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

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.

1. 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.
2. 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

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

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

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

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

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

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

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?

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

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

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

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

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

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.