00

Join us Monday, November 14th at 3:00 p.m. for a presentation by Eric M. Meslin, The Next Ethical Problem in Translational Science: Crossing the "Policy Valley of Death". Location: Indiana University Center for Bioethics, 410 West 10th Street, Suite 3100, Indianapolis, IN.

This presentation will make the case that there are two gaps to be bridged in successful translational science, one between "the bench and the bedside" and another between the "lab and legislature." Without a sturdy bridge from the lab to the legislature, advances in translational science could be lost to the "policy valley of death."

Two Approaches to Cancer Studies

2011-08-24T13:00:00.007-04:00

Two studies related to the prevention and treatment of cancer will commence in the US and the UK, respectively. The pilot phase of the Stratified Medicine Programme led by Cancer Research UK with support from the public, private, and charitable sectors seeks to provide the first nationwide genetic testing program for cancer patients. Collection and analysis of 9000 samples will be tested for a range of mutations in order to create targeted approaches to cancer treatment for six common cancers: breast, bowel, lung, ovarian, prostate, and melanoma. Existing patients derive the benefit of the targeted tests while researchers generate more data in order to understand underlying genetic factors.

Although the program is in its infancy, one must also ask if access to such personalized treatment is feasible on a national scale. Are such diagnostic techniques and treatments en masse reasonable or attainable? Theoretically, it should be possible to integrate such practice with a reasonable cost savings to the UK National Health Service. According to Harpal Kumar, CEO of Cancer Research UK, targeting medications to specific populations would drive costs down.

"The problem at the moment is that it takes $1bn to get a drug to market and 15 years or more. That is the justification for the pharmaceutical industry charging high prices… If on the other hand by the time you get to phase 2 you know exactly which patients it is going to work on, you only put those patients through and instead of 10% you get an 80% response rate… You get a licence on the basis of the data and don't have to go to phase 3 [a trial involving thousands of people]. That saves vast sums of money and years of development. What that does to the business model is it means you can justify charging lower prices because it cost a lot less in the first place." The Guardian, 22 August 2011

A second concern would be the privacy of patients' health data. According to Cancer Research UK patient, treatment, and outcome data will be provided in a "pseudonymised electronic format." Although research can be conducted without identifying information, the genetic information derived from such tests is, in effect, personally identifying, so can it ever be truly be considered anonymous?

In contrast to the UK study, a longitudinal US study (Cancer Prevention Study-3) sponsored by the American Cancer Society (ACS) will follow 300K people with no personal history of cancer for twenty years in order to understand lifestyle, environmental, and genetic factors that cause or prevent cancer. Unlike the UK study, the ACS study seeks to prevent cancer rather than treat it. The study will collect blood samples, waist measurements, and surveys from study participants. Research subjects derive no direct benefits from the study compared to the UK study; however, ethically speaking the study's website cites specific measures indicated to ensure privacy:

• label your data with a unique identification number when it is collected
• store your blood sample, survey data, and other study materials separately from all personal identifying information (like your name, address, and social security number)
• limit access to any identifying information to authorized study personnel only
• keep study documents in a locked, limited access research storage room
• have all staff sign confidentiality forms and undergo training in research ethics
• have all Volunteers sign confidentiality forms
• not share results with your family, your doctor, your employer, any insurance company, or other third parties and we will keep your records private to the extent allowed by law

--Jimmy P. Daruwala

References

Cookson, Clive. Genetic test promises cancer gains. The Financial Times, Retrieved 23 August 2011.

Boseley, Sarah. Cancer research in 'golden era,' says charity chief. The Guardian, Retrieved 22 August 2011.

Cancer Research UK. Cancer Research UK Stratified Medicine Programme Calls: Frequently Asked Questions, Retrieved 23 August 2011.

American Cancer Society. Cancer Prevention Study 3, Retrieved 24 August 2011.

American Cancer Society. Confidentiality and Ethics CPS-3. Retrieved 24 August 2011.

Second Lawsuit Against Texas Department of State Health Services Over Alleged Misuse of Newborn Blood Spots

2010-12-16T12:25:00.012-05:00

Last week parents in Texas filed a lawsuit against Texas Department of State Health Services (TDSHS) relating to the storage and distribution of their child’s newborn blood spots (NBS). Emerging approximately a year after a settlement over the NBS last December, this news headline looked like déjà vu. The new lawsuit focuses on the gaps of last December’s settlement agreement of the prior case against TDSHS and facts discovered after the settlement.

This separate class action lawsuit led by parent Jeffrey Higgins takes issue with how and for what purposes TDSHS shared the NBS. During the Beleno suit last year, the Beleno plaintiffs repeatedly asked TDSHS with whom they were sharing the NBS and for what purposes. During each of those discussions in the spring of 2009 and before a House Public Health Committee Hearing, TDSHS maintained it shared the NBS for the purpose of public health research but disclosed minimal additional information.

However, a large number of NBS were not used for public health research and this information did not become public until after the settlement. TDSHS numerous NBS to for-profit entities such as Perkin Elmer and bioMerieux in exchange for laboratory supplies. TDSHS only fully shared the extent of how many samples it shared, with what entities it shared the samples, and for what reasons on its website as part of the settlement agreement.

Perhaps most shocking, however, was that TDSHS sent 800 NBS to the Armed Forces Institute of Pathology (AFIP) to build a mitochondrial DNA (mtDNA) registry. AFIP designed this registry as a forensics tool to identify missing persons, solve old crimes, and eventually, share the samples internationally for law enforcement and anti-terrorism efforts. An investigative report that discovered this project surfaced in the media months after the settlement agreement in the Beleno case. [Read our commentary on the mtDNA registry here.]

The Higgins lawsuit focuses on TDSHS’s lack of transparency during the Beleno settlement discussions and alleges that TDSHS intentionally withheld pertinent information that would have substantially altered that case’s discussions and outcome. Similar to the Beleno complaint, Higgins argues that selling or trading the NBS to outside corporations and giving the NBS to the AFIP to build the mtDNA registry rises to Constitutional violations.

First, he maintains that taking his child’s NBS and sharing it with outside entities without consent constitutes a violation of his child’s right against seizure of deeply private genetic information.
Second, he asserts that sharing his child’s NBS without consent constitutes a violation of privacy.

The Higgins complaint emphasizes TDSHS’s alleged failure to disclose significant facts and communicates the plaintiffs’ concerns about misuse of the hundreds of thousands of NBS that were sent to outside entities. Importantly, the settlement agreement last December 2009 only provided that TDSHS was required to destroy the NBS in its possession. This meant the settlement had no legal effect on what other entities did with the NBS they received from TDSHS.

Accordingly, the complaint asks the court for injunctive relief to stop TDSHS from sharing the NBS with outside entities without consent in the future and for the court to order outside entities that previously received the NBS to destroy the blood samples and any associated data they may have. The first request is significant because it directly challenges the current law in Texas that requires parents to opt-out if they do not want TDSHS to use and share their child’s NBS for research and instead argues that TDSHS must actually obtain consent.

Carrie Williams, spokesperson for TDSHS, maintains that these issues have already been resolved and stated that the Texas Civil Rights Project representing the plaintiffs merely wants “to double dip back into this issue with baseless assertions.”

Despite Williams’ response, mounting evidence does show a startling lack of transparency on the part of TDSHS. Furthermore, if the case goes before the same judge that heard the Beleno case, the result may have a substantial impact. As with other highly unexpected court rulings recently relating to gene patents and embryonic stem cell funding, this case could potentially constitute a monumental turn for whether it is acceptable to collect blood to use and share for research by the opt-out method. In the last Beleno case, Judge Biery in the Western District of Texas denied TDSHS’s motion to dismiss, meaning the court planned to hear the merits of the those Constitutional issues. However, before the parties argued the merits they arrived at a settlement agreement, taking the question out of the courtroom.

The case is still in its infancy, and TDSHS has yet to file a response to Higgins’ complaint. As the case progresses and if Judge Biery eventually hears the merits, we may see another highly surprising court ruling impacting future collection of blood for research purposes.

--Katherine Drabiak-Syed

Timeline of Events

March 2001- December 2010: TDSHS sends NBS to outside entities for various other projects.

May 2003: TDSHS sends 200 NBS to the Armed Forces Institute of Pathology to build their mtDNA registry.

December 2006- December 2007: TDSHS sends a total of 3600 NBS to bioMerieux in exchange for laboratory supplies.

May 2007: TDSHS sends 600 NBS to the Armed Forces Institute of Pathology to build their mtDNA registry.

March 2009: Parents led by Andrea Beleno (Beleno plaintiffs) file a complaint against TDSHS.

March 2009: Beleno plaintiffs question where TDSHS has sent the NBS and for what purposes. TDSHS maintains they use and share the NBS for public health research.

December 2009: Beleno plaintiffs and TDSHS settle the lawsuit out of court.

March 2010: An investigative report reveals TDSHS sent a total of 800 NBS to the AFIP’s mtDNA registry. TDSHS spokesperson, Carrie Williams, still asserts that this project falls within the category of “public health research.”

December 2010: Parents led by Jeffrey Higgins file a complaint against TDSHS.

Read past PredictER News coverage relating to newborn blood spots here:

Oklahoma Legislature Requires Express Consent to Retain Newborn Blood Spots

Transparency of Texas' NBS Transfer and Reassessing Evasive Statutory Interpretation

Newborn Blood Spot Banking in Canada

Minnesota Judge's Dismissal of Newborn Blood Spot Case Misses the Mark

Newborn Blood Spot Litigation Continues in Minnesota and Texas

Critiquing HHS's Summary Recommendations on Newborn Blood Spots: Opt-Out is Not Optimal

Newborn Screening: an Update on Minnesota

Minnesota and Genetic Privacy: Why the Rule of Law is Good for Research

See also:

Jere Odell. Newborn Blood Spots, Biobanks, and the Law: Research Ethics in the News. Indiana Bioethics. February 2010.

Katherine Drabiak-Syed. Newborn blood spot banking: approaches to consent. PredictER Law and Policy Update.Indiana University Center for Bioethics. March 12, 2010.

Mercy Health Plan's Medical Data Security Breach Should Inform OCR's Harm Standard

2010-11-10T09:14:00.008-05:00

A recent medical data security breach occurring in Keystone Mercy Health Plan and AmeriHealth Mercy Health Plan in Philadelphia lends support to removing the harm threshold written into the Interim Final Rule of HIPAA and the HITECH Act before promulgating the Final Rule. In August of 2009, the Office of Civil Rights (OCR) published the Interim Final Rule with request for comments on breach notification of protected health information (PHI), which set forth additional definitions and standards to relating to the Privacy Section. OCR is expected to issue the Final Rule by the end of this year or early next year.

When OCR published the Interim Final Rule last year, the media jumped on the inclusion of instructing the covered entity responsible for a breach of PHI to perform a risk assessment as a deciding factor of whether or not to disclose the breach to the individuals and the Department of Health and Human Services (HHS). Eight members of Congress expressed their concern by writing a letter to Kathleen Sebelius, noting that the American Recovery and Reinvestment Act (ARRA) that sets forth the statutory mandates relating to privacy of PHI does not include nor imply a harm standard and urged HHS to repeal or revise the harm threshold standard.

Section 13402 of the ARRA states that health care entities must notify the individual when there is an “unauthorized acquisition, access, use, or disclosure of protected health information which compromises the security or privacy of that information.” In order to decide whether a breach compromises the individual’s security or privacy, the Interim Final Rule set forth a risk assessment criteria and translated a “compromise” of security or privacy to mean a “significant risk of financial, reputational, or other harm” to the individual. Problematically, the covered entity is tasked with assessing the risk of harm to determine whether it meets the threshold for disclosing the breach to the individual and HHS. The Interim Final Rule states that the covered entity should consider to whom the information was disclosed, the type and amount of information, and whether the information contained materials relating to potentially stigmatizing health conditions.

The letter written on behalf of eight Congressional representatives clarified that Congress specifically excluded a threshold for harm when promulgating Section 13402. Furthermore, requiring mandatory disclosure serves as a powerful incentive to health care entities to enact strict privacy and security protections to decrease the likelihood of a breach even occurring.

The Keystone Mercy Health Plan and AmeriHealth Mercy Health Plan (MHP) incident is only the latest in a long line of PHI breaches. In late October, the Philadelphia Inquirer reported that a computer flash drive belonging to Keystone Mercy Health Plan and AmeriHealth Mercy Health Plan (MPH) was lost at a community health fair. The flash drive contained the medical record information of over 280,000 Pennsylvanian Medicaid recipients.

Donna Burtanger, Vice President of Communications at MHP, stated that company representatives were trying to use the health plan members’ PHI to personalize service at community health fairs. Burtanger offered the example of when a health plan member visits a church sponsored health fair, the insurance company representative can access the member’s medical record to schedule an appropriate screening test such as a mammogram.

As one article pointed out, MHP assumes that the patients under the plan would want company employees to have and access the patient’s full medical record or bring that sensitive health information into a less secure location such as a community health fair. This situation highlighted the vast discrepancy between how an insurance company and its members would view the risk-benefit calculation of permitting non-essential access of their sensitive medical information.

If a health insurance company such as MHP does not know when its members would not want their information shared, accessed, or transported, it likely would also face a disconnect when attempting to determine potential harm arising from a breach of its members’ PHI and whether that level of harm would require disclosure of the breach.

OCR should consider whether placing a level of discretion in the hands of health care entities given the knowledge of this difference will build the public’s trust of using electronic health information.

--Katherine Drabiak-Syed

Nuffield Council Reviews DTC Genetic Testing

2010-10-29T17:44:00.004-04:00

The Nuffield Council on Bioethics recently released the results of a two year study: Medical profiling and online medicine: the ethics of 'personalised healthcare' in a consumer age (2010). The report devotes chapters to six "case studies" (these are not formal case studies, but rather topics for investigation), all are relevant to the ethical development and delivery of predictive medicine. The six case studies address: online health information, online personal health records, online purchasing of pharmaceuticals, telemedicine, personal genetic profiling for disease susceptibility, and direct-to-consumer body imaging.

However, the chapter on direct-to-consumer (DTC) genetic testing, 9. Personal genetic profiling for disease susceptibility, will be of particular interest to readers in the States. Three of the big names in DTC genomics are U.S. companies (Navigenics, 23andMe, and Pathway Genomics) and, given the price tag for services, much of the consumers are in the States as well. In general, the Council cautions that DTC genetic testing lacks a sufficient evidence base for reliable clinical use and that consumers should think carefully about the risks. Nevertheless, the workgroup does not oppose the market for DTC genetic testing, but rather advices companies to provide greater transparency regarding the evidence and the potential harms. On the regulatory front, the report proposes prohibiting the market for tests with no proven clinical utility. See 9.45:

We recommend that responsible authorities pay more attention to whether genetic test providers are making clinical claims for their products, even if implied rather than explicit (such as in their ‘customers’ testimonials’). If so, they should ask for evidence to be supplied. We direct this recommendation to authorities responsible for pre-market review and advertising standards, including the Medicines and Healthcare products Regulatory Agency and the Advertising Standards Authority in the UK.

The council also calls for government (UK) websites to publish the risks and limitations of DTC genetics, for restricting pediatric DTC genetic services, and for programs to educate healthcare providers who may need to discuss DTC genetic test results with patients.

In addition to the six "case studies" the report also provides a chapter devoted to ethical values the workgroup identified as well as the process of ethical reasoning it employed. The workgroup the following ethical values to consider:

1. The value of safeguarding private information;

2. The value of individuals being able to pursue their own interests in their own way;

3. The value of efforts by the state to reduce harm;

4. The value of using public resources efficiently and fairly;

5. Sharing risks, protecting the vulnerable: the value of social solidarity.

These values, of course, are often in conflict with each other. Thus, the workgroup employed a practical approach (not to resolve) but to "soften" conflicts, see 3.18:

[T]he approach we follow in this report is not so much to attempt to solve the dilemmas but to propose forms of oversight and voluntary conduct so that society can manage its way around them and reduce the conflict while gaining general assent. This approach means trying to accommodate as many as possible of the different values we have identified without giving one absolute priority over another.

I think this is a pragmatic approach, but (perhaps) too obvious to bear replicating. It might have been more interesting to learn how the workgroup identified the five ethical values it employed.

In addition to its well-considered case studies, and explained ethics practice, the report serves as a valuable review (with an emphasis on the issues in the UK) of the literature on the ethics of personalized and genomic medicine. It can be downloaded at no cost from the Council's website: http://www.nuffieldbioethics.org/

Other Predictive Health Ethics News

Tara Parker-Pope. Taking genetic history to the grave. Well (NYT Blog). October 28, 2010.

Rita Rubin. Most doctors are behind the learning curve on genetic tests. USA Today. October 25, 2010.

Laurie Udesky. The ethics of direct-to-consumer genetic testing. The Lancet. October 23, 2010.

Jessica Reaves. Stem Cell Research Skirts Hurdles, but Raises Ethics Issues, Too. The New York Times. October 22, 2010.

Philippa Brice. Loss of UK genetics public bodies confirmed. PHG Foundation News. October 15, 2010.

Experts warn about genetic tests. Reuters. October 12, 2010.

Matt Ridley. The Failed Promise of Genomics. The Wall Street Journal. October 9, 2010.

Amy Harmon. Stem Cells in Court, Scientists Fear for Careers. The New York Times. October 6, 2010.

Josephine Johnston. America’s Stem Cell Mess. The Scientist. October 1, 2010.

Dan Vorhaus. HHS Pulls the Plug on Genetics Advisory Committee. Genomics Law Report. September 23, 2010.

-- J.O.

Oklahoma Legislature Requires Express Consent to Retain Newborn Blood Spots

2010-09-17T08:22:00.006-04:00

During the past several months, states continue splitting on the issue of how to approach their state health department’s retention and research use of newborn blood spots (NBS).

On September 13, The Edmond Sun ran an article on Oklahoma’s enrolled Senate Bill 1250, a new law that prevents the state health department from storing and using NBS. The text of the law reads:

“A laboratory, medical facility, hospital, or birthing place is prohibited from the unathorized storage, transferring, use, or databasing of DNA from any newborn child without express parental consent.

It being immediately necessary for the preservation of the public peace, health and safety, an emergency is hereby declared to exist…”

Sen. Nichols explained he sponsored the bill as a deliberate pre-emptive measure in response to ethical and privacy concerns related to unauthorized “databasing” and use of NBS in other states. According to Sharon Vaz, the Oklahoma State Department of Health genetics coordinator, Oklahoma only retains the samples for 42 days and does not have plans for long term NBS retention or to use the NBS for research purposes.

Oklahoma’s law demonstrates that different jurisdictions are arriving at starkly divergent interpretations of seemingly simple definitions such as what is or is not encompassed in the meaning of DNA. SB 1250 refers to storing or using DNA, and Sen. Nichols unequivocally explains that he intends this to encompass the retention of NBS- a blood sample. This interpretation is significant because it means the law will use the term DNA to include biological materials from which DNA can be derived.

Unlike Sen. Nichols’ inclusive approach, in late August the Court of Appeals in Minnesota affirmed that NBS do not fall within the definition of “genetic information.” We previously wrote on the Bearder case here. Minnesota has determined that biological samples (such as NBS) that contain DNA and genetic information are not genetic information.

This distinction of separating the source of raw materials (the blood) used for research from the substance of the raw materials (the DNA) is also playing out in the stem cell legal battles- although here, the debate centers around using embryos to create embryonic stem cells v. research using embryonic stem cells. In both arenas, interpreting uncertainty or disagreement of how to apply a law to favor rsearch connects to the decision to splice parts of the process to circumvent barriers to using raw materials.

SB 1250 attempts to rectify several terms that have been disputed when determining the rules for retaining and using biological materials from newborns. Although Sen. Nichols references the law with regard to NBS, the language broadly refers to “DNA from any newborn child,” which would include NBS as well as other biological samples such as umbilical cord blood that contains DNA. This would mean that if an Oklahoma hospital or a partnering research entity wanted to retain and use other biological samples containing DNA from the newborn, the hospital would need to seek parental consent. Furthermore, this law clarifies that the hospital and state health department are not exempt from compliance with the law under a research exception.

Interestingly, the text refers to the law as necessary to preserve the “public peace, health and safety” in Oklahoma. The law is set to be codified in the Oklahoma statute in the same location as crimes consisting of public disturbances, safety hazards, and physical violations against one’s person- examples of tangible harm to indivduals and society at large. This classification itself nods a recognition to the Beleno case in Texas, where plaintiffs’ emphatically argued unauthorized retention of NBS constituted a serious privacy violation and an unlawful seizure of one’s deeply private medical and genetic information.

Whether other state legislatures and health departments agree with Oklahoma’s requirement for express parental consent or the current state of “emergency,” this law reminds us that each jurisdiction should adopt a prospective law or departmental policy to address these questions in a deliberate manner.

--Katherine Drabiak-Syed

California Department of Public Health Orders Changes to Berkeley's Genetic Test Program

2010-08-19T10:05:00.008-04:00

Last week Berkeley altered its Bring Your Genes to Cal Program to stop the genetic test results from being disseminated back to participating students in response to an order from the California Department of Public Health (CDPH). Berkeley will still hold discussions and lectures based on the aggregate information as previously planned. [See our posting on the Bring Your Genes to Cal Program here.]

On August 11, Berkeley and CDPH met to discuss the program’s compliance with the California Business and Professions Code which requires that a physician order clinical laboratory tests. In a statement to CDPH, Berkeley asserted its program should fall under an exemption for labs performing tests as research where the results are not reported to patients as part of a medical or health assessment. Berkeley maintained that these statutory requirements were not applicable to its program because Bring Your Genes to Cal constituted an “educational experiment,” students are not “patients,” and the three specific gene variants tested are not disease related.

Despite these claims, the program would have returned genetic test results back to each student, which should be defined as part of a health assessment because the program directed students to use these results to inform their dietary and nutritional choices as well as make personal health decisions. According to Dean Schissel’s message to students in the informed consent video, these genetic test results would then allow them to take measures to improve their health such as eating more or less of a particular food, or avoiding alcohol if their test results showed an ethanol “allergy.” Schlissel’s assertion stretched the meaning of California’s exemption in denying that this “experiment” constitutes clinical laboratory tests or that this information is medically significant. Arguments over statuory construction closely parallel the current federal regulatory loopholes relating to DTC genetic tests.

As genomeweb observed, the semantic debate between Berkeley and CDPH is strikingly similar to the volleys between CDPH and DTC genetic test companies that occurred back in 2008. In June of 2008, CDPH had responded to consumer complaints and sent out thirteen cease and desist letters to DTC genetic testing companies, asserting that their policies did not comply with licensure requirements set forth in California law. Two of the targeted companies, 23andMe and Navigenics, asserted they offer an “informational service” providing personal genetic information and not “medical testing services,” so they did not need to obtain a license. CDPH agreed and granted licenses to Navigenics and 23andMe in August 2008.

Now, with Congress and the FDA scrutinizing the federal regulatory requirements, CDPH seems to be responding to the current political shift of opinion and the uncertainties related to providing genetic test results without a physician intermediary and oversight of the test's accuracy and validity. Or perhaps CDPH agreed with concerns in the defeated California Assembly Bill 70. This bill would have urged state schools within the California State University and University of California system from requesting students’ DNA for the purpose of genetic testing.

Defeated AB 70 also raised specific privacy concerns stemming from a university collecting students’ DNA samples for genetic testing and retaining students’ coded genetic information. Although Berkeley's program will incinerate students’ DNA samples following testing, it plans to keep students’ genetic information for further study. Data attack in GWAS studies exemplifies the principle that our understanding of data security relating to genetic information is uncertain, and we have continually underestimated the potential for security breaches. Dean Schlissel’s unwavering promises of absolute privacy seems naively optimistic given what we know in this area.

It seems this “teaching study” has given Berkeley and its freshmen more than they could have anticipated. In addition to the campus lectures about genetics and personalized medicine, students have already learned the ethical and legal complexities associated with emerging technology- the varied parties who have a say, the definition debates, and the unpredictability of the resolution.

--Katherine Drabiak-Syed

DTC Tests Face Scrutiny at FDA, by GAO, and Congress

2010-07-27T14:12:00.007-04:00

Last week produced a flurry of activity at the FDA and before Congress relating to regulation of field of DTC genetic tests. Here is a summary:

At the FDA:

The FDA sent out additional letters to fourteen more DTC companies, stating that the companies’ respective tests constitute in vitro diagnostic devices subject to FDA regulation. These letters mirror the original letters sent out in June to 23andMe, Navigenics, deCODE Genetics, Knome and Illumina, which we discussed here and here.

On July 19-20, the FDA convened its Public Meeting on the Oversight of Laboratory Developed Tests to discuss the history and current regulatory status of LDTs and status of DTC genetic tests. The meeting was divided into four sessions to address:

patient and clinical considerations;
clinical laboratory challenges;
concerns, benefits, and risks of DTC testing; and
education and outreach so laboratories can comply with regulations and physicians are enabled use the genetic information provided in these tests

GAO Report:

On July 22, the Government Accountability Office released its report Direct-To-Consumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices and offered it as testimony during the hearing before the Subcommittee on Oversight and Investigations, Committee on Energy and Commerce in the House of Representatives.

The GAO posed as consumers and sent DNA samples from five people to four selected companies. It also examined a sample if fifteen companies’ advertising and marketing practices.
This report revealed numerous appalling flaws related to selected DTC test’s accuracy, company follow up with consumers, and consumer privacy protections. The report found the following five problems:

(1) each donor’s factual profile received disease risk predictions that varied across all four companies, indicating that identical DNA can yield contradictory results depending solely on the company it was sent to for analysis;

(2) these risk predictions often conflicted with the donors’ factual illnesses and family medical histories;

(3) none of the companies could provide the donors who submitted fictitious African American and Asian profiles with complete test results for their ethnicity but did not explicitly disclose this limitation prior to purchase;

(4) one company provided donors with reports that showed conflicting predictions for the same DNA and profile, but did not explain how to interpret these different results; and

(5) follow-up consultations offered by three of the companies provided only general information and not the expert advice the companies promised to provide.

Varied risk prediction from each company grossly undermines each company’s claim of superiority and accuracy, weakening the reliability of the test results. For example, a male “consumer,” age 48, received three different results about his risk for hypertension. One company claimed he had a below average risk of developing hypertension, a second company stated his risk was average, and a third company noted his risk was above average. Accordingly, if a real consumer would integrate this information to make lifestyles changes as advocate by one of the companies, he may be incentivized toward undesirable health behaviors based on a mistaken belief of lower risk.

A widely circulated YouTube video documented some companies’ dangerous blurring of risk and diagnosis during follow up with company representatives. Here is one example:

Fictitious consumer: “So if I’m high risk, does that mean I’ll definitely get breast cancer?”

Company representative: “You…you’d be in the high risk of, you know, pretty much getting it.”

The GAO classified this exchange as “horrifying” and “disconcerting.” It leads me to wonder how many real consumers received similar devastating and incorrect information when they attempted to follow up their own test results? How many went to their physicians with these results and remained unconvinced when the physicians attempted to reassure them? In the near future, these companies should brace themselves for the legal backlash that is sure to follow from consumers who experienced such troubling exchanges and may vent their anxiety and frustration in the form of legal complaints alleging negligence and emotional damages.

Before Congress

During the hearing on the Hill, Rep. Griffith echoed this cautious sentiment, suggesting when confronted with alarming genetic risk information, consumers are likely to panic first and ask questions later. The Genomics Law Report provides a summary of the hearing here.

Despite GAO’s conclusion that DTC companies provide results that are “ambiguous and misleading,” Rep. Burgess and Rep. Waxman voiced their disfavor of overly intrusive regulation and advocated for a system that would still allow consumers to access their personal genetic information.

However, the GAO report illustrates precisely why the model for these tests will continue to encounter problems without the guidance of a physician as gatekeeper and interpreter. In another exchange recorded on the YouTube video, a company representative tells one “consumer” he can eventually stop taking his prescription medicine for high cholesterol if he purchases and uses the company’s pricey vitamin supplements. Advice connecting risk to behavior and medication changes should require a visit to a healthcare provider, not a phone call to a faceless company representative with uncertain credentials.

Even if a company’s test is accurate and it ceases to disseminate misleading advice about the power of its supplements, consumers still want (and need) additional information and advice from healthcare professionals to interpret and act on the test results they receive.

-Katherine Drabiak-Syed

Berkeley Scheduled to Move Forward with Freshmen DNA Testing

2010-06-29T12:46:00.006-04:00

Yesterday, Berkeley’s student newspaper The Daily Californian published on op-ed questioning Berkeley’s decision to move forward with its experiment designed collect DNA from consenting incoming freshman. The “Bring Your Genes to Cal” experiment originally made headlines over a month ago, when the New York Times and other major newspapers described the program and the corresponding polarized responses. In a few weeks, Berkeley is scheduled to send out information packets, informed consent forms, and buccal swab kits to the incoming freshman class to test for genetic variation related to their ability to process lactose, metabolize alcohol, and examine their levels of folic acid.

Mark Schlissel, MD, PhD, Professor of Immunology and Dean of Biological Sciences at Berkeley views the program as a lesson of how genetics and personalized medicine will impact students’ lives in the future. “We wanted to give students a sense of what’s coming, through genes that can provide them with useful information. I think it’s one of the best things we’ve done in years,” said Schlissel to the New York Times. Schlissel described how the campus will hold seminars and forums in the fall to discuss the significance of personal genetic information.

Despite Schlissel’s enthusiasm, the program is not without criticism. Jesse Reynolds, a policy analyst at the Center for Genetics and Society, acknowledged that educating incoming students on new genetic technologies can indeed constitute an important teachable experience, but raised several cautionary notes. First, Reynolds questioned whether students will freely consent to the test or whether they will feel subtle social pressure to submit a DNA sample. Second, and importantly, Reynolds asserted that by suggesting freshmen’s participation in this experiment, Berkeley is legitimizing or promoting the direct-to-consumer genetic testing industry.

As recent Berkeley alumnae Jillian Theil pointed out in her op-ed on Monday, the scientific validity of these tests when they are offered by direct-to-consumer (DTC) companies is still unknown. Earlier this month, the FDA stepped forward to assert that tests offered by companies such as 23andme and Navigenics are in fact invitro devices and fall under FDA review. But until the FDA and the companies offering DTC genetic tests work through the regulatory process, the current DTC genetic tests’ analytical and clinical validity remains uncertain.

Problematically, students will not fully learn about the complexities of federal regulation, genetic information, and how to contextually interpret it until after they receive their results during the fall discussion sessions on campus. Contrary to Schlissel’s categorization of these variants as innocuous information, bioethicist George Annas argued that a college student’s genetic variant relating to alcohol metabolism is far from harmless. “What if someone tests negative, and they don’t have the marker, so they think that means they can drink more? Like all genetic information, it’s potentially harmful,” asserted Annas in the New York Times.

Theil’s title hit the mark: proceed with caution, indeed. Students should know that similar tests offered in the marketplace are in the middle of potentially sweeping regulatory changes. Even if Berkeley’s tests are accurate, as Annas noted, students should interpret their genetic information carefully (should they choose to participate) and forgo basing any lifestyle decisions on their results.

--Katherine Drabiak-Syed

Newborn Blood Spot Banking in Canada

2010-05-14T17:11:00.004-04:00

A controversy that began in Minnesota and Texas has spread north of the Canadian border to British Columbia. The BC Civil Liberties Association (BCCLA) is opposing the potential research use, without parental consent, of 800,000 newborn blood spots stored in a facility operated by Iron Mountain of Burnaby, B.C. The BCCLA published a press release on May 12 explaining its opposition and its concerns regarding B.C. Legislative Assembly 2010, Bill 11. The BCCLA describes Bill 11 as: "a grab bag of miscellaneous legislative provisions, including sections 165-167 that give the Minister of Health power to collect, gather, use and share personal information without any notice to or consent from affected individuals."

In addition to opposing Bill 11, the BCCLA's David Eby and an unnamed parent are challenging the privacy practices of the B.C. Newborn Screening Program operated by the B.C. Women's Hospital. The hospital's president, Dr. Jan Christilaw, insists (in The Province), “No researcher is actually going to walk out of there with someone else’s blood.” However, at CBC News, the Screening Program's director confirms "some of the samples have ... been used by medical researchers to establish 'normal values and ranges'" to improve testing methods. Nonetheless, privacy advocates are not satisfied. The Globe and Mail (and others) quoted one worried parent, Rhian Walker:

“This was never, ever explained anywhere to me .... I think this would change a lot of parents’ perception of that test. You’re trying to do what’s best for your baby, so I’m a bit taken aback to learn that now that information is being stored and utilized in a way that I haven’t given consent for.”

Although, Eby wants samples stored without consent to be destroyed, Christilaw confirmed in The Vancouver Sun that "staff are finalizing an opt-out part of the program, so parents will be able to decide up front if they wish to participate in the screening."

While BCCLA's advocacy may or may not slow the progress of Bill 11, will it discourage the uptake of a valuable public health service?

Related:

Katherine Drabiak-Syed. Newborn blood spot banking: approaches to consent. PredictER Law and Policy Update. Indiana University Center for Bioethics. March 12, 2010.
Jere Odell. Newborn Blood Spots, Biobanks, and the Law: Research Ethics in the News. Indiana Bioethics. February 2010.
Link: National Newborn Screening and Genetics Resource Center

Other Predictive Health Ethics News

Dan Vorhaus. DNA Spit Kits Off Walgreens’ Shelves? Try Amazon.com. Genomics Law Report. May 13, 2010.
Michael Rugnetta. FDA Intervention Shelves Plan for Drugstore Genome Tests. Science Progress. May 13, 2010.
Andrew Pollack. Walgreens Delays Selling Personal Genetic Test Kit. The New York Times. May 12, 2010.
Courtney Hutchison. Over-the-Counter DNA Testing: Wave of the Future or Waste of Money? ABC News. May 11, 2010.
Philippa Brice. US genetic discrimination complaint. PHG Foundation News. May 7, 2010.
Sound Ethics. The Immortal Life of Henrietta Lacks. Sound Medicine. May 2, 2010.
Bridget M. Kuehn. NIH Launching Genetic Test Registry. JAMA. 2010;303(17):1685.
Keith Doyle. UK Biobank 'close to signing up 500,000 participants'. BBC News. April 24, 2010.
Nuffield Council on Bioethics. Human bodies in medicine and research: consultation. Nuffield Council on Bioethics. April 19, 2010.
Larry Greenemeier. Case Studies Reveal that Patents Can Hinder Genetic Research and Patient Care. Scientific American. April 16, 2010.

- J.O.

Pathway Genomics: the Final Tipping Point for FDA Regulation of DTC Genetic Tests?

2010-05-13T13:26:00.005-04:00

On Monday, the New York Times reported that Pathway Genomics, a company selling direct-to-consumer (DTC) genetic and ancestry tests partnered with Walgreens, who was poised to begin stocking its shelves across the nation with kits. Two days later, the FDA sent a letter to Pathway Genomics asking the company to either show it has regulatory approval or explain why the test does not fall under the purview of FDA’s regulations. As a result of this controversy, Walgreens announced it will postpone selling the kit until the company resolves the issue with the FDA.

Pathway Genomics, like other DTC genetic tests, offers DNA testing to provide consumers information relating to genetic markers for risk of developing health conditions, carrier status, drug responses, and adverse medication reactions. Its website promises “with Personal DNA Testing, you can take preventative steps to improve your future, and even extend your life.” Despite these assertions, Pathway Genomics maintains its test should not fall under FDA regulation because it is “not intended for use in diagnosis, treatment or for the mitigation or cure of a disease.” This fine (or nonexistent) line of what constitutes a medical test rather than an informational service was the same argument used by Navigenics and 23andme back in 2008 when they responded to cease and desist letters sent by the California Department of Public Health.

Up until this point, the FDA has declined to regulate tests and active ingredients that a company creates itself in its own laboratory (home brew tests.) [See our previous posting on the topic here and our Direct-to-Consumer Law & Policy Update here.] Accordingly, the FDA has not regulated home brews’ claims of clinical validity, analytic validity, or clinical utility. That is, consumers had no assurance whether the test correctly correlated with the presence, absence, or increased risk of a certain disease; whether the test’s positive or negative test result correlated with the gene sequence; or whether the company provided useful information to translate these results to the consumer.

The Genomics Law Report posits that the sudden change in FDA’s response reflects the fact that Pathway Genomics will be the first company to sell its kit in a store location rather than through the internet, which increases its visibility and availability to consumers.

It also magnifies the potential that consumers may misunderstand or be misled by test results. Even if the test itself provides accurate information, the nature of DTC genetic tests presents inherent shortcomings. First, there is no requirement for a physician to determine whether the test is medically indicated prior to ordering. Second, there is no mandatory genetic counseling to explain the significance and limitations of the results.

Like several other companies, Pathway Genomics charges additional fees for a consumer to purchase telephone sessions with a genetic counselor. Unlike other companies, Pathway Genomics states it will provide a free genetic counseling session if the company deems it “medically necessary.” This gracious offer misses the point that genetic counselors should always be part of the genetic testing equation. It also leaves us to wonder, how does Pathway Genomics decide what constitutes a medically necessary reason?

It seems Pathway Genomics’ business decision to partner with the drugstore giant may have finally caught the FDA’s attention. FDA’s investigation into Pathway Genomics’ test into may turn out to be the long awaited tipping point for FDA to revise its stance and begin to regulate DTC genetic tests.

-Katherine Drabiak-Syed

Havasupai Tribe and Arizona State University Settlement Agreement: ASU to Return the Blood Samples

2010-04-29T15:23:00.004-04:00

On April 21, 2010 the New York Times reported that the Havasupai tribe and Arizona State University (ASU) arrived at a settlement agreement relating to litigation over ASU’s alleged misuse of the Havasupai tribe’s blood samples originally collected for diabetes research. (Visit our forthcoming Human Specimen Collection, Biobanking, and Genetic Research Law and Policy Update for more information on the case.)

After millions of dollars spent on litigation in various suits, the tribe and ASU entered into the settlement agreement in March of this year. The settlement contains several provisions including details for ASU’s performance obligations such as:

(1) ASU will pay the plaintiffs a sum of $700,000;

(2) ASU will return all blood samples in its possession; and

(3) ASU will return documents such as lab books and genealogy materials containing research derived from the blood samples, it will direct IRBs at the universities involved in the suit not to approve ongoing or new research using the samples, and it will provide the tribe a list of entities to which it previously transferred the samples.

The settlement agreement also set forth a creative five year collaborative between ASU and the tribe designed to address the tribe’s needs in the areas of education, health and nutrition, economic development, architecture, engineering, and legal governance. Several of these provisions include pursuing funding opportunities to build a high school near the reservation, partnering ASU nursing students to provide clinical care in Supai village, and working with the tribe to develop business plans related to its tourism programs.

Like many other settlements, this agreement specified a monetary exchange. ASU's transfer of $700,000 (split among the forty-one plaintiffs) seems nominal compared to plaintiffs’ request for $25 million in compensatory damages and $25 million in punitive damages. However, unlike other agreements, the money was arguably not the central concern here and would never alone be sufficient to remedy plaintiffs’ alleged damages without addressing the use and possession of the blood samples.

The return of the samples and research materials highlights several important issues that suggest our current standards and assumptions governing biobanking research are inadequate to address the needs of all research subjects, especially if blood and DNA is particularly significant to a group's cultural values and sense of identity.

First, subjects must be fully informed when they provide consent to use their blood for genetic research and the scope of the research should not exceed the original consent. Second, using the blood for purposes beyond the scope of the original consent may present serious dignitary concerns that researchers may overlook because the substance of these concerns may not even register as a possible harm or risk. Indeed, one of the ASU researchers maintained she was advancing important research and refered to the tribe's claims as "hysterical." Lastly, the importance of how the samples are (mis)used can be so vital to a particular group that return of the samples may be the only mechanism to fully remedy the group’s alleged dignitary harms.

-Katherine Drabiak-Syed

Judge Grants Partial Summary Judgment to Plaintiffs: Myriad's Gene Patents Are Invalid

2010-04-05T11:03:00.004-04:00

On March 29, Judge Sweet issued a ruling in Association for Molecular Pathology v. United States Patent and Trademark Office. Known as the lawsuit against Myriad Genetics, this case was posed to answer the widely debated question of whether human genes are patentable. In a 152 page opinion, the Court comprehensively addressed whether the defendants’ patents were valid under the standards set forth in 35 USC § 101 and patent law’s subsequent precedent.

For more information on the case, see our previous posting and our Law & Policy Update.

Judge Sweet granted partial summary judgment in favor of the plaintiffs related to both the composition and the method claims, finding as a matter of law defendants’ patents were invalid under 35 USC § 101. (For more on the significance of summary judgment, see Genomic Law Report’s posting.) The Court dismissed the Constitutional claims against the USPTO based on the doctrine of Constitutional Avoidance. This means where it is possible to resolve plaintiffs claims without addressing the Constitutional questions, the Court is precluded from addressing these issues.

Defendants argued that by isolating and purifying DNA, they had sufficiently changed a product of nature into a fundamentally new product that satisfied subject matter patentability requirements. Judge Sweet responded to defendants’ arguments by systematically refuting each point. The Court thoroughly dismantled defendants’ reliance on precedent relating to products of nature in Parke-Davis, explaining that this case’s analysis only related to outdated dicta. Purification of a product of nature without additional handiwork or change to the substance is insufficient to meet the requirements for patentability because isolated DNA is not markedly different from native DNA, according to the Court. By definition, isolated DNA can be used for research tool applications where native DNA is unsuitable because it has an identical sequence.

Notably, Judge Sweet also took issue with defendants’ arguments that USPTO and the Court should treat patents for DNA identically to every other chemical. Unlike other chemicals, genes have a double nature because they are both chemical molecules and physical carriers of information. “DNA, and in particular, the ordering of the nucleotides, therefore serves as the physical embodiment of the laws of nature- those that define the construction of the human body,” wrote Judge Sweet. (124) These distinctions suggest that the Court recognizes the problematic implications of continuing to treat DNA as any other chemical- a frenetic race to patent the rest of the human genome without consideration of research or clinical care consequences.

The Court also invalidated defendants’ claims for analyzing and comparing sequences of the BRCA genes, finding that the claims did not meet the required physically transformative step. Preparatory processes such as isolating and sequencing the DNA only constitutes data gathering and are insufficient to transform an abstract mental process of comparing gene sequences into a transformative process. In addition, the Court invalidated defendants’ claim for comparing the growth rate of cells. In that patent, defendants claim stated that a slower growth of cells indicated a cancer therapeutic. Judge Sweet clarified that the essence of this claim merely recited the scientific method and constituted a patent on a basic scientific principle.

This opinion signals an important pause in frantic pursuit of more and more gene patents. Judge Sweet’s analysis commands us to rethink whether precedent ever actually supported patent eligibility for isolated DNA sequences or sequence comparison claims like Myriad’s.

The impact of this decision alone means that some of Myriad’s patents are invalid and it cannot enforce them in the future. However, defendants will likely appeal this decision to the Federal Circuit, which may choose to stay Judge Sweet’s ruling until it renders a final decision. If the final ruling happens to affirm this Court’s findings, then the USPTO would conform its examination policies to avoid issuing patents on isolated DNA or the comparison or analysis of DNA sequences.

-Katherine Drabiak-Syed

Transparency of Texas’ NBS Transfer and Reassessing Evasive Statutory Interpretation

2010-03-09T10:29:00.003-05:00

A recent investigative report from the Texas Tribune revealed new information relating to the sharing of newborn blood spots (NBS) in Texas.

In November 2009, Texas Tribune reporters contacted the Texas Department of State Health Services (TDSHS) with a record request to review agency information and activities related to the NBS as permitted under the state’s Sunshine laws. TDSHS refused, maintaining that the NBS records were confidential. After parties filed the settlement with the court, Texas Tribune inquired again to obtain the records and found that TDSHS transferred hundreds of de-identified NBS to the Armed Forces Institute of Pathology to build a mitochondrial DNA (mtDNA) registry.

The Armed Forces Institute of Pathology designed the mtDNA registry as a forensics tool to identify missing persons, solve old crimes, and eventually, share the samples internationally for law enforcement and anti-terrorism efforts. Throughout the plaintiffs’ allegations and questions, TDSHS asserted it was storing and using the NBS for medical research, never mentioning any forensic use even through plaintiffs’ attorney James Harrington specifically inquired how TDSHS used the samples. TDSHS’ provision of information relating to the mtDNA registry would have been both directly pertinent and material to answering plaintiffs’ questions about the NBS disposition and how plaintiffs chose to proceed with the lawsuit.

In addition to the information on the mtDNA registry, the records request also uncovered email communications from the time when TDSHS began storing NBS at Texas A & M University. When the storage began, Texas A & M asked to issue a press release, but a TDSHS official stated that releasing this information made him “nervous” and would “only generate negative publicity.”

Although the decision revealed in the emails prevented public knowledge of storage for research use, it demonstrates a problematic mentality that transparency poses an unnecessary burden. Remaining in the dark about research using NBS is one issue, but failing to disclose (even when asked on several occasions) that the NBS are included in a registry for forensic and future law enforcement purposes creates a multitude of distinct issues. Both explicit knowledge and consent should be required to include one’s DNA in such a database.

Following terms of the settlement agreement, TDSHS’s website lists projects for which TDSHS uses the NBS. The mtDNA registry is now included on this list of projects, and TDSHS spokesperson Carrie Williams maintains that it falls within the category of “public health research.”

Sweeping forensic and law enforcement uses into the definition of public health research warrants close analysis. First, a plain reading of each definition would clearly show that the purpose of research into the causes of autism is not remotely connected to using DNA to identity a suspected criminal. Applying such a definition extends the limits of creative statutory interpretation too far. Second, states’ legislatures have attempted to impose limits on the use of NBS and other biological samples by creating exemptions or abbreviated pathways when the samples are used for public health research. Including forensic and law enforcement purposes ignores this precision and opens the possibility that samples would be shared for even more uses that would not disclosed to the public because the state health department could use this precedent to assume this use also would constitute “public health research.”

The potential for negative publicity alone should not serve as a barrier to transparency, but rather encourage public education for why TDSHS thought giving NBS to the mtDNA registry (with proper consent) would be beneficial. Dodging specific inquiries related to the uses of NBS, failing to disclose that they were given to this registry, and subsequently classifying the registry as a public health project have created even more of a publicity nightmare than TDSHS could have imagined. Other state health departments may be wise to assess whether their own policies encourage transparency, public engagement, and a sincere interpretation of what projects constitute public health research.

--Katherine Drabiak-Syed

Direct-to-Consumer Fetal Sex Prediction Tests: the US is Not Immune to Sex Selection

2010-02-02T16:15:00.010-05:00

In January, Dutch researchers published a study relating to a new method for screening maternal blood to determine fetal sex as early as seven weeks after conception. Although this test reports 100% accuracy, other direct-to-consumer (DTC) fetal sex prediction tests that advertise online offer similar tests with unregulated accuracy.

Recently, these tests have come under increased scrutiny based on the possibility that consumers both in the US and abroad may purchase the tests as a means obtaining information about fetal sex as the first step in seeking a sex selection abortion. Unlike an ultrasound (performed at 18-20 weeks in the second trimester), these DTC tests advertise the ability to predict fetal sex between 5-10 weeks in the first trimester. This offers parents an opportunity to determine fetal sex and make corresponding planning decisions to produce a child of a specific sex that may have been previously unaffordable (through means such as preimplantation genetic diagnosis or sperm selection) or inaccessible (second trimester sex selection abortions).

Three main countries- China, India, and Korea- are often used as examples of countries with socio-cultural environments that contribute to male child bias in attitude and action. Literature contains extensive discussion on how and why socio-cultural attitudes have traditionally, and still to a large extent, continue to favor male children and perpetuate extensive gender discrimination within the respective countries. The magnitude of bias is reflected in the skewed population ratios such as the 50 million “missing” females that should otherwise exist in the Chinese population. These deeply entrenched reasons for male bias and the pervasiveness of these attitudes means that even despite legal steps to explicitly limit or prohibit sex selection abortions, for decades both parents and practitioners have ignored laws designed to prevent this practice in each respective country.

In recognition of this issue, some DTC fetal sex prediction companies specify that they do not sell the product to consumers in China and or India. However, some companies have not issued such restrictions, and consumers in India or China can locate these products by a simple internet search. In India, scholar and activist Dr. Sabu George filed a lawsuit against Google and Yahoo seeking to enforce an Indian law against advertising products that reveal fetal sex. While the search engines have pulled some advertisements, internet searches still provide links to the DTC fetal sex prediction company websites.

The potential of using fetal sex prediction tests as a means of sex selection is not only a problematic issue limited to other countries. Both attitudinal research and recent litigation suggests that some parents in the US may use these tests for sex selection purposes.

Despite a notion that the general US population does not possess a preference for a child of a specific sex, statistics suggest this assumption may not be correct. Numerous studies demonstrate that members of the US population do possess attitudinal bias favoring male children, either as only children or first born. Some parents not only hold this male child bias, but are also willing to translate these attitudes into practice to achieve the desired outcome.

Another lawsuit against the Baby Gender Mentor product, Duffy et al. v. Acu-Gen Biolabs et al., also confirms these attitudes exist within the US population. Plaintiffs allege the tests were inaccurate and falsely predicted their baby’s sex, which caused them emotional distress and had a “devastating effect.” One plaintiff asserts that the incorrect test results contributed to the demise of her marriage because her husband wanted a boy, while another plaintiff upon learning the results “struggled, needlessly, with whether to keep [the pregnancy.]”

Granted, vast socio-cultural differences exist between counties such as India, China, and the US that could lead to less devastating population wide outcomes. However, does this mean we should be less concerned that only a small percentage of the population may use these tests for sex selection purposes? What can we learn from these countries when formulating our policy relating to how these tests can or cannot be used?

--Katherine Drabiak-Syed

In the Literature: Altruism, the Self and Genetic Research

2010-01-13T11:43:00.005-05:00

Ethicists and medical researchers often think about the barriers to participation in research. People want to know exactly what keeps potential participants away from a valuable research project? Likewise, many want to know what could be done to (safely and fairly) lower the barriers to participation in research. The opposite question, however, is equally interesting: Why do people do it? What motivates patients and others to consent to medical research?

Nina Hallowell, et al. examine these questions in the context of cancer research and biobanks in their recent paper “An investigation of patients’ motivations for their participation in genetics-related research” (J Med Ethics. 2010 Jan;36(1):37-45). The authors conducted interviews with 59 patients formerly enrolled in research studies at a regional genetics service (Wessex Clinical Genetics Service, Southampton, UK). After pouring through what must have been a large stack of transcripts, the authors identified three frequently expressed motivations: 1) “Selfish” – subjects expected to benefit from the research by receiving better care or other rewards; 2) Familial altruism – subjects wanted to contribute to efforts that might help future cancer patients (including grandchildren) in their families; and 3) Social altruism – subjects expressed a desire to do something that would benefit society and improve the health of all. After using these categories to evaluate the motivational statements, the authors declined to assert that any single type was a sufficient description of why patients consent to genetic research studies. They write: "these framings were frequently juxtaposed within the interviews, so that, in practice, it was difficult to characterise interviewees’ accounts as either self- or other-oriented". And again: "drawing upon any one motive to account for one’s behaviour in this context is not sufficient, for each motive would appear to impact upon, alter and modify others in a recursive or dynamic fashion".

They also provide a graphic to help us visualize the inter-related motivators in the genetic research participation engine:

My thoughts:

While I do not doubt that motivations are multi-layered and that a single individual may be motivated simultaneously by personal need and social altruism, I think the authors decided to down play the importance of the "personal framing" (or “selfish reasons”) in subjects’ decisions to consent to genetic research. In fact, the paper reports: "The majority of interviewees, like P124, offered personally motivated reasons for their research participation at some point in their interview". The importance of self-centered motivations is also clear in the graphic above. In other words, while it may be difficult to untangle these motivations, the gears might stop turning altogether if one were to remove "personal framing". I do not think the authors would disagree with me (and if they read this post, they are more than welcome to comment); perhaps the authors do not want to lose the point that altruism cannot be a stand-alone motivator. In fact, the discussion ends with a compelling statement:

Such observations suggest that we may need to rethink the concept of altruism … the “moral character of research participation”. Also, as we noted earlier, we need to recognise that when it comes to accounting for research participation we can no longer regard altruism and selfishness as incompatible or oppositional concepts. Indeed, it would appear that research participation is experienced as a more ethically contentious activity than has heretofore been assumed.

Reference:

Hallowell N, Cooke S, Crawford G, Lucassen A, Parker M, Snowdon C. An investigation of patients' motivations for their participation in genetics-related research. J Med Ethics. 2010 Jan;36(1):37-45. PubMed PMID: 20026692.

Related:

Dixon-Woods M, Tarrant C. Why do people cooperate with medical research? Findings from three studies. Soc Sci Med. 2009 Jun;68(12):2215-22. Epub 2009 Apr 24. PubMed PMID: 19394741.

Geller G, Doksum T, Bernhardt BA, Metz SA. Participation in breast cancer susceptibility testing protocols: influence of recruitment source, altruism, and family involvement on women's decisions. Cancer Epidemiol Biomarkers Prev. 1999 Apr;8(4 Pt 2):377-83. PubMed PMID: 10207643.

Treloar SA, Morley KI, Taylor SD, Hall WD. Why do they do it? A pilot study towards understanding participant motivation and experience in a large genetic epidemiological study of endometriosis. Community Genet. 2007;10(2):61-71. PubMed PMID: 17380055.

Other Recent Predictive Health Ethics Articles – PubMed, Nov 2009 -Jan 2010

-- J.O.

Minnesota Judge’s Dismissal of Newborn Blood Spot Case Misses the Mark

2009-12-14T08:27:00.006-05:00

On November 24, 2009, Judge Marilyn Rosenbaum signed an order dismissing plaintiffs’ complaint with prejudice in the Bearder et al. v. Minnesota et al. (MDH) lawsuit. This dismissal quickly disposed of plaintiffs’ claims that MDH’s practices of retention and research use of newborn blood spots (NBS) conflicted with specific protections outlined in the Minnesota Genetic Privacy Act (GPA) and constituted violations of their childrens’ property and privacy interests.

Judge Rosenbaum responded to plaintiffs’ claim that MDH failed to comply with the GPA by ruling that the GPA does not even apply to MDH’s actions because:

NBS samples do not constitute genetic information; and
The statute contains reference that it will not apply if an express provision in the law exists.

The GPA clearly defines genetic information as:

“Information about an identifiable individual derived from the presence, absence, alternation, or mutation of a gene… which has been obtained from an analysis of the individual’s biological information or specimen” and
“Medical and biological information about a particular genetic condition that is or might be used to provide medical care to that individual.”

Judge Rosenbaum’s finding that NBS are not classified as genetic information ignores the plain language of the statute. NBS are collected to analyze the presence, absence, or mutation of a disease during the newborn screening process and used to obtain medical and biological information about a particular genetic condition so parents of newborns can make medical decisions accordingly. Thus, logic compels classifying NBS as genetic information.

Defendants argued that the newborn screening statute which states that the NBS and results of the screening tests “may be retained by the [MDH]” amounts to an express provision authorizing exemption from the GPA. Judge Rosenbaum’s agreement disregards the meaning of “express provision” and the substantive fact that the collection and temporary retention for screening purposes is distinct from the collection, retention, and use for additional research reasons. Accounting for this important division, the statute would have explicitly and distinctly contained a section authorizing additional retention and research use beyond the collection and retention for detection, treatment, and follow up of heritable and congenital disorders if the legislature intended.

Additionally, this interpretation ignores the purpose of the GPA as a means to limit collection of genetic information by a government entity.

The finding that this section of the newborn screening statute (“may be retained by the [MDH]”) constitutes an express provision allowing retention and research beyond the initial screening poses two additional dilemmas. First, it problematically ratifies blurring screening with additional retention and research. Second, Judge Rosenbaum’s finding ignores that the retention and research is not limited to the MDH but extends to its research partners such as the University of Minnesota, the Mayo Clinic, and the CDC.

Randall Knutson, attorney for the plaintiffs, responded:

“It is our hope to bring some legal guidance and common sense to DNA issues, including the storage and dissemination of genetic information by our government agencies. As it now stands, the State of Minnesota appears free to use and sell our genetic information, without us having any say in the matter. That is simply unacceptable, and we intend to continue to fight on to change this situation.”

Knutson plans to appeal Judge Rosenbaum’s decision.

--Katherine Drabiak-Syed

Lawsuit Challenging Myriad’s BRCA1 and BRCA2 Patents Will Go Forward: Judge Rejects Defendants’ Attempts to Preclude Plaintiffs’ Day in Court

2009-11-25T11:29:00.003-05:00

Association for Molecular Pathology v. United States Patent and Trademark Office, Civil Action No. 09-4515 RWS ((S.D.N.Y. 2009) known as the lawsuit against Myriad Genetics challenging its gene patents related to BRCA1 and BRCA2 will go forward.

On November 1, 2009 Judge Robert Sweet handed down an order denying the defendants’ motion to dismiss. In the 85 page order, Judge Sweet accepted many of plaintiffs’ arguments set forth in the complaint and accompanying affidavits, finding that the court may properly hear the case and plaintiffs may properly sue each defendant.

The court flatly rejected defendants’ assertion that plaintiffs could not use the court as an arena to challenge questions of patentability.

Judge Sweet declined to adopt defendants’ arguments that the existence of the Patent Act as a comprehensive statutory scheme demonstrates Congressional intent to provide an internal remedy and preclude judicial challenges of the nature in this suit. The court noted that despite the USPTO’s statutory scheme to address patent questions, it does not provide a comparable statutory framework to raise Constitutional concerns and provide remedy accordingly; thus, plaintiffs may still bring an action to enforce the asserted Constitutional rights.

The court’s arrival at this reasoning is closely connected to Judge Sweet’s lengthy description of why the plaintiffs’ allegations of Constitutional violations are adequate and why the Court will not grant defendants’ motions to dismiss. The order described plaintiffs’ assertions that Myriad’s patents in question grant Myriad ownership rights over products of nature, laws of nature, natural phenomena, abstract ideas, basic human knowledge, and thought, which would violate the First Amendment. Additionally, plaintiffs pled that Myriad’s ownership of the patents in question inhibited further research, which would violate of Article I, section 8, clause 8 of the Constitution that directs Congress (and by delegation, the USPTO) to promote the progress of science.

The court also rejected Myriad’s arguments that plaintiffs could not show Myriad acted affirmatively to enforce the patents or that plaintiffs undertook meaningful preparation to potentially infringe the patents.

Judge Sweet adopted facts set forth in plaintiffs’ complaint and affidavits describing how Myriad sent out cease and desist letters to researcher plaintiffs and initiated two actions against infringers, demonstrating Myriad’s affirmative actions and willingness to enforce the patents. Importantly, the court further noted that given the widespread knowledge of the breadth of Myriad’s claims and its willingness to enforce its patents, a court would likely find that infringement of the patents would be considered willful and result in treble damages- meaning a scientist attempting BRCA research could be subject to extraordinary damages above merely compensating Myriad for any monetary losses.

Additionally, Judge Sweet accepted the researcher plaintiffs’ assertions that they are ready, willing, and able to infringe the patent because they are prepared to advance BRCA research, and or offer testing, and could do so within a matter of weeks. The court also noted that the plaintiff women affected by breast or ovarian cancer could take advantage of testing alternatives to find another test covered by their insurance or obtain a second opinion (options currently denied to them because of Myriad’s patents) that would potentially classify them as contributory infringers, meaning they could also properly sue the defendants.

The case moves forward and the court will hear parties’ oral arguments on motions for summary judgment on January 21, 2010. At this hearing, the court will decide whether there are genuine issues of material fact in dispute that would preclude the court from ruling as a matter of law for one party. If Judge Sweet’s order is any indication, a multitude of problems exist that are ripe for a hearing, and in the near future this court could squarely address these contentious issues arising from gene sequence patents. Perhaps finally the judicial system could address both the USPTO's and Congress' failure to re-examine patentability standards for gene sequences and decide whether issuing gene patents run contrary to Constitutional and statutory requirements.

-Katherine Drabiak-Syed

Newborn Blood Spot Litigation Continues in Minnesota and Texas

2009-11-20T10:09:00.008-05:00

The litigation occurring in Minnesota and Texas regarding the unauthorized retention and research use of newborn blood spots (NBS) continues, and has developed into respective battles seeking judicial recognition for a property and privacy interest in one’s genetic material from which governmental entities such as state health departments are not exempt.

In September 2009, the Minnesota district court heard the defendants’ motion to dismiss and motion for summary judgment in Bearder et al. v. Minnesota et al. (MDH). MDH argued that there are no genuine issues of material fact so the court could simply rule as a matter of law in its favor to exempt the application of the Minnesota Genetic Privacy statute to the state health department's activities as well as preclude any of the plaintiffs’ privacy claims. Following this interpretation, two active bills in the Minnesota House (HF 1341) and Senate (SF 1478) seek to alter Minnesota state law by creating a compliance exemption for the state health department.

According to Bearder et al.'s attorney Randall Knutson, the parties are waiting for the court’s ruling, which is scheduled for return before December 18, 2009. Plaintiffs contend that NBS are genetic information, individuals have a property and privacy interest in their DNA, both tort and Constitutional law protect these interests, and they seek to compel MDH’s compliance with the Minnesota Genetic Privacy Act.

Bearder et al.’s memorandum of law submitted to the court prior to the hearing developed concerns related to MDH’s continued noncompliance with the Minnesota Genetic Privacy Act. Mark McCann, Manager of Public Health Laboratory in the Newborn Screening Program testified before the Minnesota Senate that “the number of parents who have given consent to store…the residual dried blood spots with the Minnesota Department of Health is zero” and despite the Minnesota Genetic Privacy Law requiring that the MDH obtain parental consent for retention and research use, according to McCann, actually obtaining consent is not a current practice.

The memorandum also describes the intersection of problematic shortcomings related to parental requests for destruction, “de-identification,” and research sharing with outside entities such as MDH’s $6 million contract with the Mayo Clinic. According to plaintiffs’ affidavits, some parents were not even told that the specimens would be retained and used for genetic research purposes (undermining the ability to request their destruction) or their requests for destruction were not honored. MDH refers to its system of storing and sharing the NBS as “de-identified” but it provides linked and coded NBS to the Mayo Clinic, retains the key to re-link the specimens (meaning they are not in fact “de-identified,”) and admits there is no standardized procedure for this process.

In Texas, the companion case Beleno et al. v. Texas Department of State Health Services et al. (TDSHS) asserts that individuals have a fundamental privacy interest in their DNA, which exists even absent any statutory provision specifically recognizing genetic privacy. On September 22, 2009, the Texas district court judge denied TDSHS’s motion to dismiss, meaning the court would schedule a hearing for the merits of the case unless the parties arrived at an alternate settlement. The Texas Civil Rights Project which represents plaintiffs indicated that the parties are in settlement negotiations, but as of November 20, 2009, parties have yet to sign an agreement.

Even if parties reach a settlement, Beleno et al.’s arguments used in this case merit pause and further examination. In plaintiffs’ response to defendants’ motion to dismiss, Beleno et al. argue that the defendants committed unlawful and unreasonable seizure, because although parents may have consented to providing the NBS for screening tests, they did not consent to the retention and research use of NBS. Even if the NBS were de-identified, plaintiffs argue that TDSHS unlawfully seized the specimens if they did not obtain actual parental consent, highlighting that issues of consent and privacy are both distinct yet inextricably linked both in practice and legal analysis. Importantly, Beleno et al. also argue that passive storage even absent any additional research or sharing of NBS constitutes a per se violation of Constitutional and tort privacy principles given the fact that they contain deeply private medical and genetic information.

Independent of how these courts proceed, these two cases continue to ask:

Do, or should, we have a property or privacy interest arising from tort or Constitutional principles in our genetic material (here, in the form of NBS) that requires consent to transfer this interest?
Can we minimize the potential for future litigation simply by obtaining parental consent for retention and research use?
Would creating codified exemptions for state health departments deter or encourage privacy advocates from litigation?

-Katherine Drabiak-Syed

Data Sharing and Privacy: In the News

2009-09-22T19:50:00.013-04:00

Roughly one year after the NIH and The Wellcome Trust restricted access to genome-wide association studies [see: Modifications to Genome-Wide Association Studies (GWAS) Data Access (NIH, August 28, 2008 - PDF)], data sharing is back in the news. In August, researchers in Tel Aviv and Berkeley announced a new method of protecting the privacy of individuals in genetic research studies. In the press release, one of the authors, Eran Halperin, alludes to the PLoS Genetics paper that led to the NIH's data access modifications (Homer N, et al.). As Halperin sees it, the "knee-jerk response stymied potential breakthrough genetic research." Perhaps he hopes that the new privacy approach will re-open the doors of safe data sharing. Halperin's method (published in Nature Genetics) uses a likelihood ratio (LR) test to measure the risk of exposing a single individual within a data set. Ultimately, the LR test limits the number of SNPs shared and thereby decreases the chances of privacy losses. If you would like to give this method a try, the software is available online (with registration) at SECUREGENOME.

In related news, The Toronto International Data Release Workshop (Genome Canada, May 2009) recently recommended the "rapid release of prepublication data" to speed the pace of scientific discover. The recommendation was published in a special, data sharing edition of Nature. The Workshop cites the Human Genome Project as an example of how sharing data leads to public benefits: "This experience ultimately demonstrated that the broad and early availability of sequence data greatly benefited life sciences research by leading to many new insights and discoveries, including new information on 30 disease genes published prior to the draft sequence." In a note addressing the human subjects concerns, the Workshop acknowledges the privacy risks: "Data about human subjects participating in genetic and epidemiological research require particularly careful consideration owing to privacy-protection issues and the potential harms that could arise from misuse. ... [F]or clinical and genomic data that are associated with a unique, but not directly identifiable individual, access may be restricted."

Will these developments (a proposed technical solution to the privacy barrier and a reaffirmation of the social benefits of data sharing) encourage the NIH and The Wellcome Trust to reduce some of the restrictions on data sharing? (I’d say: not yet.) While the safety of data sharing may be increased with technical solutions, it seems unlikely that all privacy risks will be eliminated. After all, if I share something "private" with you (or with anyone else), it's not so "private" any more. At the same time, if data access is restricted (for example, by using smaller, "safer" data sets), the public benefit of sharing resources declines. Clearly, we are looking for a way to eat our cake and have it too; protecting the individual's privacy while sharing for common benefits. Perhaps we should ask ourselves, what are the risks that we are willing to impose on individuals for the benefit of the common good? As an individual, exactly how private is your privacy? And at what cost?

References:

Homer N, et al. Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet. 2008 Aug 29;4(8):e1000167. PMID: 18769715

Sankararaman S, Obozinski G, Jordan MI, Halperin E. Genomic privacy and limits of individual detection in a pool. Nat Genet. 2009 Sep;41(9):965-7. Epub 2009 Aug 23. PMID: 19701190.

Toronto International Data Release Workshop Authors, et al. Prepublication data sharing. Nature. 2009 Sep 10;461(7261):168-70. PMID: 19741685.

Other Predictive Health Ethics News

Nikki Tait. Pan-European biobanking moves closer. Financial Times. September 16, 2009.

Michael Rugnetta and Whitney Kramer. Paving the Way for Personalized Medicine. Science Progress. September 14, 2009.

Daniel Vorhaus and Lawrence Moore. What happens when a personal genomics company goes bankrupt? Genetic Future. September 14, 2009.

Caroline Wright. HGC public consultation on DTC genetic testing services. PHG Foundation News. September 8, 2009.

Over Ninety Per Cent Of Pathologists Find Research Rules Too Complex. Medical News Today, September 8, 2009.

Jane E. Brody. Buyer beware of home DNA tests. The New York Times. August 31, 2009.

Brad Therrell, Harry Hannon, Don Bailey, et al. Considerations and Recommendations for a National Policy Regarding the Retention and Use of Dried Blood Spot Specimens after Newborn Screening. Genetic Alliance. August 21, 2009.

Turner Ray. Lack of Physician Education, Genetic Counseling Could Ruin Value Proposition of PGx Testing, Insurer Says. Genomeweb: Pharmacogenomics Reporter. August 12, 2009.

The Genetics and Public Policy Center. Center publishes new survey of state false advertising laws. dnapolicy.org, August 11, 2009.

Related: State Laws Could Cover DTC Gene Testing. GenomeWeb Daily News, August 13, 2009.

- J.O.

Critiquing HHS's Summary Recommendations on Newborn Blood Spots: Opt-Out is Not Optimal

2009-09-04T10:19:00.007-04:00

On August 21, 2009 the Department of Health and Human Services (HHS) issued “Considerations and Recommendations for a National Policy Regarding the Retention and Use of Dried Blood Spot Specimens after Newborn Screening” relating to storage and use of newborn blood spots (NBS). The agency recommendations discussed assurances of privacy and confidentiality for storage and advised that each state should disseminate policies that promote public trust, emphasize transparency, and encourage informed public participation. It promulgated seven recommendations, including: all states should have a policy in place to address NBS retention, use, and research access; states should provide educational materials to the public and expecting mothers on use and potential future uses; and states should adopt an opt-in or opt-out model if NBS are available for any process outside the screening process or internal screening test development.

However, parental attitudes and pending litigation in this area suggests that the agency’s goals to promote public trust and encourage public participation may not be achieved with these guidelines.

Tarini, et al.’s survey in Public Health Genomics examined parental willingness to permit NBS storage and research. If permission is obtained, 76.2% of parents were very or somewhat willing to permit use of NBS for research, but if permission was not obtained, only 28.2% of parents would be very or somewhat willing to permit use of NBS for research. These results show most parents will permit retention and use as long as they are asked, reiterating the importance of respecting a person’s autonomy and dignity to permit or refuse participation.

Two pending cases in Minnesota and Texas confirm the results of Tarini et al.’s study and demonstrate that collection, retention, and research use of NBS and associated PHI even if conducted or facilitated by the state department of health is biobanking research. Accordingly, it should be governed under the Common Rule and Privacy Rule, meaning actual consent is not only optimal but perhaps required.

In June 2009, Minnesota parents (Bearder, et al.) filed a civil complaint against the state of Minnesota and the Minnesota Department of Health (MDH, et al.) for failing to comply with the Minnesota Genetic Privacy Act and continuing to store and use NBS without consent. The complaint contains a litany of claims, including violation of the Minnesota Genetic Privacy Act, eight tort claims, fundamental right claims, and government taking. Plaintiffs’ claims for intrusion into seclusion, fraud and misrepresentation, and government taking summarize the essence of the alleged injury:

A person has a privacy interest in his or her own blood (acting as guardian for the newborns’ blood) and the medical information that may be obtained from it;
The MDH intentionally omitted that the NBS was not taken solely for screening but would be retained and used, knew that parents would provide them NBS for the purpose of screening, and parents relied on these representations but would not have consented to providing MDH the NBS had they known; and
Blood and genetic information constitute a “valuable national resource” and a represent a “gold mine” for the state and affiliated researchers that the government cannot automatically appropriate even in the name of public health research.

In a prayer for relief, plaintiffs request damages as statutorily indicated, request an injunction, and a cease and desist order against MDH. Minnesota’s history confirms that NBS collection, retention, and research falls within its Genetic Privacy Act, meaning a separate consent is required for each activity; and importantly, that the research conducted or approved by the Minnesota Department of Health is not exempt from these requirements.

In Texas, parents (Beleno, et al.) filed a civil complaint in March 2009 against the Texas Department of State Health Services (TDSHS, et al.) claiming TDSHS has no legal authority to retain and use NBS without consent. Beleno et al. assert this practice violates the privacy principles as well as violates the prohibition against seizure. Plaintiffs request that the court order the destruction of all NBS stored without consent (around 4.2 million samples) since it began the practice in 2002 or obtain retroactive parental consent. Additionally, plaintiffs seek an order to compel TDSHS to disclose for what purposes the NBS have been used and financial transactions involving the NBS.

New legislation TX HB 1672 that implements a compromise by using an opt-out system was signed into law and will take effect September 2009. It remains to be seen whether all Texas parents will agree with this solution and how the court will address the issue of what to do with the 4.2 million NBS that were stored without consent.

If NBS constitute such a valuable resource, then it is incumbent on us to encourage transparency of state health departments’ intentions by educating parents on the importance of using NBS for research purposes, how the state plans to use them, and respect parents enough not to circumvent the law’s intent but actually obtain their consent. If not, parents could turn to the judicial system and potentially prevail, creating a costly and lengthy legal battle for the state health department as well as jeopardizing the current collection of NBS.

-Katherine Drabiak-Syed

Children, Biobanks and Consent

2009-08-18T14:15:00.004-04:00

In a recent policy forum published in the Science, ethicists argue in favor of a policy to recontact children once they reach "the age of consent" to seek permission for continued research on their DNA samples and data. The authors would make an exception for children with samples in disease-specific biobanks. As they see it, the therapeutic benefits of participation in the disease-specific biobank outweigh the risks to subject. While the authors acknowledge the difficulty of maintaining an active biobank while tracking samples and relocating subjects for adult consent, they point to the "long-term benefits of maintaining public trust in biomedical research".

In a related news story, Mats Hansson of Uppsala University in Sweden, Karen Maschke, of the Hastings Center, Ronald Green, director of the Ethics Institute at Dartmouth College, and other ethicists comment on the Science policy forum; see: Child DNA donors should have their say.

References

Gurwitz D, Fortier I, Lunshof JE, Knoppers BM. Research ethics. Children and population biobanks. Science. 2009 Aug 14;325(5942):818-9. PMID: 19679798.

Dolgin E. Child DNA donors should have their say. Nature News. August 13, 2009. doi:10.1038/news.2009.819.

Other Predictive Health Ethics News

Ameer B, Krivoy N. Direct-to-Consumer/Patient Advertising of Genetic Testing: A Position Statement of the American College of Clinical Pharmacology. J Clin Pharmacol. 2009 Aug;49(8):886-8. PMID: 19602717.

Boddington P. The ethics and regulation of direct-to-consumer genetic testing. Genome Med. 2009 Jul 20;1(7):71. PMID: 19638186

Bowen DJ, Harris J, Jorgensen CM, Myers MF, Kuniyuki A. Socioeconomic Influences on the Effects of a Genetic Testing Direct-to-Consumer Marketing Campaign. Public Health Genomics. 2009 Jul 28. PMID: 19641293

Darnovsky M, Reynolds J. The battle to patent your genes: the meaning of the Myriad case. The American Interest [Online]. September-October, 2009.

Giordano J. Quo vadis? Philosophy, Ethics, and Humanities in Medicine - preserving the humanistic character of medicine in a biotechnological future. Philos Ethics Humanit Med. 2009 Aug 14;4(1):12. PMID: 19682382

Serrano-Delgado M, Novello-Garza BI, Valdez-Martinez E. Ethical issues relating to the banking of umbilical cord blood in Mexico. BMC Med Ethics. 2009 Aug 14;10(1):12. PMID: 19678958

Wade N. Genes tied to gap in treatment of Hepatitis C. The New York Times. August 16, 2009.

Wade N. Cost of decoding a genome is lowered. The New York Times. August 10, 2009.

Wright C. Understanding DTC gentic risk prediction services. PHG Foundation News. August 14, 2009.

Wright C. Update on genetic non-discrimination legistlation. PHG Foundation News. August 10, 2009.

- J.O.

New German Law on Genetic Testing: More Than Just a German GINA

2009-08-05T12:03:00.003-04:00

EuroGentest has recently posted an unofficial English translation of the recently passed and soon to be enacted German legislation, the Human genetic examination act (Genetic diaganosis act - GenDG) [PDF - 162 KB]. The new law addresses genetic examinations (including consent, duty to inform, counselling, and disclosure), genetic testing and insurance contracts, workplace issues (including discrimination), and criminal penalties (prison time, in some circumstances, and fines of up to EURO 300,000).

Hat tip: CanGeneTest e-Newsletter, August 3, 2009.

- J.O.

Direct-To-Consumer Baby Gender Mentor Test in a Three Year Stalemate

2009-07-21T15:15:00.005-04:00

In 2005, news headlines excitedly shared the latest development in direct-to-consumer testing: the Baby Gender Mentor early prenatal gender detection test. Acu-Gen Biolab, Inc., a company based in Lowell, Massachusetts, claimed that as early as five weeks, pregnant women could use a simple finger-prick test to obtain a blood sample and send it to Acu-Gen who would use “established qPCR technology analysis” to determine their baby’s sex. Originally claiming their $275 test was “infallible” and 99.9% accurate with a 200% money back guarantee, many expectant women relying on Acu-Gen’s claims eagerly purchased the test.

Months later, numerous accusations surfaced relating to the accuracy of the test, Acu-Gen’s failure to honor the warranty policy, and more disturbingly, allegations that C.N. Wang, PhD, President of Acu-Gen, advised several women that the results of their gender detection test conflicted with their ultrasound results because their baby had chromosomal abnormalities or a fetal “defect.” As a result of this alleged medical advice, many women sought further testing and procedures to determine whether their baby did indeed have a chromosomal abnormality. In addition to enduring the tremendous anxiety caused by Wang’s statements, these women underwent additional procedures such as extra ultrasounds, amniocentesis, and chromosomal testing, accumulating costly and unnecessary expenses.

Why is this seemingly dated piece of news still an issue? Because it has yet to be resolved. Although thepregnancystore.com, a prior vendor of the test no longer carries the product, The Baby Gender Mentor website still sells the potentially dangerously misleading early prenatal gender detection test.

In early 2006, New Jersey law firm Gainey & McKenna filed a class action law suit, Blumer, et. al. v. Acu-Gen Biolabs, Inc., et. al. on behalf of over 100 women who purchased the Baby Gender Mentor test, claiming among other things, that Wang and Acu-Gen’s deceptive advertising, misrepresentation of the test’s accuracy, and illusory guarantee induced them to purchase an inaccurate test and caused them corresponding harm, amounting to eight counts of legal violations.

In the complaint, Blumer et. al. requested:

(1) profit disgorgement and restitution, which would recognize Acu-Gen’s unfair business practices and require them to pay Blumer and the women back, thus honoring their money back guarantee;

(2) compensatory damages, to compensate women for any other undue expenses such as the hundreds or thousands of dollars spent on additional medical testing to clarify whether their baby suffered from a chromosomal abnormality;

(3) punitive damages, to penalize the defendant’s wrongdoing and serve as a deterrent to similar companies; and

(4) injunctive relief to prevent Acu-Gen and Wang from further marketing, selling, and profiting from the test.

Acu-Gen maintains their product works, and Wang has referred to the allegations as “totally bogus.”

Although Gainey & McKenna negotiated on behalf of Blumer and arrived at a settlement agreement with Acu-Gen and Wang, according to Barry Gainey, lead counsel for the plaintiffs, both defendants reneged on their settlement agreement. The District Court of Massachusetts denied Blumer’s motion to enforce the settlement, leaving these women and all other similarly situated individuals at square one- susceptible to cutting edge and supposedly infallible technological advancements that leave them aggrieved without effective or timely recourse.

Barry Gainey confirmed that the case is still active and plaintiffs filed a motion to amend the complaint. To clarify this timetable: over three years have passed since filing serious accusations of legal violations, yet there has still not been a hearing on the case’s merits or enforceable settlement. This progression illustrates the inefficiency of the judicial system to address gaps in federal regulation and the potentially grave impact of direct-to-consumer tests.

Like many other direct-to -consumer tests available online, gender prediction tests have been treated as outside the scope of federal regulation. Despite the FDA’s mandate to regulate medical devices used in the diagnosis of disease or other conditions (such as pregnancy), the FDA has thus far declined to regulate the “home-brew” variety to direct-to-consumer tests where a laboratory such as Acu-Gen uses its own reagents and protocols. Thus, the FDA does not regulate the clinical or analytical validity of these tests. The FTC has similarly followed suit in declining to regulate the industry, despite its authority to prohibit false or misleading advertising.

Private remedy through the judicial system is ineffective in addressing the regulatory shortcomings in direct-to-consumer tests. Over three years later, and the women wronged by the Baby Gender Mentor test have yet to receive their day in court. Meanwhile, Acu-Gen continues to market, sell, and profit from a test that at best, is of uncertain validity, and more troubling, may reflect the allegations in the Blumer complaint. How many more aggrieved individuals and how many more years must the public wait until the FDA and the FTC step in?

-Katherine Drabiak-Syed

Will Stronger Privacy Protections Result in Better Health Data? The Health Privacy Project Recommendations

2009-07-01T16:28:00.005-04:00

The Health Privacy Project of the Center for Democracy & Technology (CDT) recently released a paper arguing for changes in how the HIPAA Privacy Rule protects "de-identified" health information. The recommendations grow from a one-day, CDT workshop held in September 2008. The Health Privacy Project makes the following eight recommendations:

1. Re-examine the Privacy Rule de-identification provisions (in particular, the safe harbor method for de-identification);
2. Strengthen accountability by requiring data use agreements;
3. Expand data anonymization options under the Privacy Rule;
4. Provide incentives to use less than fully identifiable data for certain purposes;
5. Provide support through “Centers of Excellence” in de-identification;
6. Require or encourage the use of limited access datasets and other technical solutions;
7. Require education and training of staff de-identifying data; and
8. Consider increasing public transparency regarding uses of de-identified data.

The Project argues that the HHS needs to re-examine the Privacy Rule "to ensure that the de-identification standard remains robust as re-identification becomes easier."

For readers struggling with the "Babel" of data privacy vocabulary (for example, what's the difference between "anonymous" and "anonymized"?), these recommendations may open the door to additional confusion, especially if #3 (above) means that additional categories of protected data are created. The Privacy Rule currently offers two categories data which are exempt from regulation: "de-identified" (presumed to be beyond the risk of re-identification and therefore not regulated) and not fully identifiable, "limited data sets" (incomplete data which includes some identifiers, for example: birth dates). While the Rule's current categories may seem simple, The Health Privacy Project notes that a "one-size-fits-all de-identification approach" does not, one the one hand, meet the diverse data needs of researchers and health providers, nor does it, on the other hand, provide sufficient protections in era of evolving data technologies.

Reference:

The Health Privacy Project, Center for Democracy & Technology. Encouraging the use of, and rethinking protections for de-identified (and “anonymized”) health data. Center for Democracy & Technology, June 2009. http://www.cdt.org/healthprivacy/20090625_deidentify.pdf

Related:

Knoppers BM, Saginur M. The Babel of genetic data terminology. Nat Biotechnol. 2005 Aug;23(8):925-7. PubMed PMID: 16082354.

Sharyl J. Nass, Laura A. Levit, and Lawrence O. Gostin, Editors; Committee on Health Research and the Privacy of Health Information: The HIPAA Privacy Rule; Institute of Medicine. Beyond the HIPAA Privacy Rule: Enhancing Privacy, Improving Health Through Research. Washington, D.C.: Institute of Medicine, The National Academies Press, 2009. http://www.nap.edu/catalog.php?record_id=12458

Other Stories in the News

Your Genes Aren’t Covered for That: One Year Later, Gaps in Genetic Discrimination Legislation Reveal the Challenges Ahead. Susannah Baruch, Science Progress. June 29, 2009.

FDA’s Current Ability to Regulate Genetic Testing Is Problematic, FDLI-AAAS Colloquium Attendees Say. Food and Drug Law Institute (FDLI) and the American Association for the Advancement of Science (AAAS) [Press Release]. June 22, 2009. http://www.fdli.org/press/pressrelease/062209.pdf

New Comparative Effectiveness Bill Enhances Dx, Genomics Focus. Matt Jones, GenomeWeb. June 18, 2009.

The GINA Law: Consumer Protection in a New Era of Genetic Testing Research Report. N. Lee Rucker, M.S.P.H., AARP Public Policy Institute, May 2009. http://www.aarp.org/research/health/prevention/fs156_gina.html

-- J.O.

In the Literature: Predictive Health 2.0

2009-06-17T16:50:00.004-04:00

The recent double issue of The American Journal of Bioethics (Vol 9 6&7) includes two target articles (followed by open peer commentaries) on the ethical issues of direct-to-consumer (DTC) genomics and social networking.

The issue opens with an editorial by 23&Me's Andro R. Hsu, Joanna L. Mountain, Anne Wojcicki, and Linda Avey: "A pragmatic consideration of ethical issues relating to personal genomics." The editorial offers five points of discussion that the authors find relevant to the discussion of the ethical issues. Facebook users might be surprised to discover that the service is offered as an example of innovative data sharing policies; see point five: "A single data sharing policy cannot fit the needs of all".

The first "target article" reports the result of an attitudes survey about DTC; see: McGuire AL, Diaz CM, Wang T, Hilsenbeck SG. Social networkers' attitudes toward direct-to-consumer personal genome testing. Although the title suggests that "social networkers" are a focus of the article, in reality they are a convenient (or experimental?) survey population--the authors used Zoomerang and Facebook to reach the 1,080 respondents. Of the respondents, 47% reported a pre-existing knowledge of DTC genomics companies like 23&Me, Navigencs, and deCODEme; 6% reported having used one of these services and 64% reported a willingness to use one of the services in the future.

The second "target article" focuses on where all this might be leading; see: Lee SS, Crawley L. Research 2.0: social networking and direct-to-consumer (DTC) genomics. In addition to proposing that social network analysis could be used to explore the impact of these DTC genomics ventures on research, data sharing, and subject recruitment, the authors also ask: "What are the ethical and social implications of new social formations created through the sharing of personal genomic information?" In other words, how will the convergence of Web 2.0 and personal genomic information (PGI) change our social structures?

Commentaries on these articles include a few authored by friends of the PredictER program; see, for example:

Esposito K, Goodman K. Genethics 2.0: phenotypes, genotypes, and the challenge of databases generated by personal genome testing. pp. 19-21.

Caulfield T. Direct-to-consumer genetics and health policy: a worst-case scenario? pp. 48-50.

Other articles and publications of interest:

Genetic privacy and piracy. Nat Cell Biol. 2009 May;11(5):509. PubMed PMID:19404329.
Avard D, Silverstein T, Sillon G, Joly Y. Researchers' perceptions of the ethical implications of pharmacogenomics research with children. Public Health Genomics. 2009;12(3):191-201. PMID: 19204423.

Bombard Y, Veenstra G, Friedman JM, Creighton S, Currie L, Paulsen JS, Bottorff JL, Hayden MR; Canadian Respond-HD Collaborative Research Group. Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey. BMJ. 2009 Jun 9;338:b2175. PMID: 19509425.

Borry P, Howard HC, Sénécal K, Avard D. Health-related direct-to-consumer genetic testing: a review of companies' policies with regard to genetic testing in minors. Fam Cancer. 2009 Jun 2. PMID: 19488835.

Dokholyan RS, Muhlbaier LH, Falletta JM, Jacobs JP, Shahian D, Haan CK, Peterson ED. Regulatory and ethical considerations for linking clinical and administrative databases. Am Heart J. 2009 Jun;157(6):971-82. PMID: 19464406.

Forsberg JS, Hansson MG, Eriksson S. Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results. Eur J Hum Genet. 2009 May 27. PMID: 19471310.

Goddard KA, Duquette D, Zlot A, Johnson J, Annis-Emeott A, Lee PW, Bland MP, Edwards KL, Oehlke K, Giles RT, Rafferty A, Cook ML, Khoury MJ. Public awareness and use of direct-to-consumer genetic tests: results from 3 state population-based surveys, 2006. Am J Public Health. 2009 Mar;99(3):442-5. PMID: 19106425.

Henrikson NB, Bowen D, Burke W. Does genomic risk information motivate people to change their behavior? Genome Med. 2009 Apr 2;1(4):37. PMID: 19341508.

Maliapen M. Clinical genomics data use: protecting patients privacy rights. Studies in Ethics, Law, and Technology. 2009;3(1):Article 1. Available at: http://www.bepress.com/selt/vol3/iss1/art1

Manion FJ, Robbins RJ, Weems WA, Crowley RS. Security and privacy requirements for a multi-institutional cancer research data grid: an interview-based study. BMC Med Inform Decis Mak. 2009 Jun 15;9(1):31. PMID: 19527521.

Mascalzoni D, Hicks A, Pramstaller PP. Consenting in population genomics as an open communication process. Studies in Ethics, Law, and Technology. 2009;3(1):Article 2. Available at: http://www.bepress.com/selt/vol3/iss1/art2

Rogowski WH, Grosse SD, Khoury MJ. Challenges of translating genetic tests into clinical and public health practice. Nat Rev Genet. 2009 Jun 9. PMID: 19506575.

Wilkinson RH. The single equality bill: a missed opportunity to legislate on genetic discrimination? Studies in Ethics, Law, and Technology. 2009;3(1):Article 3. Available at: http://www.bepress.com/selt/vol3/iss1/art3

Gene Patents on the Radio

2009-06-10T15:59:00.001-04:00

Do you own your genes? Should you have a stake in the profits from gene-related products based on "your" genes? What about the "tens of thousands of patents" issues by the U.S. Patent and Trade Office for gene-related products? If you're interested, Rebecca Roberts discusses Patenting Genes with Joshua D. Sarnoff, Hans Sauer, and Shobita Parthasarathy on The Kojo Nnamdi Show (WAMU 88.5 FM, June 4, 2009.)

Listen to the full show online or read a summary Donald Zuhn's summary, "Gene Patenting Debate Continues" (Patent Docs, June 9, 2009).

Genetic Testing and Privacy: Are Our Health Care Policies Adequate?

2009-04-29T10:10:00.006-04:00

As a genetics professional who provides genetic testing, I am aware of the fact that many individuals contemplating genetic testing cite insurance and employment concerns as major reasons to forego testing. For that reason, I heaved a sigh of relief on May 21, 2008 when the Genetic Information Non-Discrimination Act (GINA) was signed in to law. First introduced in 1995, at a time when only about 300 genetic tests were currently in use and these for mainly rare diseases, it was called both forward-thinking and premature. Now hailed as the first civil rights law of the new century, GINA will prohibit group and individual health insurers from using a person’s genetic information in determining eligibility or premiums and prohibit employers from using a person’s genetic information in making employment decisions such as hiring, firing, job assignment, or other terms of employment. Guidelines for segregating genetic information from other medical records are expected to be forthcoming.

As I thought more about it, however, I realized that the world has changed rapidly in the 14 years since this bill was first introduced, and that these changes may well undermine the protections that GINA was meant to provide. I see four main threats: 1) more genetic information everywhere, 2) data expansion, 3) genome wide association studies, and 4) electronic medical records.

Under the more information heading, the terms “Genetic information” and “genetic condition” are becoming more difficult to define. We are finding that almost all illness has some genetic component such that making clear distinctions between genetic and non-genetic health information is becoming increasingly meaningless. Under the data expansion category, genetic research has shifted from diseases linked to a single gene (Huntington disease, cystic fibrosis) to more common and complex illnesses characterized by the interactions of multiple genes and environmental factors (asthma, diabetes). There are now over 1500 genetic tests in use and in the not-so-distant future, nearly all health records will include substantial genetic information. Genome Wide Association Studies (GWAS) look for single changes in the hundreds of thousands of base pairs (A,T,C,G) that make up the human genome associated with a particular illness or condition. These conditions may be as serious as breast cancer or as frivolous as what type of ear wax you are prone to develop. These tests are being aggressively marketed directly to consumers and can be ordered on line for less than $400. There is little oversight of the companies marketing these tests and as one who works in the field of genetics, it seems almost criminal to test for one mutation associated with cystic fibrosis out of the more than 1000 known CF mutations and call that information useful in the absence of extensive educational efforts. It may not be long before our patients come to our offices with their printouts from 23&Me and ask to add them to their medical record. The fourth threat may be the shift from paper-based medical records to electronic health records (EHR) with their goal of standardization, compatibility, and ease of transport. In a paper-based system, the greatest protection of individual privacy is chaos, the inability to aggregate a complete record from multiple providers over time. Comprehensive and longitudinal medical records will inevitably contain sensitive information and patients will no longer have the option of selective recall in the sense of “is that depressive episode I experienced in graduate school after being mugged really relevant information for the orthopedist performing my knee surgery twenty years later?” Electronic medical records will make it even more difficult to sequester genetic information.

One other developing trend may also play a role, the refinement of personalized medicine, the ability to target drug therapies customized to each person’s genetic makeup to both improve the effectiveness of current treatments and to reduce side effects. Pharmacogenetic testing is becoming standard practice in selecting drugs and dosages for certain cancers while toxicogenetics, the use of GWAS studies to predict how individuals may respond to certain toxins, is becoming more important in assessing both individual and public health risks. If genetic factors appear to play a role in individual and/or community resistance to flu viruses, who knows what might happen.

Technology moves rapidly while our legislature does not. A bill introduced to fix a problem in 1995 may not be as relevant or as useful in 2009. So while I am still happy that GINA was finally passed, the devil, as they say, is in the details, and it remains to be seen how much protection is actually provided for our patients and their families.

Kimberly A. Quaid, Ph.D.

Consent & Conversation in Population-Based Research

2009-02-23T13:44:00.005-05:00

PredictER's Peter H. Schwartz will be presenting the Walter C. Randall Lecture in Biomedical Ethics at the annual Experimental Biology meeting of the American Physiological Society, to be held in New Orleans, April 18-22, 2009. Dr. Schwartz's talk, Consent and Conversation in Population-Based Genetic Research, will take place on Tuesday, April 21st at 2:00 p.m. Additional information is available here.

Abstract: The future of research into the human genome depends on the creation of massive biobanks, databases that combine phenotypic information about individuals (such as their medical history) with genetic information and biologic samples collected from them. Some of the most important biobanks will involve the participation of thousands or millions of people, representing a broad swath of an entire community. But signing up such large numbers raises serious challenges for traditional ideas of consent by research subjects. We need to formulate a new model of ethical research that relies on a conversation with a community rather than just informed consent by individuals.

Amy Lewis Gilbert

Long Term Outcomes of Presymptomatic Testing in Huntington Disease

2009-02-17T09:18:00.006-05:00

Huntington disease (HD) is a late onset autosomal dominant neuropsychiatric disorder. Symptoms include a movement disorder, mood disturbances and dementia. The average age of onset is approximately 40 years of age and if one of your parents is affected with the disease, you have a 50% chance of having inherited the genetic mutation that causes HD. Men and woman are equally affected.

In 1993, the genetic mutation that causes Huntington Disease was discovered. This discovery meant that direct genetic testing for the presence or absence of the HD mutation could be offered. Testing is usually offered within a multidisciplinary framework including geneticists, neurologists, psychologists, nurses and social workers and within a testing protocol that involves a neurological examination, pretest counseling, results in person and available follow-up. Estimates indicate that in Europe, less than 20% of individuals at risk for HD takes the test. Estimates for the United States suggest that the uptake of testing is even lower. The lack of a cure for HD, or a treatment that can delay the onset or slow the progression of the disease, is likely a major factor in the low uptake of testing.

Recently, in some HD circles, there have been calls to increase the number of individuals getting tested in order to have a cohort of gene positive individuals ready to participate in future clinical trials. This desire to increase the number of individuals tested is, in my opinion, wrong headed for many reasons, but a recent paper on the long term effects of testing also suggests that caution is in order.

In February of 2009, the European Journal of Human Genetics published a paper examining the long term impact of presymptomatic testing for Huntington disease. The authors interviewed 119 (57 gene carriers and 63 non-carriers) asymptomatic individuals after an average delay of 3.7 years after they received their genetic test result. The main outcomes of interest in the paper were social and psychological adjustment after testing (1).

The results were as follows: The overall scores for social adjustment were similar in carriers and non-carriers and were in the normal range for both groups. Carriers were not more anxious than non-carriers, but current depression was significantly more frequent in the carriers. Prior to testing, there were no differences in the number of carriers and non-carriers who had experienced a depressive episode. After testing, however, the percentage of carriers experiencing depression rose from 42% to 49% while the percentage of non-carriers experiencing depression fell from 45% to 31%. Perhaps even more important is the fact that carriers had significantly higher scores than non-carriers when evaluated with the Beck Hopelessness Scale, considered to be a measure of suicidality. Of note is the fact that while there was one suicide attempt and one hospitalization for major depression after testing in the carrier group, three non-carriers also attempted suicide, one was hospitalized for depression and one hospitalized for a psychotic episode. Despite this evident distress, only 31% of the carriers and 15% of the non-carriers were under psychiatric care and only 36% of the carriers and 15% of the non-carriers were under treatment with antidepressant or anti-anxiety medications. Further investigation indicated that the best predictor for the occurrence of depression after taking the test was the presence of a previous depressive episode. In other words, individuals who have experienced depression prior to testing are more likely to experience depression after testing. Finally, when asked to rate the current impact of the test results on their lives, carriers gave a more negative rating than non-carriers and reported that they had less ability to cope with the test results than non-carriers. Again, it is important to note that more than 25% of the non-carriers reported difficulty coping with the test result.

It is possible to compare these results with a previous study looking at long term outcomes 7-10 years after testing (2). This study of 142 tested individuals and their partners found that carriers and their partners were more distressed immediately after the test. Their outlook appeared to improve somewhat in the 2-3 year post test period but became more negative as the age of onset approached. This study also found that carriers who were lost to follow-up reported more pretest distress than did those carriers who participated in the follow-up study. This finding, which reflects both my own experience and the anecdotal experience of other test center directors, is important because it suggests that most studies examining the impact of testing may tend to underestimate the amount of distress that is being experienced by those who have been tested.

So what do these results tell us? In the 2009 study, almost half of the carriers where experiencing depression after testing. However, almost a third of non-carriers were also experiencing depression. At least two studies have suggested that it might take up to five years for non-carriers to experience a positive change in their quality of life after receiving a favorable test result (3,4). One explanation that has been given is that it takes this long to resolve the emotional state of mourning for the loss of being at risk and the end of doubt about one’s genetic status. Others have hypothesized that that non-carriers may be experiencing 1) survivor guilt for not having the HD gene when others in the family might 2) regret for life decisions made in the past as a function of being at risk, 3) inability to leave behind the at risk mind set, 4) inability to truly believe the test results, and 5) negative reactions on the part of family members (1).

Whatever the explanation, these results indicate that individuals at risk, carriers and non-carriers alike, may be a vulnerable population and that it is particularly important to assess and treat depression before testing and to provide psychological support and psychiatric care after testing. These results also suggest that the decision to be tested should not be made lightly and that the impact of testing may last a long time after results are given.
References:

1. Gargiulo M, Lejeune S, Tanguy ML et al, (2009). Long-term outcome of presymptomatic testing in Huntington disease. European Journal of Human Genetics, 17:165-171.

2. Timman R, Roos R, Maat-Kievet A, and Tibben A. (2004) Adverse effects of predictive testing for Huntington Disease underestimated: Long term effects 7-10 years after the test. Health Psychology 23:189-197.

3. Decruyenaere M, Evers-Kiebooms G, Cloostermans T et al. (2003) Psychological distress in the 5-year period after predictive testing for Huntington disease. European Journal of Human Genetics 11:30-38.

4. Almqvist EW, Brinkman RR, Wiggins S, Hayden MR (2003) Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington disease. Clinical Genetics 64: 300-309.

Kimberly A. Quaid, PhD

Will electronic medical records threaten my privacy? No, but…

2009-02-07T15:29:00.003-05:00

I’ve been thinking a lot about privacy lately. For example, among the ways President Obama has indicated his commitment to a 21st century health care system, is “by computerizing medical records … saving countless lives and billions of dollars.”

His proposal is already underway in many communities around the country, including Indianapolis, whose Regenstrief Institute is a nationally recognized leader in the development and diffusion of electronic medical records [EMRs]. The conversion of millions of paper records to electronic records, and the organization of hospitals and physician groups to agree on how best to access and share these records, presents a number of logistical and technical challenges. None of these are insurmountable. Moreover, given sufficient resources and political will, it is likely that the President’s vision can be translated into reality sooner rather than later – so long as we can figure out how to handle the elephant in the room (and no, this is not the Republican caucus). The elephant is privacy – the idea that access to personal health information is something that we as individuals should be able to completely control, and that access by others (especially unauthorized third parties) constitutes a serious breach of personal space, let alone any negative repercussions from malicious use. But does the move to EMRs require a dramatic change in the ethics of privacy? Should people be more worried once their records are accessible to more health providers? How can they be sure that errors will be quickly corrected?

I thought I had completely settled views on these questions: namely that the risks from privacy invasion are potentially serious and people are entitled to be frightened. In the case of my personal health information, I have confidence that those experts working on the architecture for the system – the checks and balances, the encryption techniques, gateways, passwords, algorithms and who knows what else – will construct it with exactly those worries in mind. Interestingly, I’m more upset right now that in the past few days someone with plenty of time on their hands has figured out a way to upload a picture of me from the internet and create a brand new Facebook page using my name. This is creepy and it’s wrong. Should I be more worried about a breach in my electronic medical record that accidentally discloses to the world that Eric Meslin suffers from migraines (true by the way), or the Facebook hacker who convinces unsuspecting people to become “friends of Eric Meslin” in order to expose them to “wall-to-wall” postings that attribute opinions about privacy to me which aren’t my own?

--Eric M. Meslin

New Technologies and Old Laws: Square Pegs in Round Holes

2009-01-21T11:23:00.005-05:00

I sit in a lot of meetings where I people discuss how new health information and technology will fit into existing policy and law. Many of these discussions go over my head, as they are bogged down in minutiae of law and policy far beyond my ken. I have often assumed that these discussions are important, perhaps even necessary, as our system of law is built on precedent, reaching back into the past to inform the future.

And then I read something like this.

New President Barack Obama will have to give up his Blackberry. The entire White House Staff can’t Instant Message. Eight years ago, President Bush sent a message to 42 friends and relatives right before assuming office explaining that he had to give up email. I know what I will say to them if they ever try to come for my iPhone; it’s not fit for print and involves my cold, dead fingers.

Why? It has to do with something called the Presidential Records Act. It turns out that all of the documents that come into contact with a President and Presidency need to be preserved and one day made public. Don’t get me wrong, I understand the importance of such a law, and I am all in favor of it. But even that law recognized that there had to be exceptions. Presidents, and their staff, do need to keep some things private. Conversations aren’t all recorded; neither are telephone calls.

Personally, I hate to talk on the phone. So, given the chance, I will use email, text messaging, or even Instant Messaging to talk to friends and colleagues. For me, and many others, it’s faster, it’s easier, and it’s preferable. I can tell you that I would be much less productive professionally, and much less happy personally, if you told me I had to stop.

Here’s the problem. The Presidential Records Act was written in 1978. No Blackberries. No Instant Messaging. No email. It is simply ridiculous that President Obama can’t have a Blackberry and David Axelrod can’t Instant Message because of a law written thirty years ago. We shouldn’t have to figure out how to make these new technologies fit into law that couldn’t predict them. We need new law.

Which brings us back to health technology. Those old laws and old policies – they too were often written in a time when the issues and difficulties we face today were simply incomprehensible.

It may be just as unreasonable to think that we can use them to inform what we should do today. Sometimes, precedent isn’t enough.

We shouldn’t have to figure out how to make these new technologies fit into policies that couldn’t predict them. We need new policies.

Aaron E. Carroll

Ethics and Health Information Technology: Kenneth W. Goodman, PhD

2009-01-15T11:56:00.004-05:00

Join us on January 29th from 12 - 1 PM for Kenneth W. Goodman's discussion: "Ethics and Health Information Technology: New Challenges in Clinical Care and Research in a Pharmacogenomic World" [Flyer, 71 KB - PDF ]

In addition to being a widely recognized expert on the ethical issues of information technology, Goodman is co-director of the University of Miami’s Ethics Programs and founder and director of its Bioethics Program and Pan American Bioethics Initiative. The Ethics Programs have recently been designated a World Health Organization Collaborating Center in Ethics and Global Health Policy, one of four such centers in the world and the only one in the United States.

Goodman notes, in an abstract for this presentation, that the intersection of ethics, computing, and medicine is transformative. He expects "this transformation will continue and acquire greater urgency in a post-genomic, evidence-based world, as digitized genetic data introduces new challenges for clinicians, researchers and policy makers."

This is truly a timely topic; so, join us in Room 1110 of the HITS Building, 410 W. 10th Street, Indianapolis, Indiana. - J.O.

Personalized Medicine: PredictER Collaborator Featured in NY Times

2009-01-12T14:41:00.006-05:00

David A Flockhart, MD, PhD, Division Chief of the IU Department of Medicine’s Division of Clinical Pharmacology and PredictER Collaborator, was featured in a December 29th New York Times article that is part of a compelling series examining steps taken toward medicine based on evidence. The article, Patient’s DNA May Be Signal to Tailor Medicine, provides a highly readable overview of personalized medicine, illustrates the field’s inherent potential to increase positive outcomes and decrease costs, and then discusses some of the conundrums that genetically-tailored medicine presents. The author, Andrew Pollack, uses the outcomes of Flockhart’s extensive tamoxifen research to aptly illustrate the medical promise of genetic testing and its broader implications. Flockhart’s research demonstrates that a particular enzyme, CYP2D6, is responsible for converting tamoxifen into a different substance, called endoxifen, which is then directly responsible for fighting breast cancer. The CYP2D6 gene, however, varies between people such that the mechanism is inactive in about 7% of the population, and only moderately active in 20-40%. As the article points out, most patients are now treated with a more expensive class of drugs that demonstrated greater efficacy in clinical trials conducted before the role of CYP2D6 was fully understood. For those women with active CYP2D6, however, tamoxifen may well be the better alternative for the patient, both medically and economically. Genetic testing to determine gene activity in this scenario may therefore have vast economic implications for the pharmaceutical industry.

Amy Lewis Gilbert

Predictive Health, Insurance & Security: A Spiritual Perspective

2008-12-18T10:05:00.008-05:00

Over the last few days, I have heard two discussions – one on the radio and the other at the Indiana University Center for Bioethics – that have given me a new and deeper understanding of the meaning of health insurance and of the challenges of incorporating Predictive Health information into healthcare. These two presentations came together to give me a new understanding of the spiritual dimension of health insurance.

The first discussion occurred on the NPR program "Speaking of Faith," hosted by Krista Tippett. This week the program featured an interview with Parker Palmer, a Quaker writer and educator, and focused on themes related to the current economic meltdown. When discussion turned to the role of greed in causing the crisis, Palmer commented that greed stems at least partly from a sense of isolation and a lack of feeling of being part of a community. If a person feels that he cannot rely on others for help at times of need, he will understandably develop the impulse to acquire as much as possible, to attempt to amass a sort of fortress against possible danger to him and his family.

This immediately reminded me of the state of healthcare and health insurance in this country. As premiums rise and increasing numbers of businesses cut back on health insurance for employees and retirees, more and more Americans are living without health insurance or facing the very real possibility of this. And what could cause a greater feeling of isolation – of living without support from others – than finding yourself without available or affordable health insurance? Even those of us who do have health insurance must feel insecure as we observe the growing ranks of uninsured and underinsured people. The historic economic downturn has made the trend only worse, of course.

Palmer’s comment highlights one of the many destructive effects of fearfulness. And it highlights the importance of making health insurance available and affordable. In short, universal health insurance, in my view, would play a significant role in helping to combat the feeling of isolation and helplessness that many feel in the current situation.

And here’s where Predictive Health information comes into the picture. Predictive Health Research (PHR) promises to provide new ways to identify individuals’ specific level of health risk and provide new, more targeted medical care. A healthcare system that provided excellent preventive care, guided by breakthroughs in PHR, could greatly reduce mortality and morbidity. We could improve the sense of safety and trust that supports a healthy spiritual life. But here’s where the fly lands in the ointment. At our biweekly meeting of the PredictER program this week at the IU Center for Bioethics, Eleanor Kinney JD, MPH, and Jennifer Girod JD, PhD, RN, presented a talk about the ways that Predictive Health information threatens to undermine the current system of health insurance. In short, identifying people’s risk levels creates perverse incentives for patients and for insurance companies. Individuals with lower risk have less reason to join the insurance “pool,” since their premiums disproportionately support care for others, rather than themselves. At the same time, insurance companies have the incentive of excluding those at higher risk, or at least charging them higher premiums. As Kinney and Girod pointed out, there are various schemes for blocking this destructive dynamic, although things get difficult pretty fast.

But sitting there listening to them, I realized that once again we were talking about the challenge of how to bind us together as a society and take care of everybody – the high risk and the low risk alike. How tragic if the same scientific breakthroughs that could allow for improved preventive care for all were to result in worse care and isolation for those at the highest risk. That would truly be a situation where isolation, not trust and community, would have its day.

Peter Schwartz, MD, PhD

Translational Medicine, Cancer and Biobanks: Predictive Health Ethics Events at IU

2008-11-28T12:47:00.004-05:00

On December 1-2, 2008 the Indiana Health Industry Forum will present From Basics to Bench to Bedside: Emerging Trends and New Developments in Cancer Discovery, Diagnosis and Treatment. The purpose of this summit, the third in a series, is to examine the state of life sciences research in Indiana with a diverse range of individuals and institutions interested in cancer research, diagnosis and treatment. Of particular interest to those keen on predictive health is a panel discussion on December 2nd at 1:00 PM entitled “Tailored Therapeutics and Implications for Regulatory Endpoints.” Panelists include Jerome Yates, MD, MPH, National Vice President for Research at the American Cancer Society, Eric Meslin, PhD, Director of the Indiana University Center for Bioethics (IUCB), Lawrence Lesko, PhD, FCP, Director of the Office of Clinical Pharmacology at the FDA’s Center for Drug Evaluation and Research, and Silvana Borges, MD, Medical Officer for the Genomics Group of the same.

On December 4, 2008 the Indiana Clinical and Translational Sciences Institute and IU Simon Cancer Center are hosting a symposium entitled Biorepositories: Scientific, Technical and Ethical Considerations at the Cancer Research Institute on the Indiana University – Purdue University Indianapolis campus. IUCB Faculty Investigator Jennifer Girod, JD, PhD, RN, will be giving a talk on “Ethical and Legal Considerations in Biobanking.” Other presentations will address issues specific to the storage of biospecimens, the extraction and processing of RNA and DNA, tissue procurement, the impact of storage conditions on DNA, and the benefits of biorepositories to research.

On December 8- 9, 2008 the Indiana University School of Medicine will be holding an event that addresses the FDA in the 21st Century: Issues and Their Impact on Medical Technology. This event, which will focus on the future role of the FDA in a changing market, is part of the medical school’s Medical Technology Leadership Forum [Flyer - PDF]. IUCB Director Eric Meslin, PhD, will be moderating a morning session on December 9th specific to ethics and conflicts of interest with Ora Pescovitz, MD, President and CEO of Riley Hospital for Children and Elazar Edelman, MD, PhD, Director of the Harvard-MIT Biomedical Engineering Center. – Amy Lewis Gilbert

Genetic Privacy: T.J. Maxx and the NIH

2008-11-25T10:45:00.006-05:00

What do T.J. Maxx, the V.A. and NIH have in common? They have all been involved in handling personal data in such a way that individual privacy and confidentiality may have been violated. In December 2006 the financial information of over 40 million customers of T.J. Maxx and Marshall’s was accessed by a hacker potentially exposing customers to identity theft. Also in 2006, a laptop computer containing personal information including names, addresses, dates of birth and social security numbers for 38,000 veterans went missing. This past August, large amounts of aggregate human DNA data that the National Institute of Health and other groups had made open to researchers around the world was removed from public view due to privacy concerns. The reason behind this removal was a study (doi:10.1371/journal.pgen.1000167) released by the Translational Genomics Research Institute and the University of California showing that using an algorithm and a microarray a curious individual could possibly identify whether or not an individual’s DNA was in a genome wide association study (GWAS) database.

Why does this matter? NIH and other groups conducting GWA studies know that one of the core ethical components of their work, and a critical element for convincing people to participate in these studies, is being able to promise that their personal medical and genetic information will not be compromised and will never be used in such a way that might cause them harm. Being able to demonstrate, for example, that a representative of law enforcement armed with a DNA sample from a crime scene could search an existing NIH database for a sample match and be successful, undermines this promise in a way that might give us all pause. Researchers will still have access to the data, but they will now have to apply for access to the data and agree to protect the confidentiality of the data.

As researchers strive to use the information gained by the Human Genome Project for the improvement of health care and the prevention and treatment of disease, more and more of us will be asked to participate in efforts to establish enormous databases of our genotypic (DNA) and phenotypic (medical records) information. I still shop at Marshall’s, but I am not sure I will be giving my DNA anytime soon. --Kimberly A. Quaid

Patient Attitudes Toward Genotyping: Willingness to Donate

2008-11-17T10:00:00.002-05:00

The November 2008 issue of Obstetrics & Gynecology included an article addressing an Indiana University study which sought to ascertain the willingness of women to donate DNA specimens. The article, “Patient Attitudes Toward Genotyping in an Urban Women’s Health Clinic” (David M. Haas, Jamie L. Renbarger, Eric M. Meslin, Katherine Drabiak, and David Flockhart), acknowledges the great promise of the emerging fields of genotype association studies and pharmacogenetics, which will theoretically allow for targeted medical interventions, personalized drug therapies and the more efficient allocation of healthcare resources. The study compared women’s willingness to donate DNA specimens via blood and saliva collection, and looked at several other factors to confirm the findings of previous studies regarding which of those factors predicate a willingness to donate. The authors found that more women are willing to donate DNA using saliva than blood, and that higher levels of education (college and beyond) and greater knowledge of genes and DNA increase women’s willingness to donate.

So how do these findings translate into ethical practice? How will they inform the future collection of samples for both medical and research purposes? It seems that researchers and practitioners should bear in mind that less-invasive methods of DNA procurement are preferred, and that education about purpose and use be stressed during the informed consent process. When asked about the translational implications of this study, Dr. Eric Meslin, co-author and Director of the Indiana University Center for Bioethics, said: “the key to success in any biobanking effort lies in the scientific community’s ability to both acquire and maintain the public’s trust. Informed consent may be evidence of the public’s willingness to permit specimens to be used for research, but consent should never be confused with the public’s willingness to trust science to do the right thing.” -Amy Lewis Gilbert

Genetic Testing and Personalized Drugs: PredictER at Spirit and Place

2008-11-07T14:29:00.000-05:00

As part of the 2008 Spirit & Place Festival, a panel of experts from the Indiana University Center for Bioethics and the Indiana University School of Medicine will join together to illustrate the complex intersection of ethics, medicine and science. Dr. Eric M. Meslin, director of the Center for Bioethics; Dr. Kimberly A. Quaid, professor of medical and molecular genetics; and Dr. David Flockhart, chief of the division of clinical pharmacology, will present Imagining Our Medical Future: The Ethics of Predictive Genetic Testing and the Search for Personalized Drugs this Sunday, November 9th, 2:00-4:00 p.m. at the Indiana Medical History Museum, 3045 W. Vermont Street, Indianapolis. Free tours of the museum will be available both before and after the panel discussion. More information regarding the Spirit & Place Festival, which is runs now through November 16th, is available at www.spiritandplace.org - ALG

Genetics, Ethics, and Tasmania

2008-10-29T15:56:00.002-04:00

If you're in the Indianapolis, Indiana area on November 10th, join us at the IU Center for Bioethics with Mark Stranger, Ph.D., from the University of Tasmania. Our guest will be delivering a talk on Genetics, Ethics and the Law Down Under: A Tasmanian Perspective from 3:00-4:00PM in the HITS Building, Suite 3100 [Flyer - PDF 74 KB]. Dr. Stranger, a sociologist with expertise in risk assessment, social change, biobanking and social research methodologies, is a Senior Research Fellow and Executive Director for the Centre for Law and Genetics at the University of Tasmania. He also manages the Centre’s multidisciplinary and international Biotechnology, Ethics, Law and Society Network.

This event will be convened by the Indiana University Center for Bioethics; IUPUI Consortium for Health Policy, Law and Bioethics; and the IUPUI Office of International Affairs. - ALG

PredictER News Brief - Published Today

2008-10-14T15:15:00.003-04:00

The most recent edition of PredictER News Brief is now online. PredictER News Brief provides a digest of news and research relevant to the ethical, legal and social implications of predictive health research. Join the PredictER News Brief listserv or view past issues in the archive.

The October 14th edition includes links to stories related to deCODE's new genetic test to screen for breast cancer risks and (as always) a list of recent journal articles on the ethical issues of predictive health and genetic research. Including:

Alpert S. Privacy issues in clinical genomic medicine, or Marcus Welby, M.D., meets the $1000 genome. Camb Q Healthc Ethics. 2008 Fall;17(4):373-84.
[View abstract or record.]

Goodman KW and Cava A. Bioethics, business ethics, and science: bioinformatics and the future of healthcare. Camb Q Healthc Ethics. 2008 Fall;17(4):361-72.
[View abstract or record.]

Hogarth S, et al. The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues. Annu Rev Genomics Hum Genet. 2008 Sep 22;9:161-182.
[View abstract or record.]

Singer E, et al. Trends in U.S. Attitudes Toward Genetic Testing, 1990-2004. Public Opin Q. 2008 September 1, 2008;72(3):446-458.
[View abstract or record.]

Wallace S, et al. Governance mechanisms and population biobanks: building a framework for trust. GenEdit. 2008;6(2):1-11.
[View abstract | PDF]

What do you mean by "race"? A call for standards and empirical ethics research.

2008-09-18T14:21:00.004-04:00

You've probably read an article or two that reports the results of a race-based investigation. Perhaps it was a study of health disparities, a survey of patient attitudes, an examination of a race-based intervention or new medication to be marketed to a specific race-based demographic. If you wanted to do a systematic review of these papers, you might be vexed by the difficulty of finding a common, valid definition of "race". As a socially-constructed category, defining the limits of race and ethnicity is a slippery business and one that has a problematic past in the history of science and medicine. With this in mind, Vural Ozdemir, Janice E. Graham and Beatrice Godard make a call for clarity in "Race as a variable in pharmacogenomics science: from empirical ethics to publication standards" (Pharmacogenet Genomics. 2008 Oct;18(10):837-41. - PubMed CiteULike). The authors argue for the use of empirical ethics research to inform the development of new publication standards to "minimize the drift from descriptive to attributive use of race in publications". In this context, empirical ethics, or "applied social science methodologies … to better understand, for example, the 'lived' experiences of user groups", would identify blind-spots in predictive health research and would help researchers, regulators, policy-makers, and editors "differentiate between an imprecise (yet measurable) predictive biomarker, from a construct such as race".

Given the uproar around BiDiL and other race-based pharmacogenomic ventures, the authors have made a timely, if not over-due, call for publishers and ethics researchers to collaborate in developing standards for the use of the controversial category in published research. - J.O.

Personalized Therapeutics at IU

2008-09-04T11:03:00.008-04:00

In August 2008, the Indiana University Department of Medicine’s Division of Clinical Pharmacology began a new series of compelling seminars that may be of great interest to those involved in predictive health research ethics. The Personalized Therapeutics Seminar series commenced on August 5th with a presentation on the FDA’s Sentinel System for Post-market Drug Safety Surveillance given by Barbara Evans, J.D., Ph.D. from the Health Law and Policy Institute at the University of Houston Law Center. Additional speakers this fall, all from the Indiana University School of Medicine, have included Dr. Noah Hahn presenting on the Indiana University Cancer Biomarker Study, Dr. David Haas addressing PREGMED and the search for individualized pharmacotherapy in pregnancy, Dr. Zeruesenay speaking about emerging in vivo phenotyping methods and Dr. Tatiana Foroud addressing the results of whole genome association studies and how they may change our approach to medicine. The next seminar, entitled Personalized Therapeutics in Breast Cancer: A Model for Translating Pharmacogenomics, will be presented Dr. David Flockhart, Chief of the Division of Clinical Pharmacology, on September 9th. All seminars in this series are held on Tuesdays from 12:00pm – 1:00pm, in room W7120 on the 7th floor of the Wishard Myers Building.

For a complete schedule, please see: http://medicine.iupui.edu/clinpharm/PMG/PT_Seminars.asp [link edited 9-18-09]

Amy Lewis Gilbert

Medical Records, Insurance and Prediction: GINA Will Not Keep this Fox Out of the Henhouse

2008-08-08T12:04:00.002-04:00

In a recent Washington Post article (4 August 2008), "Prescription Data Used to Access Consumers", Ellen Nakashima writes about the availability of medical records for data mining. Insurance companies have begun to use databases of prescription records to assess the risks of insuring individuals or when deciding to pay for a treatment. For example, a report could show that an "individual has been on the highest does of the cholesterol-reducing drug Zocor for 18 months" and an insurance company could determine that the patient has "a very high, near-intractable cholesterol problem … and could avoid a costly blood test". The article also points out that these records are more honest than many applicants for insurance and could reduce the cost of insurance while facilitating faster decision making. While HIPAA stipulates that patient consent must be acquired before these records can be accessed, "HIPAA does not give the Department of Health and Human Services the ability to directly investigate or hold accountable … pharmacy benefit managers". Nakashima reports that the increasing availability of electronic records will result in a market in which data mining organizations compete to sell the most complete and cheapest sources of patient data to insurers. Joy Pritts, of the Georgetown University Health Policy Institute observes that "Most people don't even know these organizations exist . . . ." Privacy consultant, Bob Gellman notes that "consumers will likely continue to have no real meaningful choices if they want insurance". Richard Dick, a database designer, suggests better privacy tools for consumers which would allow patients to be more specific when consenting to release medical information, "Otherwise … you have the fox in charge of the henhouse".

I want to know what incentives motivate patients to consent to release this information in the first place. I'm guessing that insurance coverage may depend upon consent; if so, is this real "consent"? – J.O.

PredictER Year-End Review

2008-08-01T12:21:00.001-04:00

Join us Monday afternoon (August 4th, 3-4pm) at the Center for Bioethics for a year-end review of PredictER's progress. PredictER's director, Eric M. Meslin, will share his assessment of the program's accomplishments and goals for the coming year. This is an excellent opportunity to learn about the services we provide to our constituents with an interest in predictive health research, medicine, and the associated ethical and legal issues. Refreshments will be served.

IU Center for Bioethics, 410 W 10th Street, Suite 3100. Indianapolis, IN 46202 | 317-278-4034

What's in Steve Jobs's Genome? Genetic Information at the Top

2008-07-29T15:06:00.001-04:00

Jacob Goldstein of The Wall Street Journal's Health Blog asks "Do Apple Investors Have Right to Steve Jobs's Health Info?" -- Investing is a gamble and gamblers need good information to make the best bets. Publicly traded companies are required (with varied levels of success) by the SEC to be transparent with their books. So, if you're thinking about investing in a company with a very charismatic CEO, you might want to know about the results of his most recent physical exam. As genomic medicine improves one could imagine a future in which "reasonable" investors demand a genome profile too. Goldstein observes that Jobs is both a "swashbuckling entrepreneur" and a pancreatic cancer survivor. I'm unsure how that information would help an investor and I'm fairly certain the science of reading the genomic tea leaves would not be much help, at least not yet.

IndyStar - Do you want to know? Direct-to- consumer DNA tests ...

2008-07-01T10:16:00.001-04:00

PredictER's Kimberly Quaid and Indiana University Department of Medical and Molecular Genetics' Dr. Gail Vance comment on direct-to-consumer genetic testing in today's issue of The Indianapolis Star. Quaid notes:

"For a lot of genetic conditions, there is not much we can actually do to change them. So, what are people getting out of the tests?" … While legitimate genetic tests exist, such as one to detect the BRAC mutations for breast cancer, Quaid said, she doesn't see the sense in identifying risks for every disease. She also doubts the validity of tests used by some firms. … Traditionally, health-related genetic tests have been available only through health-care providers, who decide whether they are based on family history and symptoms, and who interpret results for patients. Quaid said that method better safeguards consumers.

The Best Predictive Health Ethics Blogs - June 2008

2008-06-30T15:46:00.005-04:00

California and Direct-to-Consumer Genetic Testing:

California's decision to send cease-and-desist letters to thirteen direct-to-consumer genetic testing companies (including 23andME, deCODEme, Knome, and Navigenics) ignited a blogging wild-fire of mostly outraged responses. Some of the more widely read expressions of protest were blogged at Wired Science and include Thomas Goetz's much-echoed Attention, California Health Dept.: My DNA Is My Data (17 June 2008). For an alternative reaction see Steve Murphy's posts on the topic at Gene Sherpa, which include: Do you hear that sound Mr Anderson? (15 June 2008), A$$ Kicking (17 June 2008), and R'Uh-R'Oh Shaggy!!! (17 June 2008). Although many of the replies to Murphy's posts offer only more expressions of outrage, Daniel MacArthur at Genetic Future engages Murphy in a thoughtful exchange beginning with California cracks down on genetic testing companies (15 June 2008) and Cat-fight over California (18 June 2008). Finally, for a good overview of the news and blogging on the subject, see Blaine Bettinger's recent post The Genetic Mess in California - A Round-Up, and My Thoughts (30 June 2008) at The Genetic Genealogist.

Employee Wellness

Matt Mealiffe of DNA and You writes in response to the news that Japan will require companies and local governments to "measure the waistlines of Japanese people between the ages of 40 and 74 as part of their annual checkups" with the standard of "33.5 inches for men and 35.4 inches for women" (see Norimitsu Onishi, Japan, Seeking Trim Waists, Measures Millions. The New York Times. 13 June 2008). In Mealiffe's assessment (14 June 2008), mandatory waistline measurement is "bold social policy" which may be, however, genetic discrimination.

In an unrelated post on a similar topic, Jane Sarasohn-Kahn of Health Populi reports employee attitudes regarding the privacy risks of employers' wellness programs. Writing in Is worker wellness a privacy issue? (5 June 2008), Sarasohn-Kahn summarizes the findings of a recent report: "Employees are concerned that this information could be used to reduce benefits or for even more egregious purposes". An overview of the findings, "Health and Wellness: the shift from managing illness to promoting health" is available from the Center for Studying Health System Change [PDF].

Law & Policy

Andrew W. Torrance of BioLaw: Law and the Life Sciences reflects on the sometimes presumed amoral status of patent law in U.S. – a status that is not presumed in Europe. In Patently Immoral Genes (2 June 2008), Torrance shares the recent, related work of the European Society of Human Genetics ("ESHG") which "has issued recommendations that would severely limit patents on genes in the European Patent Office (EPO) and member states of the EPC." According to Torrance, "the ESHG recommends that the EPO establish an 'ethics committee' to police the patentability of controversial technological innovations". He believes that this news may be of interest to policy makers in the States, including: California Democrat, Xavier Becerra, a sponsor of the "Genomic Research and Accessibility Act" (H.R.-977 – Thomas | GovTrack.us).

Nick Agar writes at What Sorts of People on a report by The Bioethics Council of New Zealand on the completion of its program Who gets born? Pre-birth testing. The report responds to the New Zealand government's decision to fund pre-implantation genetic diagnosis for couples with a high risk of conceiving a child with a genetic disorder. In NZ bioethics council (27 June 2008), Agar notes that "the emphasis is very much on facilitating parental choice, with health professionals given the role of supplying parents with the information they need to make choices consistent with their values". He observes that the Council made a deliberate effort to solicit participation from a wide range of "interested parties", but cautions that there may be "a bit of fallacy of bureaucratic representativeness here – if a committee’s composition approximately matches the representation of various communities in the general population then its pronouncements must be representative of the viewpoints of those different communities".

Personalized Medicine

Reflecting, in part, on the prevalence of "Personalize Medicine" in the recent 2008 BIO Convention, Jennifer Miller at Bioethics International defines the topic and introduces some of the ethical and legal issues. She identifies six ethical issues in Personalized medicine: an introduction, its promises and the ethics (26 June 2008):

(1) just access to, allocation and application of the new technologies, (2) privacy concerns, (3) respecting parties’ autonomy, (4) obtaining quality informed consents, (5) intellectual property rights, particularly in connection with bio-banking, (6) overall resource allocation and prioritization questions ….

Reviews

Bonnie Green, writing for BioethicsBytes (17 June 2008), reviews "An Adventure into Ourselves", the third episode of a four-part television series entitled DNA: The Human Race (Channel 4, 2003). [BioethicsBytes hosts and reviews resources for ethics education. The project aims "to assist in the teaching of bioethics, with particular emphasis on multimedia materials (film, TV, streamed media) as case studies".] Green's thorough review of "An Adventure into Ourselves" marks interesting quotations and highlights the social and political context of the Human Genome Project (HGP). She observes that the series and the episode form "an excellent basis for teaching both the science and bioethics of the HGP and large scale sociotechnical projects". The post also includes YouTube footage from related programming about the X-Prize.

Writing for Gene Expression, "Herrick" reviews Heredity and Hope: The Case for Genetic Screening, by Ruth Schwartz Cowan (Harvard University Press: 2008. 270 pp. $27.95, £18.95). This blogger points to three aspects of Cowan's book on genetic screening. In Heredity and Hope by Ruth Schwartz Cowan (11 June 2008), "Herrick" observes that Cowan distinguishes contemporary genetic medicine from mid-20th century eugenics by 1) showing that "genetic screening is a bottom-up social phenomenon, not a top-down mandate", 2) highlighting the "pro-natalist" aspects of contemporary genetic screening, and 3) sharing happy-ending stories about the proper use of this technology. In conclusion, "Herrick" observes:

Functionally, Cowan does the same thing for genetic screening that The New Republic did for tough-on-crime policies in the 80's and 90's: Cowan does some liberal hand-wringing while telling the reader that no, you're not becoming a Brownshirt if you agree to an amnio.

The BiDiL Debate: Can "race" serve as a proxy for groups with shared "genetic" characteristics?

2008-06-27T15:10:00.001-04:00

Following the debate surrounding the FDA's 2005 approval of BiDiL – a drug to be marketed to treat African-Americans at risk for heart failure – David e. Winickoff and Osagie K. Obasogie propose regulatory policy for future race-specific drug development. Writing in a letter published in Trends in Pharmacological Sciences [Race-specific drugs: regulatory trends and public policy. 2008 Jun;29(6):277-9. Epub 2008 Apr 29 | PMID: 18453000 - CiteULike (excerpt)], the authors argue: "race-specific indications should be rejected unless clinical trials can demonstrate convincingly that the drugs are both better than existing treatments for a specific group and no better than existing treatments for non-specified groups". They conclude that these enhanced regulations might help to reduce health disparities while protecting groups from market exploitation: "Race can be used as a proxy for the group most likely to benefit from a drug as long as the effect is not to deny others valid treatments". In other words, "Pharmaceutical science and biomedicine most certainly should not be colorblind. But they also must not be 'color-struck'".

Unlike one's genetic information, racial identity is a social-construct – so, using race as a proxy for individuals with common genetic characteristics is a messy and controversial process. In this case, would it make sense at all to say: genome-specific "indications should be rejected unless clinical trials can demonstrate convincingly that the drugs are both better than existing treatments for a specific group and no better than existing treatments for non-specified groups"?

Would such a standard be useful or does it merely re-state the obvious? – J.O.

Curating Your Personal Genome?

2008-06-23T12:34:00.002-04:00

When a member of the PGP-10 and an investor in 23andMe writes about curating one's online, personal data, a lot of people listen. Unfortunately, Esther Dyson (writing in MIT's Technology Review) does not mention the decision to share medical information or how she plans to curate her own genomic data online. Dyson rightly notes that "current website 'privacy' policies don't suffice. They're full of abstractions, euphemisms, and generalities, such as, 'We may, at any point in time, provide certain Specified Information to selected Marketing Partners ... .'" She appears to favor a complex, itemized consent policy, one that would allow users to opt in or out of sharing specific categories of information (user name, address, credit history, etc.) with a list of potential users (advertisers and other companies).

Imagine a similar consent for medical records sharing. For example, could someone like Esther consent to share her genome with a 23andMe social network, but not with researchers in this network? Or, perhaps, Esther could chose to share some of her genomic information, but not all of it. Then, again, maybe Esther would be willing to share her prescription history with an academic researcher, but not with pharmaceutical companies. The options could go on and on, resulting in an increasing complex array of choices.

Esther Dyson is obviously a very sophisticated information agent, but (as the opportunity to share medical information online increases) will the average user and patient be prepared to make informed decisions about the risks and benefits of participating? - J.O.

DNA Biobanks: The Five Minutes Between Nashville and Dundee

2008-06-17T16:17:00.003-04:00

Here at PredictER we're very interested in the attitudes of healthcare professionals regarding DNA biobanking. In fact, we recently collaborated in a study of attitudes at a local children's hospital. Thus, I was excited to read the results of similar survey research from Vanderbilt University School of Medicine. David A. Leiman, Nancy M. Lorenzi and some other bioinformatics folk in Nashville appear to have been working on this topic for a few years now - beginning with focus groups in 2000 and including a recent international, comparative survey. In "US and Scottish Health Professionals' Attitudes toward DNA Biobanking" [J Am Med Inform Assoc. 2008 May-Jun;15(3):357-62. Epub 2008 Feb 28. | PMID: 18308988], the authors compare the attitudes of healthcare professionals in Nashville with the attitudes of those in Dundee, Scotland. While they expected that the difference between a mostly private (U.S.) and a more socialized (U.K.) healthcare system would impact attitudes, they discovered that the attitudes were not that far apart. Presumably, the authors thought that U.S. health professionals would worry that genetic information might be misused by insurance companies in the private healthcare system and, thus, would be less likely to support biobanking. As it turns out the attitudes of the two survey groups were very similar. Of the fifteen questions in common, significant differences in attitude were found on only three questions. The Dundee professionals were slightly less supportive of creating a DNA biobank and (most importantly) were less comfortable with the idea that they might be asked to consent patients for DNA samples.

In the discussion of the results the authors speculate that time constraints in Scotland might be at the root of this slight difference in professionals' attitudes about "consenting" patients into participating in the biobank:

While many U.S. practices are expected to see patients 12-15 minutes, Scottish doctors are expected to perform the same visit in 7-10 minutes. The additional burden of consenting, or even explaining a biobank project, may be an overwhelming challenge to integrate into the existing workflow.

Those "extra" five minutes of time in which to meet a patient's needs in the U.S., therefore, might account for the greater support ("Strongly Agree" versus "Agree") for DNA biobanking. The authors also mention the difficult nature of obtaining consent for this research – without a complicated: "Traditional consent procedures require researchers to contact participants each time a new investigation is undertaken with the same existing information". Let's hope that the validity of the patient's consent isn't sacrificed to better accommodate the busy schedules of the healthcare professionals. - J.O.

GINA, The Good News: Engaging the Public

2008-06-07T15:12:00.001-04:00

This is the third post in a series of posts in which I share what I see as the ups and downs of the Genetic Information Nondiscrimination Act of 2008 (GINA or H.R. 493). In this post I address a potential positive:

A little discussed portion of GINA may be cause for celebration. Title II, Section 208, Subsection (b) of GINA calls for the establishment of the Genetic Nondiscrimination Study Commission after GINA has been enacted for six years. The purpose of the Commission is to evaluate the status of genetic science, genetic discrimination, public perception, and other factors, and to make recommendations to Congress regarding possible future legislation. Here, it would seem as though Congress has exercised a reasonable amount of foresight. Scientific knowledge is expanding at an amazing rate; faster than society and its laws can react, resulting in public fear and apprehension. Public fears are important and they must be listened to; public fears shouldn't always determine legislative action, but they cannot be brushed aside or ignored. In this case, Congress seemed to understand this dichotomy. They did the research. They listened to experts, and they acted. – Sam Beasley

ELSI After Francis Collins: What Now?

2008-06-05T18:39:00.002-04:00

In an editorial published today, "This time it's personal" (Nature 453, 697 (2008) | doi:10.1038/453697a ), Nature adds to the many comments on Francis Collins's announcement that he will step down from his 15 year position as head of the US National Human Genome Research Institute (NHGRI). Like most comments on Collins's career at NHGRI, the editorial praises the leader for his ambition, political acumen, and emphasis on the ethical implications of genomic research. In addition to leading the Institute to the successful sequencing of the genome in 2003, Collins helped to initiated the International HapMap Project, ENCODE, and the 1,000 Genomes Project. He also lobbied for the passage of GINA (H.R. 493) and was a constant advocate for the inclusion of public outreach and ethics education in genomic research.

Collins's emphasis on the ethical issues and the NHGRI's ELSI program laid the conceptual groundwork that informs much of the work we do here at PredictER. In fact, thanks to the support of The Richard M. Fairbanks Foundation, Inc, the Indiana University Center for Bioethics has been answering Collins's call to address the ethical implications of genetic and genomic research by focusing on both research ethics and medical ethics as the science is translated into current and future predictive health care.

The editorial also mentions some of the challenges that the next director of NHGRI will face. These challenges include a shrinking budget and waning political support:

Although Collins says he has no concrete plans … the future of NHGRI is more cloudy than his own. The funding situation of the NIH has been gloomy for years, with flat budgets stifling many potentially worthy projects. And with Collins gone, the NHGRI may become more of a target for politicians who feel it has run its course.

Of course, the challenges also include existing and unanticipated ethical and legal issues. As the Nature editorial notes: "Genomics is now at a point where the science and technology are moving much faster than society's ability to assimilate and make sense of the information".

One challenge that this editorial does not mention directly, but seems, nevertheless, to be implied by the shrinking public budget, is the fact that much predictive health research will be (and currently is) receiving commercial support. This should not be a surprise. If we want genomic research to result in better personalized medicine, we should expect that the life science industry will invest in the research. At the same time, however, there's no better moment than now to accelerate the investigation of the specific ethical issues of doing commercially supported genomic and predictive health research. For example, here are a few questions that jump to my mind:

Must a research biobank disclose to donors in the informed consent policy that research results may result in commercial products?

Must or should these biobanks share the income from tissue or data sales with donors?

Should pharmacogenomic companies and other patent holders be expected to share financial rewards with research participants or even with the communities to which these participants belong? - J.O.

The Best Predictive Health Ethics Blogs - May 2008

2008-05-31T11:06:00.007-04:00

It was a busy month for predictive health news: the president signed GINA, Francis Collins announced his eminent retirement, bloggers reported from important conferences at Case Western and Cold Spring Harbor, and Google announced the debut of Google Health. These events, and others, are reflected in this month's edition of the best blogs on the ethical issues of predictive health.

Are you diseased? Pre-diseased? Potentially diseased? Greg Dahlmann, blog.bioethics.net. 6 May 2008.
In this insightful post, Dahlmann examines how predictive health is changing our concept of disease. When, exactly, does increased risk = illness? Dahlmann writes:

So we're moving from the concept of disease as a state of impaired function to it representing particular sets of probabilities. In the past you were sick when you had a heart attack. Today, you're sick -- or pre-sick, perhaps -- when you have high cholesterol. What about when it's possible to identify constellations of genes that significantly increase your chances of having high cholesterol, or a heart attack. Would that be considered a disease?

Also see Dahlmann's follow up post on "previvors": Blood Matters. Greg Dahlmann, blog.bioethics.net. 11 May 2008.

NHGRI Director Francis Collins to Step Down on August 1. Hsien-Hsien Lei, Eye on DNA. 28 May 2008.
Lei shares the news the Francis Collins will retire from his post this summer and that Alan E. Guttmacher will become acting director. Lei also some thoughts on Collins' book The Language of God.

In All Fairness. Fred Trotter, Fred Trotter: My life and thoughts, often about FOSS in medicine. 23 May 2008.
Following the news coverage on the release of Google Health, Fred Trotter weighs in on the privacy questions. Trotter argues that Google is not a health care provider and is, therefore, not covered by HIPAA. He writes:

Both Google Health and HealthVault are designed to make the process of dissemination of your health information to people you want them to be disseminated to easier. Are they doing that in a secure, privacy respecting way? Excellent question; fodder for further posts. Should they be covered by the same laws that cover your healthcare providers? No.

Workman's Compensation, Stereotypes and GATTACA. Steve Murphy, Gene Sherpas: Personalized Medicine and You. 10 May 2008.
Murphy addresses a few of the potential social consequences of predictive medicine, by examining the following scenario:

Young person goes to 23andME/Navigenics/ETC (They just may add this immediately)....gets predictive testing indicating that he is at a 300 fold increased risk of herniating a disc in his back. Avoids manual labor (plays video games all day) never herniates the disc. Did we do society a service?

23andMe, deCODEme and Navigenics at Cold Spring Harbor. Daniel MacArthur, Genetic Future. 9 May 2008.
MacArthur reports, first hand, from the "Biology of Genomes" meeting at Cold Spring Harbor. In addition to the big players in the consumer genomics movement, the speakers at the event included some ethics and policy experts, like Kathy Hudson from Johns Hopkins. Hudson, MacArthur notes, "responded to the problem of patients being given data of very limited predictive value with a very sensible solution: 'In the absence of demonstrable harm, the default should be to provide the information.'"

Genetic testing ethics - consent forms becoming incomprehensible. Elaine Warburton, Genetics and Health. 7 May 2008.
Warburton covers the Translating ELSI, Ethical Legal Social Implications of Human Genetics Research conference at Case Western University in Cleveland. In this entry she reports on Laura Beskow's comments regarding informed consent and the attitudes and concerns of research participants. Also see Warburton's related coverage of pediatric research ethics discussions at the conference in her post: Genetic Ethics - testing and storing our kids’ DNA. Genetics and Health. 7 May 2008.

The FDA ditches the Declaration of Helsinki. Stuart Rennie, Global Bioethics Blog. 6 May 2008.
Stuart Rennie of Global Bioethics Blog examines the implications of the FDA's decision to abandon the Declaration of Helsinki. While Rennie focuses on the potential impact of this decision on US research overseas, and not specifically on predictive health research, this decision may have far reaching consequences on clinical trials of any sort. Rennie concludes with the following verdict: "the decision would seem to encourage pharmaceutical companies to cut ethical corners when working abroad".

GINA Series: Irrational Bureaucratic Risk Abhorrence [Page 1]. Andrew Yates, Think Gene. 24 May 2008.
This is the first post of a (thus far) four part series on GINA. Each post begins with the introduction:

Recently, President Bush signed GINA, the Genetic Information Nondiscrimination Act, into law. GINA makes it illegal for employers or health insurers to discriminate based on genetics. Virtually the entire genetics community has lauds this legislation, yet few have written why it's wrong that employers and services review objective facts to make decisions. … “It’s not fair…” but why?

The Puzzling Consensus in Favor of the Genetic Information Nondiscrimination Act. Eric Posner, The University of Chicago Law School Faculty Blog. 6 May 2008.
In what may be the most influential post covered in this edition of the best predictive health ethics blogs, Chicago Law professor Eric Posner examines the GINA and asks some compelling questions:

Should the insurance company be permitted to offer the cheap insurance policy only to people who obtain a doctor's certification that a genetic test shows that they belong to the low-risk group? If you think that insurers should be able to discriminate on the basis of visible markers and on the basis of simple doctors' tests for the presence of dangerous diseases, then you should think they should be able to discriminate on the basis of genetic tests. There is no morally relevant distinction between looking at a person's blood for the evidence of infection and looking at his DNA for evidence of susceptibility to a disease. ... The only explanation for the enthusiasm for GINA is that there is an inchoate feeling among people that there is something wrong with the way the insurance market operates.

Medical Genetics Is Not Eugenics. Gabriella Coleman ("biella"), What Sorts of People. 16 May 2008.
Coleman responds to Ruth Cowan’s article in The Chronicle of Higher Education, “Medical Genetics Is Not Eugenics”. Although Cowan sees little value in thinking about the similarities of modern medical genetics and the mid-century eugenics movement, Coleman cautions:

Even if, as [Cowan] rightly states that genetic testing is oriented primarily toward easing human suffering, genetic testing is still entangled with fraught ethical questions about what types of life we value, what is acceptable human life, and what is not—the very sorts of questions central to eugenics.

GINA, The Bad News: Adverse Selection

2008-05-29T13:54:00.001-04:00

This is the second post in a series of posts in which I share what I see as the ups and downs of the Genetic Information Nondiscrimination Act of 2008 (GINA or H.R. 493).

Although the legislation will hopefully do much to encourage research and protect predictive health patients, GINA is not all roses. The legislation has numerous critics who have good reasons to be critical. For starters, it sets the stage for adverse selection to occur in the health insurance industry.

Adverse selection happens when an information gap emerges between the beneficiary and the insurer; if the beneficiary knows much more than the insurer, then the insurer is unable to accurately assess the beneficiary’s risk. This information imbalance results in more claims being made than the insurer reasonably predicted. GINA facilitates this phenomenon by allowing beneficiaries access to genetic information, but denying it to insurers. If, for example, a beneficiary finds out from a genetic test that he has a significantly increased risk of developing prostate cancer, he would use that information in deciding whether or not to purchase insurance, but the insurer would be unaware of that increased risk in deciding in which group the individual should be placed, what rate he should be charged, etc.

This is potentially a big problem in the insurance industry, because insurers need to be able to accurately determine risk in order to prevent claims exceeding predicted levels. In the long run, inaccurate risk predictions in the industry will result in rate hikes, and rate hikes will drive healthier participants out of groups. In a the worst case scenario, this could start a downward spiral in the direction of group or insurer insolvency. - Sam Beasley

The Good News: GINA; The Bad News ... ?

2008-05-23T18:09:00.004-04:00

A few weeks ago, congress passed the Genetic Information Nondiscrimination Act of 2008 (GINA), a much anticipated piece of legislation, nearly thirteen years in the making. Since the first version of the bill prohibiting genetic discrimination was introduced in Congress in 1995, the legislation has received significant bipartisan support and support from both the Clinton and Bush White Houses. Until recently, however, even in the face of all of that support, just a few members of Congress were able to block the legislation's progress. An agreement has finally been reached, and GINA is now the law of the land; it was signed by President Bush on Wednesday, May 21st.

Regular readers of PredictER Blog know that we have been following GINA; now that it has been signed, it's time to kick the tires and to see what we've got. This is the first of a series of posts in which I share what I see as the ups and downs of this legislation. I'll alternate between the good news and the bad news and conclude with an overall "thumbs up" or "thumbs down". For this post, some good news:

GINA really is a big deal, in the legislative sense. It provides (at least in theory) significant protection from discrimination based upon genetic information in the employment and health insurance contexts. Studies by the NIH and other institutions have revealed that the vast majority of the American public is afraid of being discriminated against in these arenas and believes that it would be wrong for employers and insurers to do so. Furthermore, additional studies have revealed that a significant number of people who would be likely to benefit medically from genetic tests choose to forgo them for fear that they will lose their job, or health care coverage depending upon the results. Along the same lines, many people are choosing not to participate in important research that requires subjects to undergo genetic testing out of fear of discrimination. Clearly, then, GINA should help to allay public apprehensions and to encourage both the pace of research and the practice of personalized medicine.

But … stay tuned for the "bad news". – Sam Beasley

Retirement and Risk: Betting on Your Genes?

2008-05-21T12:44:00.002-04:00

Jane Sarasohn-Kahn of Health Populi points to an interesting report from the Society of Actuaries. In a survey of Americans age 45 to 80 both pre-retirees and current retirees are most concerned about the cost of health care in retirement. Pre-retirees worry about paying for "adequate care" and current retirees worry about paying for "long-term care". (These do not seem like mutually exclusive categories to me, but maybe I need to re-read the document: Understanding and Managing the Risks of Retirement: 2007 Risks and Process of Retirement Survey Report.) From a predictive health perspective, I wonder how personalized genetic information might change the risk perceptions and behaviors of those making retirement plans. Would, for example, a pre-retiring employee opt to work longer after acquiring a genetic test indicating an increased risk for a specific kind of cancer? If such a pre-retiree also learned that the peek incidence for almost all cancers is in late middle age and tapers off after about 70 years of age, they might work an extra decade just to be more certain that cancer wasn't "in the cards". On the other hand, would current retirees with genetic information that suggested a long (if not painless) lifespan purchase more aggressive insurance for long-term care? - J.O.

Dr Watson's Genetic Counselor: Witty or Insulting?

2008-05-14T17:35:00.004-04:00

Today's issue of Nature [subscription required] includes a letter responding to Wheeler DA, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 452, 872-876 (17 April 2008) | doi:10.1038/nature06884. The author of the response, a genetic counselor, lifts a layer off the science publishing hype that surrounds anything about the human genome in this era. Also see the very insightful and witty table comparing two potential personal genome and genetic counseling clients: "Dr. Watson" and a "lay patient".

Here's a sample:

- Dr. Watson: Thinks the $1 million cost is a good deal - Lay Patient: Worried about the cost of a - consultation
- Dr. Watson: Brings in sequence data on a hard drive - Lay Patient: Brings in records about sinus infections
- Dr. Watson: Chose to have Apo-E sequence redacted - Lay Patient: Expects to learn blood type
- Dr. Watson: Shares 1.68 million SNPs with Craig Venter - Lay Patient: Googles SNPs to find out who they are

Well said! But gee, the "lay patient" must be a real dimwit ... if I ever need a genetic counselor, I'm going to do my homework first! - J.O.

Source: Roche MI. A case of genetic counselling for Dr Watson. Nature 453, 281 (15 May 2008) | doi:10.1038/453281a; Published online 14 May 2008.

Resource Recommendation: NIH Points to Consider - GWAS and IRBs

2008-05-12T14:29:00.005-04:00

Genome-Wide Association Studies (GWAS): NIH Points to Consider for IRBs and Institutions in their Review of Data Submission Plans for Institutional Certifications Under NIH's Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide Association Studies (GWAS) 12 November 2007. Accessed 12 May 2008 from: http://grants.nih.gov/grants/gwas/gwas_ptc.pdf

These guidelines go beyond the regulatory requirements of 45 CFR part 46 as outlined by the OHRP's 2004 policy guidance regarding privacy and biobanks (see NOT-OD-05-020 and http://www.hhs.gov/ohrp/humansubjects/guidance/cdebiol.pdf). In addition to addressing the NIH's recent emphasis on open-access publication in the context of genomic research, this document provides a de facto outline of the many consent, privacy, and disclosure issues in biobank research. Although it is a must read for anyone conducting or reviewing NIH supported GWAS research, it is also an excellent resource to skim when thinking about the ethical issues and risks of benefit sharing and biobank research.

Translating ELSI – From a Conference at Case Western to the World

2008-05-08T10:14:00.002-04:00

An exciting conference occurred last week in Cleveland, Ohio on the past, present, and future of research into the ethical, legal, and social implications genetics (so-called "ELSI" research). If the large number of interesting presentations at this conference is any indication, the field is flourishing. Although I saw relatively few presentations (I was only there for part of the conference), the discussions, the turnout, and the book of abstracts show the rigor and creative energy of a thriving, international group of scholars.

As part of a panel on Saturday morning (May 3rd), I presented a short talk entitled "PredictER: Indiana University's Experience in Translating Predictive Health Ethics Research into Practice". The presentation covered the work that we've been doing at the IU Center for Bioethics on the ethical and legal aspects of predictive health research. Other speakers in the same session described similar work under way in Kyoto, Japan and in Newfoundland, Canada. Genetics is truly a global field, and, thus, so is the project of examining the ethical, legal and social implications of the science and medicine. If we want to insure the ethical practice of genetic science and the equitable sharing of its benefits, the global participation exemplified by the work at this conference, must become a common feature in the investigation of the ELSI of predictive health research. – Peter H. Schwartz

One Year of PredictER Blog

2008-05-07T13:14:00.001-04:00

PredictER Blog turns one today! To mark the date, here is a list of the 10 most popular posts:

1. HIPSA: The Health Information Privacy and Security Act of 2007 - Thursday, July 19, 2007

2. Texas: Your Boss, Your Medical Records and the Information Economy - Saturday, March 22, 2008

3. Get Your Genetic Test Results Online and Who Needs a Physician? – Katherine Drabiak, Thursday, November 15, 2007

4. Predictive Health Legislative Update: GINA, HIPSA and more ... - Monday, December 17, 2007

5. Smith-Lemli-Opitz Syndrome and a Florida “Wrongful Birth” Case - Wednesday, July 25, 2007

6. Biomedical Research Ethics 2.0: MySpace and Pediatrics - Tuesday, January 8, 2008

7. Minnesota and Genetic Privacy: Why the Rule of Law is Good for Research – Katherine Drabiak, Wednesday, September 26, 2007

8. Navigenics Enters Personal Genomics Game ... Meanwhile: "What's a SNP?" – Katie Carr, Wednesday, April 16, 2008

9. Health Risk Assessments in the Workplace: Clarian Health, Indianapolis. - Sunday, August 19, 2007

10. Newborn Screening: An Update on Minnesota – Katherine Drabiak, Friday, November 16, 2007

Predictive Health: Best Ethics Blogs - April, 2008

2008-04-30T18:44:00.006-04:00

This issue of the "best" predictive health ethics blogs includes entries on education, eugenics, genetic counseling, genetic testing, personal genomes and privacy.

Education

More on the need for science education. Sue Trinidad, Women's Bioethics Blog. 11 April 2008.
How will tomorrow's voters make informed decisions about the predictive health research and medicine. Sue Trinidad looks at the results of a recent evaluation (see: PMID: 18245328) of submissions to the DNA Day essay contest for high school students; the forecast is not good. After reading comments like:

Genetics create a perfect being. Change the genes. Make that child perfect. There's no better solution to an impending health care crisis. … What we can have is a sea of people who all look brilliant, who are all smart and who all have perfect eyes, nose and lips. It's a perfect society, what more could we want?

Trinidad calls for improved K-12 science education:

[T]hese are the responses of students who were willing to participate in an essay contest about genetics. What must be the level of understanding among those who wouldn't bother? Clearly, CLEARLY, we need to do a better job of K-12 science education.

Eugenics?

Genetic DisEnhancement -- Does reproductive autonomy extend to choosing a disability? Linda MacDonald Glenn, Women's Bioethics Blog. 13 April 2008.
Following the recent news from the UK that the government will remove references to deafness from the proposed Human Fertilisation and Embryology Bill, a decision that will permit couples to use preimplantation genetic diagnosis to select a child with congenital deafness, Glenn questions the broader implications of the decision:

My concern about removing the clause banning the creation of disabled children entirely, is why stop at deafness? Aren't the primary purposes of medicine to heal, to cure diseases, restore, and alleviate suffering? … So the question is how far does reproductive autonomy go? Nobody wants to see a fellow human being struggle or suffer, especially in the name of 'reproductive autonomy.'

Whose Normality? D. Joy Riley, bioethics.com. 17 April 2008.
After reading that a economically disadvantaged couple in India accepted a child with Craniofacial Duplication as potentially a reincarnated deity, Riley wonders about Western notions of "normal" in the context of prenatal genetic diagnosis. Riley is alarmed by the concept that prenatal screening for Huntington's Disease "could eliminate this entire population!" The author asks:

Who defines ‘normal’? Is normal equal to “without disease or abnormality”? If so, when? Is normal to be born without disease, or to be born with no disease or disorder present at birth, AND no genes for known disorders that will develop later in life, like breast cancer, familial polyposis of the colon, or Huntington’s Disease?

Genetic Counseling

Now this is why we need genetic counselors. SciPhu. 25 April 2008.
After writing (in an earlier post) that reliable predictive testing may render the job the genetic counselor obsolete, the author of SciPhu reads a paper by lead author Kimberly Quaid (a PredictER team member). SciPhu calls the experience "eye-opening". When it comes to "high risk tests", such as a test for Huntington's Disease, SciPhu concludes:

The final take home message must be that not testing for a condition has significant value, especially when treatment options are scarce or non-existent. … Hope is sometimes a life saver. Knowledge on the other hand, can put peoples lives in ruins.

Genetic Testing

Over-regulation. Steve Murphy, Gene Sherpas: Personalized Medicine and You. 8 April 2008.
In this "follow-the-money" assessment of genomic medicine, Murphy points to the disproportionate influence of the business sector: "Genomic Medicine is being driven by business. Why? Because academia has failed to take the bull by the horns. Why? They are comfortable in their own realm. This is a stretch for them." In Murphy's view, while business sees potential money in testing, less emphasis is placed on genetic counseling and other genetic services. In the long run, however, this lop-sided approach may hurt the life sciences industry. Murphy cautions that the direct-to-consumer genetic testing push may be annoying all the wrong people—some of the big names on the beltway: "AMA, ACP, SACGHS, FDA, CMS, GAO, US Senate, Department of HHS, FTC, ACMG, NHGRI..." In other words, "over regulation" may be on the way.

The gap is widening on genetic testing, too. Ricki Lewis, blog.bioethics.net. 14 April 2008.
Following a post on the widening gap between public perceptions and the reality of the current state of the art in stem cell science, Ricki Lewis writes on a similar gap in the genetic testing industry. Lewis warns that whole-genome association tests may not be ready for the consumer market:

The truth is, and the direct-to-consumer company websites actually say so in the fine print ... Consumers may not be aware of these limitations, nor realize that “link,” “marker,” and “association,” have precise scientific meanings.

After reciting the disclaimers, Lewis doubts the services provided by 23andMe, Navigenics, and deCODEme are legitimately non-medical and asserts:

It isn’t ethical to market DNA tests based on whole genome population-based studies without randomized, controlled clinical trials, replication, and validation. ... Whether considering stem cells or DNA tests, that’s simply the way that good medical science is done.

The Ethics of Genetic Testing. William Martin, Free and Wandering Thought. 18 April 2008.
After reporting his less than stellar performance on a recent "biopsych test", Martin shares a few free thoughts on the ethics of genetic testing for diseases like Huntington's and Bipolar disorder. Martin worries about where our society will draw the lines for the appropriate use of genetic information. Like many, he anticipates that trouble in the insurance industry and asks:
"What happens when insurance companies find out you are XX% likely to develop a disease?"

With this in mind, Martin applauds Paul Wellstone's drafted "Mental Health and Addiction Equity Act", which, as Martin reports, might have some impact on how insurance companies will (or will not) use genetic information to determine coverage for mental health disorders.

Personal Genomes and the Bioscience Industry

The Personal Genome discussion. Sandra Porter, Discovering Biology in a Digital World. 24 April 2008.
Porter provides a summary of panel discussion at the University of Washington. At the event Bill Gates, Eric Lander, Maynard Olson, Leena Peltonen, and George Church fielded questions from the audience about the personal genomics revolution. Porter summarizes responses to some really interesting questions, including:

Should people be given information about genes that are related to diseases if there's nothing that can be done?
What are options for the personal genome to benefit third world populations?
How will personal genomics affect privacy?
Are we going to make designer babies?

Also see Deepak Singh's thoughts on the discussion at bbgm.

Personal Genomics Takes a Bashing on Physician Oversight, Financial Backing, and Privacy. Hsien-Hsien Lei, Eye on DNA. 21 April 2008.
Lei reviews the "snarky" news coverage of the consumer genomics industry published in Forbes and BusinessWeek. While Forbes reports that New York's State Department of Health has sent threatening letters to some direct-to-consumer genetic testing companies ("jail-time"!), BusinessWeek focuses on Google's role in supporting the industry. Lei concludes: "If anyone ever organizes a biosciences startup school, they need to put regulatory affairs, investment choices, and privacy concerns on the syllabus!"

Privacy

A new model for genetic privacy: you don't have any. Daniel MacArthur, Genetic Future. 20 April 2008.
After perusing a perspective piece in Nature Reviews Genetics, MacArthur notes that the authors call for a paradigm shift in the approach to research subject privacy, he comments: "Essentially, they argue that 'the reality of the new genetics and genomics urges us to abandon the traditional concept of medical confidentiality …'." In MacArthur's assessment, the authors:

[A]rgue for a strategy of "maximizing data protection while informing people about its limits". In other words, doing your best to limit disclosure of individual health data, while clearly informing participants of the fact that their privacy can't be guaranteed.

Although he sees the value to the science and acknowledges the risk to privacy, MacArthur wonders how these changes might influence the future of human subjects research:

[W]ill such a policy discourage people with a clear family history of genetic disease from participating in large-scale cohort studies (for insurance reasons), thus reducing the power of such studies to detect disease-associated variants? Will it create a generation gap in research participation, with conservative older people shunning studies while the children of the Facebook era - who engage in public disclosure of information with a willfulness that seems shocking to their elders - embrace participation?

Biobanks for Breakfast

2008-04-28T16:30:00.003-04:00

On April 25, 2008, a collection of community leaders, top medical researchers, and statewide biotech industry leaders met to discuss the bioethical and legal issues surrounding biobanks in Indiana. Biobanks are a growing resource in biotech research. They contain samples of human biological specimens and are often linked in varying degrees to the personal health and demographic information of the donor. Biobanks range from the very small disease specific collections of tissue to the very large national sponsored banks of several million specimens incorporating several different types of biological material from persons both healthy and with known disease. Ownership and commercial involvement are among the most difficult ethical issues in developing successful biobanks. The Bioethics for Breakfast group considered these issues along with Indiana’s role in future biobanking by asking attendees to think about the following questions:

- Are you willing to donate your DNA to a biobank for medical research?
- Are you comfortable allowing Indiana companies to profit by developing commercial products from your samples and donations?

Guest speakers at the event included:

David Flockhart, M.D., Ph.D. , Chief of the Division of Clinical Pharmacology at the Indiana University School of Medicine – Dr. Flockhart outlined the national and international status of biobanks.

Mervin C. Yoder, Jr., M.D., Richard and Pauline Klingler Professor: Department of Pediatrics, Indiana University School of Medicine – Dr. Yoder discussed the therapeutic use of biobank samples.

Andrew R. Klein, J.D., Paul E. Beam Professor of Law, Indiana University School of Law - Indianapolis – Prof. Klein led the group in discussion of the difficult ethical and legal issues.

The Bioethics for Breakfast series is co-sponsored by the Indiana University Center for Bioethics and the law firm of Sommer Barnard. – Patrick Barrett

Disclosing Risk: Good Communication or "Doctor-Knows-Best"?

2008-04-25T16:53:00.003-04:00

A newly published paper from PredictER's Peter H. Schwartz and Eric M. Meslin, examines the challenges of balancing beneficence and the respect for autonomy in preventive and predictive medicine. In "The ethics of information: absolute risk reduction and patient understanding of screening" (J Gen Intern Med. 2008 Apr 18; [Epub ahead of print] | PMID: 18421509) the authors question whether providing absolute probabilities of risk based, for example, on genetic screening for breast cancer, is always in the best interest of the patient's health. While many argue the respect for the patient's autonomy demands that risk is communicated numerically or graphically, Schwartz and Meslin argue that the disclosures should be made "in the light of careful consideration of patient understanding and possible impacts on uptake and well-being".

Red Herrings and Sexy Science

2008-04-24T12:51:00.002-04:00

Anyone feeling a bit overwhelmed by the frequency of news stories reporting new targets for personalized and predictive medicine, will grab some moral support from a recent article in The Washington Post. In "Science Is Leading Us to More Answers, but It's Also Misleading Us" (22 April 2008; HE08) David A. Shaywitz examines the ups and downs of the new biology. In contemporary genetic medical research the paradigm has shifted from investigating "a few favorite genes" to surveying "thousands of initial candidates" and browsing for "important players and pivotal networks". In Shaywitz's view, this has resulted in a lot of noise – sexy science headlines pointing to journals "littered with studies reporting 'disease genes' or 'molecular signatures' that are likely red herrings". This is exasperated by the fact that journals "have little appetite for negative results" and "erroneous results are almost never retracted". To address the hype in genetics, Shaywitz recommends better, more rigorous statistical analysis on the research front and increased caution and scrutiny by information providers and consumers.

One can hardly disagree with a call for better research methods, smarter journalism, and better reading habits, but where does that leave services like PredictER Blog and PredictER News Brief? Here at PredictER we are committed to investigating and addressing the attitudes and concerns of our communities – including: researchers, physicians, legislators and patients. Undoubtedly, some members of these communities will form opinions and pursue projects that leave them fishing for the sexy red herrings of genetic science. Others will develop policies and regulations based on the latest, suspect catch. Knowing this, I'm trying to keep up with the hype. I try to monitor the information, both to identify quality sources, but also to help our investigators assess the impact of the hype. Although the news headlines may not reflect the best science, they do have the potential to influence the public's willingness to participate in and support new medical research. Therefore, we're doing our best to engage the community, even if this means beginning the discussion with the latest hot topics and sexy headlines.

Navigenics Enters Personal Genomics Game ... Meanwhile: "What's a SNP?"

2008-04-16T17:40:00.003-04:00

On April 8th, Navigenics announced it will provide genomic testing services to the general public, yet, creating additional competition among other genetic health startup companies such as deCODEme and 23andMe. These businesses are drawing attention by allowing ordinary people to see their genetic makeup and by providing services to help understand their risk for common conditions.

For an initial fee of $2500, Navigenics’ personalized medicine package includes genotyping for 18 listed medical conditions such as Alzheimer’s disease, glaucoma, colon cancer, lupus, breast cancer, prostate cancer, and Crohn’s disease. Saliva, instead of blood, is collected for the genome scan as a less invasive and less hazardous approach. Within three weeks, Navigenics promises to deliver your risk assessment report electronically and provides genetic counseling over the telephone to educate customers on their genetic predispositions and to encourage them to take preventive measures.

The personal genomics industry is growing and potential consumers have choices. For example, 23andMe lets customers see their entire genetic profile of more than 500,000 single nucleotide polymorphisms (SNPs) while Navigenics limits customers to 18 selected conditions, even though it uses a 1 million SNP chip. On the other hand, Navigenics promises the customer access to future technology for an annual fee of $250. Customers’ spit samples are frozen, stored, and re-tested as new associations with SNPs are found.

Hoping to set industry standards, Navigenics proposed 10 criteria for performance, quality, and service for personal genomic services:

1. Validity
2. Accuracy and quality
3. Clinical relevance
4. Actionability
5. Access to genetic counseling
6. Security and Privacy
7. Ownership of genetic information
8. Physician education and engagement
9. Transparency
10. Measurement

With the evolution of personalized medicine and genetic profiling, consumers have more information in their hands. New research initiatives are on the move to understand how consumers act upon this information (i.e. ignore health risks or needlessly worry about slight risks). Navigenics has plans to support future health outcome studies and has recently joined forces with the Mayo Clinic to measure the impact genetic information has on behaviors.

It will be interesting to see whether The Personalized Medicine Coalition adopts or modifies Navigenics standards. Also interesting will be the response from the medical community to risk assessment reports generated by personal genomic businesses such as Navigenics, 23andMe, and deCODEme.

What could be better than knowing your own DNA? This genomic revolution sounds almost too good to be true. Dr. Eric Topol, cardiologist at the Scripps Clinic (ironically a collaborator with Navigenics), listed his comments (December 2007) in an editorial for The Wall Street Journal. Topol presumes it is too soon to tell whether having your genome scanned can be good for your health because there are so many unidentified genes associated with disease risk. He also wonders, as do I, how personal genomics will impact the medical community. His example . . . "When a consumer arrives in his or her doctor’s office to get help in interpreting the genomic data, the doctor is likely to respond: What’s a SNP?" – Katie Carr

[Katie Carr is a graduate student in public health at Indiana University-Purdue University, Indianapolis (IUPUI). In addition to taking classes in bioethics at the IU Center for Bioethics, Katie is working with us to develop an ethical plan for pandemic influenza response.]

Purdue Bioethics: Ethical Issues in Constructing and Using Biobanks

2008-04-15T13:27:00.004-04:00

PredictER's Eric M. Meslin, PhD, Director, IU Center for Bioethics, will address the Purdue Bioethics lecture series this Wednesday, April 16th, from 6 to 7 pm. Meslin will provide an overview of the ethical issues in developing and using biobanks for genetic research. The Purdue lecture series (now in its second year) intends "to build opportunities for engagement between philosophy, policy, and science at a campus-wide level and to raise awareness of the ethical implications of biotechnological development for our environment both local and global". The current year's series focuses "on two central themes in bioethics: the ethical issues of climate change and those of issues in medical technologies". Read more about Meslin's lecture or to learn more about the series contact Jonathan Beever or Nicolae Morar at Purdue Bioethcs. Also see the international blog, BlogEthics Purdue.

Gene Sherpas for CME

2008-04-10T10:12:00.003-04:00

Steve Murphy at Gene Sherpas: Personalized Medicine and You has often asserted that physicians will need continuing medical education to understand the latest advances in genetic research and to interpret clinical genetic information. In a recent post, however, he provides a few hints about what he will be doing to make these educational opportunities a reality. Murphy writes:

There is a new hope. An institution being set up by myself and others. We are currently looking for donors and we endeavor to set up educational events and group sessions. We will work with Corporate Genomics, Academic Genetics, Corporate Labs, Academic Medicine to develop training workshops. Interested?

Well Steve, I'm interested (obviously), PredictER has been working on continuing medical education programs for physicians with patients participating in genetic research. We have made plans to offer two initial programs in local clinics here in Indianapolis this summer—we hope to stream these programs to a wider audience as well. While this is one step removed from the clinical use of consumer genomics (we're really focusing on research ethics in the clinic), I hope that our work on the ethical issues of genetic medicine will be of use to your hoped for institution. At the very least, don't forget the ethicists and community advocates when designing your curriculum. Good luck finding donors and keep us posted! – J.O.

Racing for the Biobank

2008-04-07T22:08:00.001-04:00

Here in Indianapolis the city is preparing for one of the biggest annual gathering of runners in the region. On April 19th thousands of runners and walkers will converge on the Indiana University-Purdue University, Indianapolis (IUPUI) campus for the The 2008 Komen Indianapolis Race for the Cure. While there will be plenty of people milling around after the 5k race and walk, many of the participants will also donate DNA and blood to a predictive health research study. The Susan G. Komen for the Cure Tissue Bank at the IU Simon Cancer Center will collect blood samples for the biobank from both women with and without a high risk for breast cancer. In a press release from the Indiana University School of Medicine, Dr. Susan Clare, a co-principal investigator of the tissue bank, notes that:

Collecting blood from women who have not had breast cancer provides an opportunity for these donors to give a unique gift to science …. Even though these donors will not benefit directly from their donation of blood, they are providing an invaluable resource to enable research that will benefit generations to come.

The upbeat tone in this quotation is nurtured by more than a keen eye for good public relations—past tissue bank drives at the race have been a wild success. So, is this a good way to build a predictive health biobank? Would similar outreach methods work for other diseases? How about a 5k race to cure for diabetes or schizophrenia? Would runners turn out in equal numbers? Would participants be as willing to donate after the race? Undoubtedly the organizers of this tissue bank and the Komen Race for the Cure have done an excellent job of advocating for this research, but is there something about breast cancer or about our culture that might (perhaps disproportionately) encourage potential research participants to join the cause?

Weighing Hope: Living at Risk for Huntington Disease

2008-04-02T13:57:00.003-04:00

If you had a parent with Huntington Disease, you would have a 50:50 chance of also having the disease. That's a very high risk - flip a coin - for a disease that has no cure. To make matters worse, the risk itself could strain relationships, lead to social stigmatization and even discrimination. So, if you were at risk for the disease, but had thus far declined a diagnostic, genetic test, would you tell your co-workers, friends and family members about your risks?

Before assuming that you would share news of this risk with all the important people in your life, you might want to read a recent publication by lead author Kimberly A. Quaid, a PredictER team member. In "Living at risk: concealing risk and preserving hope in Huntington Disease" (Quaid KA, Sims SL, Swenson MM, et al. J Genet Couns. 2008 Feb;17(1):117-28. Epub 2007 Oct 18. PMID: 17943424), Quaid et al report the results of open-ended, qualitative interviews of 55 individuals at risk for the disease. Although research on the psycho-social impact of living with the knowledge of genetic risk for Huntington Disease often focuses on the decision of whether or not to be tested and/or whether or not to share the test result, this paper is unique in that it examines: 1) the decisions of those who have not received a genetic test and 2) the ongoing, daily decisions to both disclose and conceal this risk information. After reviewing the unstructured interviews, the authors conclude that some people chose to conceal their risks for many valid reasons, including: to protect themselves from discrimination, to identify the best circumstances in which to share the information with loved ones (especially young children) and to preserve personal hope that they will not succumb to the disease. Quaid et al also remind us that: "Choosing to be tested is, in a way, a decision to disclose one's real risk to oneself. Participants' choosing not to be tested is not denial but a positive way to preserve both hope and their identities as people with a future". The authors encourage clinicians to respect a patient's desire not to be tested. For some patients a genetic test for an incurable disease will not provide helpful information; in fact, for some, the "knowledge … of HD may serve to destroy hope".

Best Predictive Health Ethics Blogs - March, 2008

2008-03-31T22:21:00.003-04:00

See February and January 2008 for prior reviews of the best predictive health ethics blogs. I have limited this month's installment to the ten posts. If, after reading these, you believe I've omitted a good post, please let me know. This month's blogs (listed chronologically) include some familiar names and a couple of new ones, including: Adventures in Ethics and Science, Synthesis, and Genetics & Health.

CF "success" story. Steve Murphy, Gene Sherpas. 1 March 2008.
Steve Murphy of Gene Sherpas seldom shies away from an ethical issue. Thus, when the NEJM reported the good news that "The number of infants born with cystic fibrosis in Massachusetts decreased by 50% from one four-year period to the next" (MedPage Today, 28 February 2008). Murphy acknowledged the upside, "children born with CF in the future may actually have less significant disease and may need to have less aggressive or less early interventions". He reminds us, however, that some doctors and patients now face heavy decisions:

The number of infants born with cystic fibrosis in Massachusetts decreased by 50% from one four-year period to the next according to this letter in the NEJM. They attribute this to the Newborn screening available in Massachusetts since 1999. … But here's what they don't say.....Preconception screening for this disease is important, but a highly personal choice. ... despite what the ACMG and ACOG say. There are some children who are doing just fine with CF. As for adults with CF like the 74 year old patient who I diagnosed a few years ago, I am certain they would not want to have never been born.

Should Researchers Share Data? Janet D. Stemwedel, Adventures in Ethics and Science. 3 March 2008.
Janet Stemwedel of Adventures in Ethics and Science comments on the widely discussed Andrew Vickers essay in The New York Times – "Cancer Data? Sorry, Can’t Have It" (22 January 2008). Stemwedel does an excellent job of highlighting the importance of data sharing for the success of translational research. She also acknowledges the research subject's contribution to this research and the exposure to risk that they have assumed. Stemwedel writes:

[R]isk is supposed to be offset by the benefits of the knowledge gained from the research. If that data sits unanalyzed, the benefits of the research are decreased and the risks undertaken by the human subjects are harder to justify. Moreover, to the extent that sitting on data instead of sharing it requires other researchers to go out and get more data of their own, this means that more human subjects are exposed to risk than might be necessary to answer the scientific questions posed in the research.

How Private is Private? Is Google a covered entity? Cheryl Lew, Women's Bioethics Blog. 4 March 2008.
After observing that HIPAA was not written with Google's emerging patient managed, personal health records in mind, Cheryl Lew of Women's Bioethics Blog wonders if additional government protections might be required. Lew writes:

[W]ill Google patients be subject to advertising spam or other intrusive advertisement adduced from their prescription lists? What guarantees that the “client” (read patient lists) won’t be sold to Pharma companies as yet another means of developing data bases about physician prescribing patterns? Who is going to regulate these issues? Google is a great search engine—I use it all the time! But I’m not sure I want to use it to manage my healthcare information.

Genomes of the Rich and Famous. Jesse Reynolds, Biopolitical Times. 5 March 2008.
Reacting, in part, to "Gene Map Becomes a Luxury Item" (Amy Harmon, The New York Times. 4 March 2008), Reynolds was the only blogger that I know about that picked up on the irony in drive towards celebrity genomics. Reynolds observes:

The prospect of biotechnology companies capitalizing on genetic information in order to develop profitable products without properly compensating the studied populations brings to mind biocolonialism, in which politically and economically vulnerable indigenous groups are exploited. But a growing convergence of genomics and information technology may lead, ironically, to the genetic "exploitation" of society's most elite.

The moral manipulation of Gattaca. Daniel MacArthur, Genetic Future. 6 March 2008.
Daniel MacArthur of Genetic Future is becoming a regular here in the "best ethics blogs" series. This month MacArthur introduces (with help from Black Belt Bayesian) us to an essay on one of the favorite films for bioethics classrooms—Gattaca:

A man is given strong medical evidence that he will die from a heart attack if exposed to the exertions of space travel, thus risking how own life and the lives of his crewmates. Ignoring this evidence, he fakes his way into astronaut training - and inexplicably, we cheer him on. How did the makers of Gattaca steer us towards this bizarre response?

The full essay, by Neven Sesardic and forthcoming in The Routledge Companion to Philosophy and Cinema, 2008, is available online: Gattaca (PDF – 209 KB).

Genetic testing - ‘recreational genomics’ or the future of diagnostics? Elaine Warburton, Genetics & Health. 18 March 2008.
Reacting to editorials in The New England Journal of Medicine and The British Medical Journal, Elaine Warburton of Genetics & Health acknowledges the limitations of the current methodologies, but notes that "introducing innovative genetic testing technology has to start somewhere". Warburton observes that 23andMe and other genomics companies are taking "huge financial and clinical risk[s] in bringing these tests to market". Warburton sees the uncertainty involved as merely a part of the ongoing cycle of research and development:

The tests are in their infancy and each of these companies are transparent in advising their customers of this fact. That said, massive scientific research continues to take place to build on the knowledge base of these tests, so that they may be refined. This process will never end.

Also see Warburton's related post: Ethical guidelines for whole genome studies. 26 March 2008.

The G.I.N.A. could be a bad thing for healthcare. William Gunn, Synthesis. 20 March 2008.
William Gunn of Synthesis was one of the few, perhaps the only, blogger brave enough to buck the current dogma on value of GINA. After reading Marcelino Fuentes's letter in Nature, "How genetic censorship would harm everyone" (PMID:18354455), Gunn agrees, but notes that: "This is all jumping the gun a little" (I hope that's not a pun) "because actual rock-solid, high-confidence correlations between a genetic feature and a disease are still rather rare, but one thing’s for sure: The better you see what’s ahead, the better you can plan for it (whether a insurance company or an individual), and having a good plan leads to better outcomes for everyone". Gunn, however, does not have a problem with acknowledging the potential inequities: "Everyone’s worried about enabling social injustice, but it can’t really be said that our current insurance system in which many are so under-served is really all that great to begin with, so let that temper your thoughts, as well".

So, what do you think? Are Fuentes and Gunn right?

Your personal health: Crowdsourcing healthcare - Pitfalls and possibilities. Deepak Singh, bbgm. 25 March 2008.
Although Deepak Singh writes more often about technology, his comments on the progress of personalized medicine and the feasibility of predictive health are usually thought provoking. In this post Deepak reacts to the many consumer privacy concerns and asserts a firm position on data ownership:

Whether it be personal genetics, or social health, our efforts must focus on consumer education, consumer privacy and perhaps most of all data ownership. Who owns the data? That is the most important question. As has been said before in these parts, we essentially need some sort of license for personal health information that establishes ownership with the person whom the data belongs to, i.e. you or I and who has access and under what circumstances. That’s where education comes in. We need access to a lot of patient information and genetic profiles for personalized medicine to be successful.

Well said, Deepak, but do you also think that patient control and "ownership" of data will improve the pace medical research?

Bringing the genome home ... but why? Sue Trinidad, Women's Bioethics Blog. March 26, 2008,
Sue Trinidad, also a regular here in the "best ethics" series, reflects on the need for oversight in the future of genetic and personalized medicine. Trinidad responds to "Genetic Testing Gets Personal" (Rick Weiss, The Washington Post. 25 March 2008.), which profiles the consumer genetics movement and the companies, like 23andMe and Knome, that are fueling it. Trinidad cautions:

Here's a fact about all these businesses: not a one of them is subject to FDA oversight. So all these claims about health benefits, etc., resulting from their services can be completely false (or at least, not based on evidence), and nothing can be done about it. If you read even a *tiny* bit of the scientific literature on genetics and "personalized medicine," you will be struck by how few experts make such claims, at least for the near term … In the meantime, though, consumers should be protected from grossly overstated or unproven claims. Whether that falls to FDA or to someone else (though the Consumer Protection Agency probably has enough work to do at the moment -- lead paint in toys, anyone?), it seems to me the Feds ought to step up on this one.

Will information on risk genes actually change behaviour? Doug MacArthur, Genetic Future. 31 March 2008.
In this second post form Genetic Future in this edition of the "best predictive health blogs", MacArthur reflects on a recent news article in Science (PMID:18369117). The article and MacArthur are among the few that have bothered to acknowledge what may be the true downfall of predictive, personalized medicine—the patient. To some extent everyone (with or without genetic information) knows and ignores health risks. MacArthur acknowledges this and observes:

[I]f it turns out that genetic information doesn't reduce risk behaviour in the real world, then the impact on public health of the hundreds of millions of dollars spent on complex disease genetics may actually be very small. I'm hopeful that this won't be the case - but it would be nice to have some actual evidence one way or the other....

- J.O.

Genetic Research and Mental Health: Some Ethical Issues

2008-03-28T09:14:00.004-04:00

On Monday, March 17, two Indiana University mental health researchers, Dr. John I. Nurnberger and Dr. Alexander B. Niculescu III, addressed the weekly PredictER meeting at the IU Center for Bioethics in a talk entitled: “Genome-Wide Association Studies: What Have We Learned So Far". Dr. Nurnberger is the current director of the Institute of Psychiatric Research at the IU School of Medicine and Dr. Niculescu is Assistant Professor of Psychiatry and the Director of the Laboratory of Neurophenomics. Niculescu, Nurnberger and others recently published a widely discussed [see Steve Mitchell, MSNBC, 25 Feb. 2008] blood biomarkers for mood disorders study [PMID 18301394 - PDF].

Current Challenges in Understanding and Treating Mental Health Disorders

Dr. Nurnberger (who chaired the first portion of the lecture) began the talk by outlining the prevalence of various neuropsychiatric disorders, focusing especially on Bipolar disorder. Dr. Nurnberger's discussion was supplemented by an explanation from Dr. Niculescu of some of the shortcomings that past attempts to understand the genetic links to depressive/Bipolar disorders have had. According to Dr. Niculescu, “Until recently, the lack of concerted integration between the two approaches [has]… constituted a missed opportunity to accelerate our understanding of this complex and heterogeneous group of disorders”. Simply put, mood disorders involve many, many genes, which may be present in various combinations in any one of us, and interact in ways that defy easy classification. While it is clear that individuals with certain psychiatric disorders may have certain combination more often, we are far from understanding precisely which genes are responsible for which portions of the disorders.

Dr. Niculescu then detailed two main “arms” of his research; the first involves an innovative response to the problem of how to create a sophisticated working picture of the genomics involved in mental illness. Using a technique called Convergent Functional Genomics (CFG), Dr. Niculescu's team brings data from three sources together - animal model gene expression data, human genetic linkage/association data, and finally human tissue (postmortem brain, blood) data.

The advantages of bringing these there sources of information together are manifold. Dr. Niculescu’s team has been able to cross-validate findings from other research studies. This has helped his team to “extract meaning from large datasets" and to prioritize "candidate genes, pathways and mechanisms for subsequent targeted, hypothesis-driven research”. Furthermore, as Dr. Niculescu indicates, this convergent functional genomics approach may help to deliver on one of the most exciting and elusive goals of genetic research in the area of mental health: a blood test that could identify blood biomarkers of an illness.

“PhenoChipping” and the Move Towards More Individualized Mental Health Care

As part of working towards this goal, Dr. Niculescu’s research team is implementing another innovative approach – the use of PhenoChipping. In layterms, a gene is thought to be like a “blueprint” for how something biological is built; a phenotype is the way that thing is actually built and lives, which may diverge from the plan, or may change over time according to its environment. “PhenoChipping”, thus, refers to the process of collecting mental health data from subjects using a massive inventory of cognitive and affective tools. Researchers are hoping to combine this “in vivo” data with advanced genomic data to better understand what complex interaction of genes, environments, stress, and other factors participate in these serious and highly complex neuropsychiatric disorders.

Dr. Niculescu and his team see their research as moving towards the development and implementation of more tailored, personalized treatments in psychiatry. In this more personalized medicine the patient's unique profile is the target of therapeutic interventions. Dr. Niculescu states: "We hope our work will contribute to better diagnostics, early intervention and prevention efforts, and more efficacious treatments, with reduced side-effects".

Some Ethical Questions:

This research is a rich playing field for bioethics with its intersection of illness, consent, duress, technology, and research whose implications (and even direction ) can barely be anticipated from where we stand. Some questions to consider are:

What are the ethical issues to be considered when conducting research on populations of people that are ill, and ill in a way that affects judgment?

What does consent to mental illness research mean in the absence of a cure?

What if we were able to develop a blood test that help predictive capacity for determining if someone was at risk of developing a mood disorder? What would individuals want to know, and under what circumstances?

In what ways would the ethics of this predictive, diagnostic power mimic existing models in the ethics of disclosure of illness? How, for example, would it differ from existing ethical frameworks for disclosing HIV status, terminal illness, and other conditions?

What does participation in long-term mental health genomic studies mean for participants? Can participants “withdraw” from research, and if so, what happens to their data?

– Noah Zanville

[PredictER Blog welcomes this first contribution from Noah Zanville. Noah is nursing student in the accelerated track at the Indiana University School of Nursing. He serves as a member of IU School of Nursing's Leadership Council and is a key figure working with the local chapter of National Student Nurses Association. He is currently preparing to accept a position as a Research Assistant doing applied bioethics research around end of life issues in ICU settings through the Charles Warren Fairbanks Center for Medical Ethics.

Noah earned his bachelor's in Philosophy from the University of Oregon, and is a Licensed Massage Therapist with an emphasis in Lymphedema Management, Medical Massage in acute-care settings and energy work. Noah also worked as a free-lance medical illustrator for a time.]

Biobanks: Consent or Re-Consent?

2008-03-27T10:05:00.003-04:00

Participants donating samples to research biobanks are, often, contributing to a research resource that may be used for unanticipated research purposes in the future. For example, a participant may donate to a cardiovascular research biobank, but this donation might also be of value for future diabetes research. If a secondary use for this donation is discovered, should researchers be required to re-contact participants to secure consent for the previously unspecified research? Many researchers consider the labor of re-contact and re-consent to be a burden that will inhibit future research. Acquiring one-time, general consent for research, therefore, would seem to be the best and most efficient way to encourage the pace of medical research.

Many ethicists, and the World Health Organization (WHO), however, argue that one-time consent violates a research participant's autonomy. If a participant does not have the opportunity to evaluate these possible future uses and to decide whether their sample and information can be used for them, is the importance of informed consent being undermined?

Wednesday, at a noon seminar hosted by the IU School of Medicine's Department of Medical and Molecular Genetics, PredictER's Peter Schwartz critically evaluated some of the most prominent ethical arguments against one-time consent and described the complexity of deciding the role of autonomy in this realm. In his presentation, "Changing the Rules? Consent and Re-Consent in Predictive Health Research", Schwartz argued that it is not clear that a carefully constructed policy of one-time consent violates autonomy of subjects. While it would be inappropriate to justify such “one-time consent” simply on the basis of the social value of the research involved, or public support for such a policy, a careful reconsideration of autonomy may allow certain kinds of “blanket consent” policies. In his assessment, the path forward for consent for research involving biobanks is far from clear, but a possibility like one-time consent cannot be dismissed simply by appealing to a simple notion of autonomy. The crafting of responsible policies in this area will require more careful reflection on the relevant ethical notions.

Additional Reading:

45 CFR §46.116 - General requirements for informed consent. Department of Health and Human Services.

Caulfield T, Upshur RE, Daar A. DNA databanks and consent: a suggested policy option involving an authorization model. BMC Med Ethics. 2003 Jan 3;4:E1. PMID: 12513704

Genetic databases. Assessing the benefits and the impact on human and patient rights. World Health Organization, 2003. [PDF]

Texas: Your Boss, Your Medical Records and the Information Economy

2008-03-22T16:20:00.003-04:00

According to the CDC's Public Health Law News (19 March 2008) and the Houston Chronicle, Texas is now the first state in the nation to require (as of Jan. 1, 2008) that insurance providers hand over employees' health records to their employers. Currently, employees have no way of knowing of (or resisting) their bosses' efforts to acquire their medical records.

This new Texas law, HB 2015 [PDF], passed the legislature despite the opposition of the insurance industry. Thus, at least this time, the insurance industry was arguing in favor of protecting patient privacy rights. As L. M. Sixel writes in the Houston Chronicle: "Medical privacy has been protected for years by the most unlikely guardians: insurance companies." But, before we imagine the insurance industry as a giant defending the front lines in the battle to secure the privacy of medical records, we should think about what was really at stake in this legislative tussle: information in the information economy.

Employers argued that they needed access to their employees' medical records to better assess and more wisely purchase health plans for their workforce. Insurers, on the other hand, would want to restrict access to information they already possess; information, which allows them (and not their customers) to make better bets on their investments. Of course, many worry that employers will misuse medical information about their employees, but I doubt that the insurance industry cares much about discriminatory employment practices. Would, for example, the insurer suffer if employees with increased health risks were some how trimmed from an employer's payroll?

Readers of this blog will want to know what this means for the exchange of genetic and other predictive medical information between insurers and employers. According to the Houston Chronicle, there's nothing to fear in Texas, because "employers still cannot obtain health information protected by other state or federal laws, such as HIV status, genetic test results or mental illness". I'm not a legal scholar, so this was news to me. Do we already have federal protections against the discriminatory use of genetic information in the work place? If so, how will the much discussed GINA add to these protections? - J.O.

Who Do You Trust ... With Your Genetic Information?

2008-03-18T21:19:00.004-04:00

A recent post by Jane Sarasohn-Kahn of Health Populi summarizes the findings of the 2008 Edelman Trust Barometer. For those of us interested in the progress of predictive health research, who "we" trust is a key question. If participants and the community at large, including the legislators representing the community, do not trust the researchers who form biobanks and enroll participants in longitudinal studies, support will decline: the money will begin to dry up, adverse legislations will be passed, and (most importantly) potential research participants will do something else with their time and good will. Researchers will be relieved, therefore, to discover that the "Biotech/Life sciences" industry is one of the most trusted sectors in North America - a few points ahead of "Banks" and a few points behind "Technology".

One must remember, however, that the survey is limited to what the PR firm calls "opinion elites" - people Edelman's considers to be influential or, even, trend-setters. I suspect that most medical researchers hope for a more diverse demographic. Of course, even if the survey had measured the attitudes of a broader population, the findings would not be all good news for the future of predictive health research studies. The "Insurance" industry ranked only above "Media companies" on the trust-barometer in North America, and was ranked last in the global survey. Will people, even "opinion elites", be willing to participate in research if they anticipate that the results may be used unscrupulously (or to their personal disadvantage) by a distrusted insurance industry? Would you? - J.O.

Insurance and Incentives: Private or Public?

2008-03-14T22:32:00.004-04:00

[Sam Beasley, a law and bioethics student here at Indiana University, is a new member of the PredictER team. I asked him, as a way of introducing himself to PredictER's readers and friends, to share his thoughts on any topic relevant to the future of predictive health and personalized medicine. I think this is a good post and I hope that we will see more of Sam's contributions to PredictER Blog in the weeks to come. – Jere Odell]

Now, before I begin, I need to state upfront that this is the first blog post I have ever written and I am in no way an expert in politics, public policy, health care provision, insurance. I am also new to the PredictER project, and will be working with Jennifer Girod to investigate the legal and policy implications of predictive medicine. I hope that this experience will broaden and deepen my understanding of health care and public policy. Jere asked me to share what's on my mind, so here it is:

Following the publication of "Insurance Fears Lead Many to Shun DNA Tests" in The New York Times (24 February 2008), the blogosphere lit up with comments on the need to protect people from discrimination—protection that would be, presumably, provided by S. 358, the Genetic Information Nondiscrimination Act (GINA). A few, like David Dooling of PolITiGenomics, observed that the status-quo of insurance provision in the United States may seriously discourage the progress of medical research and personalized medicine. I'd like to take this discussion and move it an inch or two away from the worthy topic of discrimination. Let's think about the research and health care climate:

Which insurance system provides the most incentive to pursue predictive and preventative forms of medicine: a public-funded system or the current private system—one, in which private companies sell insurance to individuals?

As I said, I am certainly not an expert on these issues, but it seems to me that the major means of preventing chronic disease are, in large measure, socially, culturally and politically influenced (think food subsidies, health education in public schools, etc.). If eating a healthy diet, exercising regularly, getting scheduled medical exams, and avoiding unhealthy habits such as smoking and drug abuse are indeed foundational in the pursuit of life-long health, then public ownership would seem to be the way to go.

Public is superior to private because by spreading the bill for health care over the entire population, you would provide increased incentive for voters to support public programs that promote preventative health measures. In private systems where like-situated individuals are pooled together, the healthy will remain concerned about their own health, and not the health of their neighbors. Only when the health of all affects the individual, will the individual begin to care. And if we’ve learned anything in America, the quickest way to get people to care is through their wallet.

I am not arguing here that this is the “fairest” way to do things, (although my liberal leaning makes me inclined to think that basic health care for all is a social good worth our investment) to the contrary; some may abuse the system and choose not to pursue healthy living practices simply because they know that the cost to them will be subsidized by everyone else. I merely intend to say that if we want to stem the tide of deteriorating health in this country, we have got to find a way to make healthy living a social value. Broad-reaching social programs can do a lot to influence individual practices. If we can teach people to live in a way conducive to health, provide incentives for doing so, and get them the care that they need before minor problems turn into major ones [note: emergency room care will never be the most cost-effective means of providing basic health care needs], then we might be able to turn things around. Of course, this is just one piece in a complicated puzzle, but we have got to do better by ourselves, and if a public health care system is a step in the right direction, then we should pursue it. – Sam Beasley

Predict a Preterm Delivery: Grants from the March of Dimes

2008-03-11T11:43:00.004-04:00

The March of Dimes announced today the 10 winners of its 2008 Prematurity Research Initiative grants. The awards were given to "scientists who are trying to stem the growing pace of preterm birth by studying the role genes and heredity play in premature births and how the rate of fetal lung development, infection and other factors may trigger labor". This year's awards include research projects to identify genetic variations associated with preterm delivery, genetic differences in African-American women who gave birth prematurely, a family history study in Scotland, and protein biomarker studies in Israel and Portland, Oregon. In the press release, the need for and goal of these grants are described with happy, eugenic [Gk, eu – gen = "wellborn"] overtones: “Most of the causes of preterm birth remain unknown. There is an urgent purpose for this research,” said Dr. Jennifer L. Howse, president of the March of Dimes. “We continue to work toward a future when every baby is born healthy.”

As the parent of a couple of "preemies", I'm fairly certain that this research wouldn't have helped us; premature twins are not uncommon. From a predictive health angle, I'm not sure how such information would be used. Presumably men will not be so foolish as to screen potential spouses for a premature delivery marker … that'd be a quick way to end an engagement. As for the clinical uses, what interventions would be available to women with increased risks for premature delivery? More anxiety and more bed rest?

MCI and Predictive Neuroimaging

2008-03-05T18:24:00.002-05:00

Monday ( March 3, 2008) at the weekly PredictER meeting, Andrew Saykin, PsyD, Director, Indiana University Center for Neuroimaging, shared his work on the neuroimaging of Alzheimer's disease. Saykin's study of Alzheimer's began with a small cohort at Dartmouth. Except for the control population, most of participants in this research were diagnosed with MCI (Mild Cognitive Impairment). As his research developed his cohorts began to include individuals reporting memory complaints, but who were not yet diagnosed with MCI. Interestingly, Dr. Saykin has observed changes in the brain scans of both MCI patients and patients with memory complaints compared to his control. Today Saykin is working to build (and collaborate with) larger, more diverse cohorts—cohorts which are easier to find at research institutions, like the Indiana University School of Medicine, located in "sunny" Indianapolis. In addition to representing a more diverse demographic, these developing cohorts will also examine ways to identify, with new imaging technologies and genetic research tools, the earliest biomarkers of the disease. As with many predictive health research studies, the ultimate goal is to identify the disease early enough to develop therapeutic and preventative interventions.

Some of the ethical issues discussed include:

How much to tell research participants: Do participants want to know the results of every memory test and each neuroimaging procedure?

Should researchers be prepared to disclose this information even when a reliable interpretation of the risks is not available?

The value of this research to public health: At the moment and into the foreseeable future, the ability to diagnose the onset of Alzheimer's disease exceeds medicine’s ability to treat the disease … will early diagnostics result in inappropriate marketing of unproven interventions to at-risk individuals?

Will there be a way to protect individuals from wasted expense, discrimination and questionable experimental treatments while at the same time encouraging continued research to understand the disease?

To join us at a future PredictER meeting, check our Center's calendar to verify the time and topic: www.bioethics.iu.edu - calendar

Who Owns Your DNA?

2008-03-03T19:31:00.004-05:00

Do I own "my" DNA? I'm not sure … I don't own my height or my eye color, so why should I assert a right to possess my genetic information? At the same time, can anyone truly "own" this information? Should I worry that a research institution or a pharmaceutical company might someday tell me that I can not control what I "do" with my genetic information, because they "own" it? These are vexing questions and seldom addressed in blogs on the ethics of genetic research and the future of personalized medicine. Thus, I couldn't resist sharing this comic by Mike Adams, "Biopiracy Patents and the Rise of Intellectual Imperialism (comic)", Sunday, March 1, 2008. www.NaturalNews.com.

In the article that accompanies the comic, Adams gladly veers off into the art of the alarmist rant: "in the near future, couples who wish to reproduce may be forced to pay intellectual property royalties to wealthy corporations in exchange for the 'rights' to copy their own genes through sexual reproduction". If Adams is right about this one, in the future, the individual members of these "wealthy corporations" will have forgotten that they have or want to have children and grandchildren. Like many rants, however, Adams provides plenty of fuel to start a good discussion; thus, if the comic bores you, read the article.