Legislatures Race to Define Rights and Obligations Relating to Genetic Information: Avoiding Another Bearder

California is the latest state to take steps toward defining permissible uses and restrictions relating to obtaining, retaining, and sharing individuals’ genetic information.  Senator Alex Padilla recently introduced Senate Bill 1267, the Genetic Information Privacy Act, designed to protect individuals against surreptitious testing of their genetic material without consent.  SB 1267 is a comprehensive piece of legislation which would require a specific authorization to obtain, analyze, or disclose genetic information unless otherwise exempted or allowed by law (exemptions include activities such as newborn screening, duties of the medical examiner, using some types of data for research, and law enforcement uses).  The legislation also contains a civil penalty structure for violations and provides a private right of action for aggrieved individuals who suffer economic, bodily, or emotional harm proximately caused by such violations. 

California’s legislation classifies genetic information within a privacy framework and seeks to increase individual control by requiring the individual to understand the purposes of how the information will be used and stored, as well as which entities have access to the information.  Other states such as Alabama, Massachusetts, South Dakota, and Vermont have introduced similar legislation that govern the collection, retention, and sharing of DNA, genetic information, and or genetic test results.  These states differ in their comprehensiveness and scope- from South Dakota’s paragraph long House Bill 1260 to Alabama’s extensive eleven page House 78.

Unlike California, these states seek to classify DNA, genetic information, and or genetic test results within a property law framework rather than under the umbrella of privacy, which carries distinct legal requirements for transfer, use, and retention.   As legislatures race to define individual rights within existing  legal concepts, they should be well aware of property law’s limitations at upholding individual autonomy while appropriately and efficiently defining permissible research uses depending on how the legislature crafts the language of the statute. 

As we witnessed in the progression of the Bearder v. Minnesota litigation (related to collecting, retaining, and disseminating newborn blood spots) even if a law is seemingly clear, individuals, clinicians, and investigators still may face confusion over relevant terminology and obligations relating to the meaning of key terms and the scope of consent exemptions.  (Blogs and article on that topic here.) Specifically, will these statutes govern the collection, use, and dissemination of genetic information after the analysis of a genetic test using a blood sample or will the language broadly address collecting blood samples, DNA, and genetic test information?  Public health officials, investigators, and individuals have vehemently disagreed over the meaning and scope of these terms and when consent is required.  Individuals have claimed immense injury to privacy and dignity when public health officials and investigators collect, retain, and disseminate their blood samples without consent, while public health officials and investigators decried setbacks to research efforts after they were legally ordered to destroy their improperly obtained blood samples. 

Last November, the Minnesota Supreme Court clarified its state Genetic Privacy Act, holding that an individual’s blood sample contains biological information and biological information falls within the definition of genetic information.   That is, any statutory references to genetic information also applies to blood samples.  It appears that the majority adopted the Plaintiffs' argument  that a blood sample contains DNA and the structure of DNA is genetic information, which means statutory requirements governing the collection, use, storage, and dissemination of genetic information necessarily include blood samples.   

Although this seminal holding is jurisdictionally limited, defining the meaning and scope of biological specimen, blood sample, DNA, and genetic information requires painstaking semantic precision.  Furthermore, the concurrence/dissent in Bearder demonstrates even keen legal minds apply varying logic to interpret terminology and arrive at starkly divergent conclusions.  Defining these terms becomes even more pressing should this or similar state legislation pass because it carries the compliance incentive of a penalty structure for violation.  Legislators should take note of litigation in this area and aim to meticulously and unambiguously define relevant terminology so individuals, public health officials, and investigators can understand their interrelated rights, obligations, and statutory exemptions.  

--Katherine Drabiak-Syed

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.

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

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

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

Newborn Blood Spot Litigation Continues in Minnesota and Texas

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

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

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.

Genetic Privacy: T.J. Maxx and the NIH

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

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

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.

GINA, The Good News: Engaging the Public

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

GINA, The Bad News: Adverse Selection

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 ... ?

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?

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.

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

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?

[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

Who Owns Your DNA?

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.

GINA and the "Axis of Evil"?

Although the status of S. 358, the Genetic Information Nondiscrimination Act (GINA), has not changed, [Senator Tom Coburn (Rep., Oklahoma) continues to block the bill], its place in legislative limbo still draws the attention of editors and bloggers. Earlier this month Nature reminded readers of the struggle to unblock the bill and provocatively named Coburn a "rogue senator". Coburn's expressed opposition to GINA evolves, but his strongest argument may be that he wants to protect insurers and employers from (as Nature writes) "an avalanche of frivolous litigation". Several states, however, have passed similar legislation and have not encountered the predicted avalanche in the civil courts. Many writers, including the editors of Nature, worry that Coburn's opposition to the bill is slowing the progress of personalized medicine. In response, therefore, the Nature editorial implicitly calls for the genetic research community to lobby on behalf of the bill. The editors note that "scientists should tell" Senate Majority Leader Harry Reid to break Coburn's hold. Reid could bring the bill to a vote by allowing 30 hours of Senate debate on the topic. However, as the Senate has many bills to address, Reid is unlikely to find 30 hours for GINA.

Among other responses, a post in a widely read political blog, Daily Kos, picked up the story and (like many observers in the United States) quickly assumed the worst of the health insurance industry: "actuaries across the coverage denial sector are salivating at the prospect of putting your genetic information to work for their bosses". Is the insurance industry really that pernicious? Yes, they make money by gambling on the health of individuals … and sometimes they refuse to take a bet, but are they (with Coburn) really worthy of Bush's "axis of evil" rhetoric. Although I have to admit that I wouldn't volunteer my genetic information (assuming that I had it) to potential insurance providers, do we really know that insurance companies are eager to access our genetic information? Don't they already have good predictors and other data to use when assessing the odds of gambling on our health? (Smoking comes to mind.) In the immediate future, I wouldn't be surprised if the consumer genomics market will result in an increase in purchases of insurance policy upgrades. Given that the "predictive" value of genomic testing is very far from absolute, isn't it possible that many will overact to their new found "risks" and subsequently go impulse-shopping for more insurance? Perhaps the insurance companies would use genetic information to market more aggressive and supplemental coverage … would this be unjust "discrimination"? - J.O.

GINA: Behind-the-Scenes Veto Threat

What kept the "Genetic Information Nondiscrimination Act" out of the omnibus? Apparently "Dr. No" (Sen. Coburn, the GINA's persistent foe) wasn't alone in his opposition to the legistlation. "Capitol Hill Watch" by Kaisernetwork.org relays this bit of back-room negotiating from CQ Today (14 January 2008):

A "behind-the-scenes veto threat from the White House apparently kept a popular genetics anti-discrimination measure" (HR 493) from being attached to the FY 2008 omnibus spending bill (PL 110-161), CQ Today reports. Regan Lachapelle, a spokesperson for Senate Majority Leader Harry Reid (D-Nev.), said senior administration negotiators told Senate Democrats that Bush would veto the package if the genetics measure was included. The legislation would bar employers and insurers from using information from genetic testing to determine how much a person's insurance premiums should be or other business decisions, including hiring. According to CQ Today, "Congress will work to clear the bill early this session".

Congress will work to clear ... that's a rather vague forecast. - J.O.

GINA? Not in the omnibus.

In a recent email to the Genetic Alliance listserv, Sharon F. Terry (President and CEO, Genetic Alliance) announced that the Genetic Information Nondiscrimination Act (S.358) "is not included in the omnibus bill that will come out of the rules committee tonight [Dec. 16] in the House". Terry adds that the House "is worried about a veto from the President, and wants the omnibus to be as noncontroversial as possible".

Two versions of the omnibus, H.R. 2764: Department of State, Foreign Operations, and Related Programs Appropriations Act, 2008, have now passed in both the House and the Senate. Before sending the bill to the President, a conference committee of senators and representatives will work to justify differences in the versions. - J.O.

Predictive Health Legislative Update: GINA, HIPSA and more ...

If you are interested in U.S. legislative developments that may impact the progress of predictive health and genetic research, you've probably heard of The Genetic Information Nondiscrimination Act (GINA). If enacted, GINA (S.358) would "prohibit discrimination on the basis of genetic information with respect to health insurance and employment". Although widely supported, GINA's progress has been stalled by the opposition of one legislator, Sen. Coburn [OK]. Coburn has placed a block on the bill and offers an evolving account for his opposition. As reported in Wired, November 17, 2007, Coburn objects to "the possibility that an employer who provides health insurance for its workers could be sued both as an insurer and as an employer". The bill's sponsor, Rep. Slaughter (NY), dismissed the latest justification for Coburn's hold as "creative".

Although GINA has received the most attention from the press and legislators (and rightly so, as it is only one roadblock away from a vote) other bills relevant to predictive health research have also been introduced. Like GINA, two of these were written with the intent to enhance the privacy of medical records. Both of these are currently waiting for review in the Senate's Committee on Health, Education, Labor, and Pensions:

S.1455 National Health Information Technology and Privacy Advancement Act of 2007
Introduced May 23, 2007, this bill aims "to provide for the establishment of a health information technology and privacy system". The bill's sponsor, Sen. Sheldon Whitehouse [RI], and four cosponsors ask for creation of the "Office of the National Coordinator for Health Information Technology". Among other things, this new "nonprofit national health information technology and privacy corporation" would identify rules for the research use of non-identifiable health care data.

S.1814 Health Information Privacy and Security Act (HIPSA)
HIPSA, reviewed here at PredictER Blog, was introduced by Sen. Leahy [VT] on July 18, 2007. While intending, in part, to "promote the use of non-identifiable information for health research", the bill strengthens personal privacy protections. If passed, individuals would be permitted to inspect a copy of this information and would be notified of security breaches. HIPSA also requires the Health and Human Services Secretary to provide "model written authorization for the disclosure" of health information and establishes criminal and civil penalties for intentional violations.

Readers interested in the development of biobanks and genetic databases for pediatric research, will want to follow the progress of a third bill: S.911 Conquer Childhood Cancer Act of 2007. This bill amends the Public Health Service Act to establish a grant mechanism to sponsor the creation of a national, population-based database for pediatric cancer research—the Childhood Cancer Research Network. The Act, introduced by Sen. Reed [RI], would also provide grants for Research Fellowships and for the public awareness and communication efforts of relevant advocacy organizations. This bill was recently reviewed by the Senate's Committee on Health, Education, Labor, and Pensions and placed on the Senate Legislative Calendar (see General Orders, No. 535). A version of the bill is also making its way through the House of Representatives; H.R.1553 is sponsored by Rep. Deborah Pryce of Ohio and was referred to the House Subcommittee on Health on March 16, 2007. - J.O.

Subscribe to PredictER Blog for updates on these and other legislative developments.

To Blog or To Jog? Genetic Tests and "Life-Changing" Decisions

In his November 26th post "AfricanDNA.com - A New Genetic Genealogy Company", Blaine Bettinger of The Genetic Genealogist reviews a new genetic test and genealogy information provider. The venture (launched by Henry Louis Gates, Jr.--an esteemed literary critic and the director of Harvard's W.E.B. Du Bois Institute for African and African American Research, but not a geneticist) was also the subject of an article by Ron Nixon in The New York Times ("DNA Tests Find Branches but Few Roots", 25 November 2007). In this article Dixon quotes NYU sociologist and former advisor to the Human Genome Project, Troy Duster:

“People are making life-changing decisions based on these tests and may not be aware of the limitations .... While I don’t think any of the companies are deliberately misleading customers, they may have a financial incentive to tell people what they want to hear.”

Bettinger takes issue with the comment and asks: "Do people really make 'life-changing' decisions based upon the results of a genetic genealogy test?" He adds "So, what type of decisions are being referred to, and how often are people really making them?" A quick look at Duster's co-authored editorial in Science (19 October 2007) suggests that these decisions include potentially unexpected and sometimes distressing changes in personal identity, changes in self-reported ethnicity, and the selective financial support of African communities. While Duster's comment was made in the context of a discussion of genetic genealogy testing, he may have also had other genetic testing applications in mind or, perhaps, the unwarranted reification of race in genetic research. [See Duster's "Race and reification in science". Science 2005 Feb 18;307(5712):1050-1.]

Although some individuals (for better or for worse) may make "life-changing" decisions following the receipt of genetic genealogy test results, many more are expected to make these decisions following medical genetic tests. Bettinger's question, however, deserves attention here as well: Do people really make "life-changing" decisions based upon the results of a broad genetic test for uncertain health risks? Many individuals requesting a test for specific genetic disorders (Huntington Disease, for example) do make some life-changing decisions based upon the results, but how will individuals interpret increases in risks for more common health conditions? Heart disease, diabetes, osteoporosis? Many of us already know that we have a family history of one or more these (and other) diseases, but how many of us successfully respond to this information. Will the results of a genetic test provide better motivation to change our lifestyles? How many of us expect to jog more than we blog? -- J.O.

Citations:

Bolnick DA, Fullwiley D, Duster T, and et al. The science and business of genetic ancestry testing. Science. 2007 Oct 19;318(5849):399-400.
PubMed ID: 17947567 | PredictER CiteULike [excerpt]

Duster T. Race and reification in science. Science. 2005 Feb 18;307(5712):1050-1.
PubMed ID: 15718453 | PredictER CiteULike [excerpt]