Five Questions for Personal Genomics in 2010
Death, taxes and January prediction columns: these things are inevitable. So what? A new year offers a convenient—if arbitrary—time to review the year that was and contemplate what lies ahead. Without further ado, here are five of the questions the Genomics Law Report is asking as we kick off 2010.
1. Will the $1,000 genome live up to the hype? Affordable whole-genome sequencing is coming, possibly as early as this year depending on whom you ask. But when the day inevitably arrives, after the media frenzy has subsided, will the $1,000 genome prove anti-climactic?
Whole-genome sequencing is a means to an end and not an end in itself. The understandable excitement surrounding Complete Genomics’ November announcement that it had sequenced three genomes for an average cost of $4,400 often neglected to focus on what the price tag did not cover: the substantial costs associated with interpreting the genomic data.
For genomics researchers, the falling cost of whole-genome sequencing is a continuing cause for celebration, enabling increasingly ambitious research projects. But the success of personal genomics, which is what really matters to consumers, patients and healthcare providers, requires more than inexpensive genomic data. The real breakthrough in personal genomics will come when we can offer individuals affordable access to their whole-genome sequence as well as to the genomic tools and knowledgebase necessary for those individuals to put that data to use.
GINA: Coming Soon to a Workplace Poster Near You
As we reminded you last week, Title II of the Genetic Information Nondiscrimination Act (GINA) took effect on November 21st. Title II prohibits genetic discrimination and restricts the collection of genetic information by all private, state, and local government employers with more than fifteen employees. (Title I prohibits health insurers and group plans from using genetic information to deny coverage or set payment rates.)
For all the attention that GINA has achieved, many Americans will soon learn of its existence for the first time in break rooms and at water coolers across the country, courtesy of the Equal Employment Opportunity Commission’s (EEOC) new workplace poster (pdf). The poster is required to be displayed by all employers covered by federal anti-discrimination laws.
Welcoming GINA into the Workplace
The most recent layer of federal antidiscrimination law took effect this past weekend – to the ADA, Title VII, FMLA and other federal and state laws, employers can add another: the Genetic Information Nondiscrimination Act. Title I of this new law (called GINA) took effect in May 2009, prohibiting health insurers and group plans from using genetic information to deny coverage or set payment rates. Title II now joins the fray, and with it brings prohibitions that make their way into almost every workplace. Under Title II, an employer may not “discriminate against any employee with respect to the compensation, terms, conditions, or privileges of employment … because of genetic information.”
While a long time in the making (13 years of (often procedural) debate), in the end, there was little argument in Congress that this law was needed – the Senate approved it unanimously, and the House of Representatives had only one vote against it. As early as January 2001, the Council for Responsible Genetics claimed hundreds of documented cases of genetic discrimination and/or fear of genetic discrimination in its Genetic Discrimination: Position Paper (pdf). In a 2007 survey (pdf), the Genetics and Public Policy Center found that 92% of participants expressed concerns that a genetic test could be used in harmful ways against a person. Last summer, we reported on Major League Baseball’s genetic testing to verify the reported ages of certain Latin American prospects. This past month, the University of Akron made headlines over a new policy requiring job applicants to turn over DNA samples, and in the process energized the Ohio chapter of the ACLU.
Disclosure of Patients’ Genetic Information Without Their Consent–Is the “Public Interest” Really a Sufficient Justification?
New guidance issued by the U.K. General Medical Council (GMC) regarding a physician’s ability to disclose to a patient’s relatives the diagnosis of such patient’s genetic illness1 has recently been a hot topic of discussion on several online forums.2 The guidance, which became effective on October 12, 2009 and addresses medical privacy issues in a variety of contexts (not just genetic information sharing), recognizes that the diagnosis of a patient’s genetic illness may indicate the likelihood of the same illness in the patient’s close blood relatives. The GMC suggests that a physician’s first obligation after diagnosing a genetic illness is to explain to the patient the likelihood that close relatives are also at risk and to encourage the patient to discuss his or her illness with relatives. However, should the patient refuse to voluntarily disclose the illness to at risk family members, the physician may disclose such information if disclosure would be “justified in the public interest.” Physicians are instructed to balance their duty to provide care to the patient against their duty to protect others from serious harm.3
Federal Privacy Regulation and the Financially Troubled DTC Genomics Company
Last month, the Genomics Law Report prepared a three-part series entitled What Happens if a DTC Genomics Company Goes Belly Up? The series, which was originally published on Genetic Future (see Parts 1, 2 and 3), reviewed the privacy policies of several genomics companies to determine whether they prohibit the transfer of private data to third parties. We also discussed the fact that a bankruptcy court may approve such a transfer notwithstanding a policy to the contrary. In this post, we examine whether federal regulations may restrict the dissemination of private genomic data—including the new rules proposed earlier this month under the Genetic Information Nondiscrimination Act of 2008.
1. Is DTC Getting HIPAA? The Health Insurance Portability and Accountability Act of 1996 (HIPAA), the most prominent federal regulation governing the privacy of medical records, established the Privacy Rule to provide national standards for protected medical records. HIPAA’s Privacy Rule currently applies only to “covered entities” and business associates of covered entities. A covered entity is a health plan, health care clearinghouse, or a health care provider. Since a company providing genomic sequencing services is not a health plan or a health care clearinghouse, HIPAA will apply only if such a company is determined to be a health care provider or a business associate of a covered entity.
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Why the Errors of the Human Provenance Project Will Echo Beyond the U.K.’s Borders
ScienceInsider has posted several pieces this morning describing and critiquing the U.K. Border Agency’s Human Provenance pilot project:
Scientists are greeting with surprise and dismay a project to use DNA and isotope analysis of tissue from asylum seekers to evaluate their nationality and help decide who can enter the United Kingdom. “Horrifying,” “naïve,” and “flawed” are among the adjectives geneticists and isotope specialists have used to describe the “Human Provenance pilot project,” launched quietly in mid-September by the U.K. Border Agency. Their consensus: The project is not scientifically valid—or even sensible.
In addition to the feature article, ScienceInsider has also published a FAQ describing what is now known about the program as well as links to the underlying documents and expanded reactions from leading geneticists and isotope specialists.
The project is, as the name indicates, a pilot project, and one spokesperson described it as being “in its baby stages.” Still, as reported by ScienceInsider, the scientific community’s reaction to the program appears to be swift, unanimous and extraordinarily critical. Daniel MacArthur of Genetic Future has a slightly more measured take, expressing skepticism about the ability of the government agency to identify precisely an individual’s geographic ancestry based on genomic data and rightly pointing out that the “crucial issue is that it must be shown that the data are used in appropriate ways, and not given undue weight in making serious decisions about a person’s future.” That’s an issue that cannot be resolved until the Border Agency provides additional details on both its scientific methods and its utilization of the collected DNA and isotope data.
The near-uniform scientific skepticism that has greeted the announcement of the Human Provenance project suggests that we should not be surprised to see the pilot project substantially revised, or even scrapped altogether. But has damage already been done?
Genetic Exceptionalism and Paternalism Themes in new German Legislation
In April, the German Parliament approved the Human Genetic Examination Act. An English translation of the Act (pdf), which appears likely to be enacted, was recently posted to EuroGentest. (Special thanks to the PHG Foundation for locating the translation.) The Act is a clear example of what is known as “genetic exceptionalism”—the belief that genetic information is qualitatively different from other forms of personal or medical information—staking out a position near the paternalistic end of genetic regulation. Despite aspiring “to protect human dignity and ensure the individual right to self-determination via sufficient information,” the substance of the Act severely restricts individual freedom of action.
Strict Regulation of Genetic Examinations
The Act employs the terms “genetic examination” and “genetic analysis” in most of its provisions and defines these terms so broadly (§ 3) as to admit some uncertainty as to what would or would not constitute a genetic examination or genetic analysis. The vagueness of the definitions is mitigated to a degree by other defined terms that clarify that the Act’s provisions on genetic examinations and genetic analyses apply, in fact, to such examinations and analyses for medical purposes or for determining descent. The Act requires that “diagnostic” or “predictive” genetic examinations be ordered and interpreted by medical doctors having appropriate training and conducted only by institutions having the appropriate accreditation (§ 7). Such genetic examinations and genetic analyses may be conducted only upon the express, written and informed consent of the patient (§ 8).
MLB’s Genetic Testing Program at the Plate Again
The New York Times published a follow up piece to its story on Major League Baseball using genetic testing to confirm the reported ages of some young baseball aspirants. Last week’s GLR post examined MLB’s genetic testing program in the context of the Genetic Information Nondiscrimination Act (GINA) and has prompted further internal discussion here at GLR, with our own John Conley asking a few questions:
I guess MLB would say they’re not using genetic information to discriminate in the usual sense of screening out high-risk people, but just to verify that the prospect isn’t defrauding them about an essential datum — after some notorious cases of lying and producing false documents in both directions. And in the Bulls’ defense, they said they were spooked by numerous cases of basketball players dropping dead as a result of undiagnosed heart defects that seem to afflict the very tall. I guess they were also mindful of Reggie Lewis of the Celtics, who passed out, WAS diagnosed, shopped for a favorable opinion, then died playing. Does GINA allow any sort of defensive testing like this by employees whose work creates risk to particular categories of people? Or must the employer let the employees kill themselves if they wish?
There is clearly a good practical reason for the testing in both cases that John identifies, but neither testing to confirm identity (or otherwise prevent fraud, as in the case of MLB) or to prevent even potentially fatal medical conditions (as in the case of Eddy Curry) is explicitly permitted under GINA. In the case of MLB, the result will depend, in part, on how the EEOC interprets the following pair of GINA’s definitions (from Section 201 of GINA). Again, the interpretive issue is whether “genetic information”, which may not be used for making employment decisions, covers the kind of testing in the MLB matter.
MLB Meets GINA
According to an article in today’s New York Times, Major League Baseball’s department of investigations is conducting genetic testing on certain Latin American prospects in an attempt to verify their reported ages. The Times reports that MLB has confirmed that it conducts genetic testing to confirm paternity/maternity “in very rare instances and only on a consensual basis to deal with the identity fraud problem that the league faces in [the Dominican Republic].” It appears that MLB is using paternity/maternity testing to verify identity by confirming that a particular prospect is in fact the child of the parents claimed on his birth certificate. MLB’s program appears to be the first publicly disclosed genetic testing program since the passage of the Genetic Information Nondiscrimination Act, or GINA as it is known, fourteen months ago.
This is not the first time that genetic testing in professional sports has made its way into the headlines. In 2005, the Chicago Bulls demanded that center Eddy Curry submit to a genetic test for Hypertrophic Cardiomyopathy (HCM). Despite playing in 72 games the prior season, Curry was diagnosed with an irregular heartbeat and an enlarged heart and the team insisted on the HCM test as a condition to extending his contract. Curry refused to take the genetic test and was ultimately traded to the New York Knicks, temporarily defusing the situation.
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U.K. House of Lords Issues Report on Genomic Medicine
On July 7, the Science and Technology Committee of the United Kingdom’s House of Lords issued its report on genomic medicine (pdf). The Report is optimistic about the potential long-term benefits of translating advances in genetics into substantial improvements in medical care but determines that the National Health Service (NHS) is not currently equipped to take advantage of this scientific revolution. The Report identifies existing institutional deficiencies and makes a variety of recommendations for improving the U.K.’s current system.
The following first summarizes key features and recommendations of the Report and then considers how the Report may influence legislative and regulatory developments in the United States, as well as in the U.K.
Part I: Recommendations for Genomic Medicine
At a hefty but still manageable 126 pages, the full Report is recommended reading for those interested in the field of genomic medicine in any country with a developed healthcare system. But for the sake of convenience, some of the highlights of the Report are summarized below.
