Genetic Research: Watson or Spears?

After resisting the temptation to comment on the Watson scandal, I'm giving in ... and if I'm going to "muckrake", I think there's no better time to add Britney Spears to the mix. The Nobel laureate (Watson not Spears) probably deserves the broad public reprimand he's currently recieving for his racist comments. Hsien-Hsien Lei of Eye on DNA provides a good summary of how genetics bloggers are responding and both the BBC and The New York Times have reported his comments and their consequences. Meanwhile, the scandal has re-ignited attention to his controversial ideas about genetic research and contemporary eugenics; for a sample, see Michael Gerson's Op-Ed column in the Washington Post, "The Eugenics Temptation".

If anything good emerges from this uproar, let's hope that it includes a healthy discussion of the social implications of genetic research and the future of predictive health care. For example, this event gives us the occassion to explore the impact of this and similar scandals on the public's opinion of genetic and biomedical research? According to Google Trends the search for [james watson] may be reaching its peak for the last three years:

How will this sharp increase in the public's attention to Watson's notions change (if at all) the effort to recruit potential research participants? At his best (or worst) I'd bet that Watson always loses to Spears:

But who is more likely to participate in genetic research? Britney's news junkies or Jim's? - J.O.

PredictER at the ASBH Annual Meeting

If you are attending 9th Annual Meeting of the ASBH (American Society of Bioethics and Humanities) this weekend in Washington, D.C., do not miss presentations by PredictER's faculty and friends. Scott C. Denne, MD, Timothy Caulfield, LLM, Barbara J. Evans, PhD, JD, LLM, and Peter H. Schwartz, MD, PhD. will address the ethical, legal and social implications of predictive health research, focusing on the essentially collaborative and interdisciplinary nature of research on these issues in their panel session. The panel, Ethics and Regulation of Predictive Health Research: A New Translational Paradigm?, will discuss pediatric biobanks; informed consent; regulatory protections; and patient understanding of risk and genetic information. For a complete abstract, see the American Society for Bioethics and Humanities program description: Sunday, 21 October 2007 - 11:00 AM

Other panel sessions relevant to the ethics of predictive health research include:

- One Hundred Years of Eugenics: From the “Indiana Experiment” to the Human Genome Project. Friday, 19 October 2007: 10:30 AM-11:30 AM
- Who Controls Your DNA? Saturday, 20 October 2007: 10:30 AM-11:30 AM
- Identifiability in Genomic Research: Considerations of Privacy, Autonomy, and Social Identity. Sunday, 21 October 2007: 9:45 AM-10:45 AM

Insurance Underwriting and Healthcare Limbo

Baring our Genomes to Insurers

“As medieval European Christians feared to have their souls bared for public examination, lest they be suspected of heresy, so modern, secular Westerners fear the baring of the nearest thing to their individual essences that science has come up with: their genomes.” – The Economist, August 2007

As the article correctly suggests, the public’s preoccupation with their genetic information as it relates to their insurability reflects a deep concern of life-altering discrimination based on immutable characteristics. If a person bares their “soul” by taking a genetic screening test and discovers the existence of a genetic disorder, they may be subject to insurance underwriting which increases the premium, excludes certain medical conditions from coverage, or shortens the benefit period. Despite this clever analogy, the article’s conclusion (an eventual system overhaul) leaps over the public’s very real concerns regarding coverage during the transition to a reformed insurance industry.

A False Sense of Confidence: Underwriting with Imperfect Facts

The principle of individual underwriting relies on assessing future risk to determine eligibility and rates. These have traditionally been based on imperfect or external factors rather than highly certain predispositions. Several opponents of genetic exceptionalism, such as Mark Rothstein (35 J. Law. Med. & Ethics 59 (2007)), argue that genetics serve as an imperfect predictor of health. They remind us that the interplay between a genetic predisposition and environmental factors will affect a disorder’s severity and manifestation. Rothstein proposes a general increase in the privacy of health information rather than separately regulating genetic information.

Until Reform: Assessing the Current Legal Framework and Possible Effects

Although idealistic, waiting to pass a more perfect and encompassing federal regulation relating to information privacy in these contexts will not adequately address shortcomings in our current treatment of genetic information in the insurance arena. While no federal law exists to prohibit this practice by health insurance companies, state laws offer disparate protections and are widely misinterpreted. Several states expressly differentiate between health, disability, or life insurance, allowing discrimination for some coverage based on sound actuarial principles. If, at the same time, insurance companies and others misinterpret the significance of genetic test results, this confusion, as Hsien-Hsien Lei of Eye On DNA reminds us, would not be good news for future of predictive health care.

Despite the fact that genetics may serve as an imperfect proxy to assess future risk, insurance companies’ business interests dictate the compilation of as much information as possible to assess risk occurrence. Although no insurance companies currently require applicants to submit genetic tests for underwriting purposes, Nancy Kass and Amy Medley (35 J. Law. Med. & Ethics 66 (2007)) suggest that future insurance companies may adopt these procedures. A Kaiser Family Foundation Study conducted in 2001, which reported insurance company responses to hypothetical applicants, suggests that applications with a high predisposition to severe incurable illness would result in complete coverage denial. In such a scenario, as David P. Hamilton at VentureBeat suggests, individuals may be relegated to profitable and unprofitable segments. On the other hand, integrating genetic tests in the risk-rating process may eventually reach a status quo--that is, all individuals are predisposed to some illness or condition and coverage will eventually disperse.

While waiting for the hypothetical day in which insurance coverage (post-genetic testing) returns to status quo, state laws that allow underwriting (either by statute or via absence of legislation) based on an individual’s genetic information in any insurance context must be re-examined. Should we be concerned that a risk-calculating business may formulate assessments based on such imperfect data and with such severe consequences? Current legislative status suggests that insurance companies have no legal duty preventing them from using genetic information or perceived genetic characteristics as a basis for coverage, benefits, or denials in some contexts. Although no cases exist to document conflicts related to insurance, several notable cases in the employment context suggest it is imperative for the law to recognize a duty and a remedy to potentially injured individuals. Without the legal recognition of such rights, courts' conservative jurisprudence could prevent any legal remedy by dismissing plaintiffs’ claims. In such a context, health care and insurance consumers would sink from the medieval limbo The Economist describes to dire region of despair. -- K.D.

Medical Records and the VA: Cancer, Laptops, Babies and Bath Water

In Wednesday's New York Times, Gina Kolata reports on the Veteran Administration's new national directive which requires states to agree to conditions prior to acquiring cancer patients’ personal information and health records. State laws often require hospitals to submit data, but these laws do not apply to federal agencies like the VA. This policy will result in less reliable statistics on the prevalence of cancer and will also chill the progress of state administered cancer research. On the other hand, the protection of patient privacy will be enhanced. The VA'S chief of research and development office, Dr. Joel Kupersmith, noted a "dynamic tension between patient privacy and the desire to use patients’ private information to do research", but stressed that the "paramount issue for us is the protection of patient privacy and the protection of patient information."

The impact of these new restrictions on predictive health cancer research will be especially felt in 17 regions that are part of the National Cancer Institute’s network. According to Kolata, these regions use personal health records provided by hospitals to investigate "cancer risk factors and outcomes" and to "provide data to academic researchers who are doing studies and need to interview patients or need genetic information."While a few states have agreed to sign the directive, many others are holding out--most notably, the state California. States complain that the directives place too many restrictions on the use of the data and that complying with these conditions is both expensive and impractical. Tina Clarke, an epidemiologist at the Northern California Cancer Center estimates that the directive will add over a year to the ethics review process. Clarke added, "Privacy concerns are serious … [b]ut at the same time, this is a baby with the bath water problem." -- J.O.

PredictER Notes:

1. In the next few weeks, as the public begins to digest this news, many cancer patients will be surprised to discover that their medical records and personal information are available for research. Will this story reduce public support and willingness to participate in predictive health research?

2. As Kolata reports, the VA'S chief of research and development, noted that "the department was especially sensitive to privacy concerns in light of incidents like the theft by teenagers last year of a laptop computer containing personal information on 26.5 million veterans." The new directive does not, of course, provide information and privacy protections that would have prevented the theft of a laptop. Will the VA's new policy truly provide the information security and privacy protections that patients expect?

Related document:

VHA DIRECTIVE 2007-023 (pdf) - RELEASE OF VA DATA TO STATE CENTRAL CANCER REGISTRIES. 15 August 2007. Department of Veterans Affairs -Veterans Health Administration.

Biobanks and Dead People: DNA and the Taboo

In an informative, two-part post at the end of August, Blaine Bettinger of The Genetic Genealogist introduced DNA banking for the deceased and questioned the ethics of biobanking without informed consent. In the first post (August 28) Bettinger writes:

DNA storage is being offered by funeral directors and retailers around the world. But it raises a few important questions – how necessary or useful is a dead person’s DNA, and is the retrieval of DNA from someone who has not given consent ethical?

In part 2 (August 29), he notes:

The most important concern about DNA retrieval from the deceased is the question of consent. Unless the deceased was asked before death, retrieval is without consent. Currently, however, you can obtain and analyze anyone’s DNA without consent, so perhaps this isn’t as radical as it seems.

Bettinger's musings stress the importance of individual autonomy--a value that societies often try to protect by requesting "informed consent" or "advanced directives" from willing tissue donors. In the United States many legal drivers have considered the option to consent to organ donation in the event of a fatal accident. Consent, however, for DNA retrieval in such a circumstance, seems somehow out of place … but why? Why isn't DNA retrieval from a recently deceased person protected and facilitated in the same way as is retrieving an eye-ball for transplant or research? Perhaps the latter, organ "retrieval" without a donor's advanced directive, breaks a deep-seated cultural taboo against the mutilation of the human body. If so, why doesn't the thought an unauthorized retrieval of a deceased person's DNA, arouse a similar sense that the human body has been violated? Do we "own" our DNA any less than we own our eyeballs? Is it a matter of aesthetics--DNA retrieval doesn't botch the open casket? Or scarcity? DNA is more common than spit; perhaps we fail to feel as possessive of a bit of human material we are not likely to miss? Or, maybe we just do not include DNA in our concept of the body … How is DNA a part of us? Is it merely information about the body or is it a part of the body our advanced directives are meant to protect?

These are only some of the questions we should consider while entering an era in which the promise of genetic genealogy, genetic research and personalized medicine encourages the practice of DNA biobanking. These are not questions we should leave to funeral directors and the retailers of direct-to-consumer DNA tests. Therefore, The Genetic Genealogist, and many of the other fine blogs at The DNA Network, should be applauded for doing their part to encourage public discussions of these issues.