Why the State of Personal Genomics is Not as Dire as You Think
Another Tale of the Struggle of Personal Genomics, Full of Sound and Fury, Signifying…What? After a while, the personal genomics news cycle can begin to feel predictable. Recently, and not for the first time, there have been rumblings that personal genomics pioneer 23andMe is struggling. The most recent “news” appears to be a December SEC filing disclosing a $4 million payment to an unidentified 23andMe executive. Gene Expression and BNET have taken the opportunity to recycle some of the company’s previous financial struggles, including co-founder Linda Avey’s departure and a well-publicized round of fall layoffs, and to speculate broadly about the state of morale at the company in addition to the well-being of the personal genomics industry more generally.
Avey herself, perhaps unintentionally, has fueled speculation that something may be afoot with a pair of recent posts (the original post has now been combined with an update) on her own blog. Avey has launched a preemptive strike against what appears to be an upcoming New York Times piece that will “question[] the viability” of the personal genomics industry and “hits too close to home” for Avey not to comment. (Or, as GenomeWeb headlines it, Linda Avey Versus the New York Times.)
Perhaps all of the smoke signifies a smoldering fire at 23andMe. Then again, it may represent nothing more than periodic reverberations from the social media echo chamber, where common memes are repackaged and recycled at regular intervals.
deCODE Declares. Now What?
If you’re a regular reader of the Genomics Law Report – or the Wall Street Journal for that matter – by now you have probably heard the news: deCODE genetics, Inc. has filed for Chapter 11 Bankruptcy protection.
Given deCODE’s recent financial struggles, this latest development is hardly a surprise. Indeed, two months ago, we anticipated this very event when we asked a hypothetical question: “What Happens if a DTC Genomics Company Goes Belly Up?” That’s precisely the question that deCODE’s customers and creditors are asking today.
In our original article, which was initially published in three parts on September 14, 15 and 16 at Genetic Future, we looked at the interplay between the privacy policies of DTC genomics companies and the relevant bankruptcy law statutes, and offered some educated guesses as to how courts and companies would handle the sale of a bankrupt company’s sale of its customers’ genetic information.
The coming weeks will see that analysis tested in Delaware bankruptcy court. In the meantime, there is a lot to unpack in this morning’s deCODE announcement.
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The Open Secret of DTC Medical Genetic Testing
This is the third of four related posts analyzing 23andMe’s decision to separate its health and ancestry DTC genetic testing services. For more please see 23andMe’s New Game Plan: What it Means for the Company and for DTC Genetic Testing, A Fundamental Right to Genetic Information (Now More Expensive Than Before) and DTC Genomic Research: Revolution or Minor Uprising?
For well over a year, the DTC genetic testing industry in general, and 23andMe in particular, has been undergoing a shift in the way it characterizes and promotes its offerings. Where they once focused on the educational and recreational features of their services, DTC companies have rolled out an increasing array of tests and reports that appear unambiguously aimed at influencing their customers’ clinical or medical decision-making.
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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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).
The Scientific Foundation for Personal Genomics: Recommendations from the Joint NIH-CDC Workshop
Last December, some of the true heavyweights in the field of personal genomics convened for a two-day workshop cosponsored by the CDC and NIH to review the science and implementation of personal genomics. Participants included scientific luminaries (e.g., Francis Collins, George Church and Bob Green), personal genomics companies (e.g., 23andMe, Knome, Navigenics, deCODE Genetics and DNA Direct) and policy groups (e.g., Genetic Alliance, Personalized Medicine Coalition and Genetics and Public Policy Center). The workshop and its participants’ recommendations were summarized (pdf) late last month in the journal Genetics in Medicine.
The workshop focused on a review of the “scientific foundation for using personal genomics in risk assessment and disease prevention,” developing five specific recommendations for the future development and use of personal genomics.
1. Develop and implement scientific standards for personal genomics. Of primary importance was the development of scientific benchmarks for evaluating personal genomics testing. Heavily emphasized was the need to establish standards for measuring the clinical validity (how well a genetic variant identifies or predicts an individual’s clinical status) and clinical utility (the health and other benefits of a test balanced against its harms or costs) of personal genomics tests. The importance of voluntary industry guidelines (pdf), randomized clinical trials and economic analysis of personal genomics testing were all discussed.
Is the ACCP’s Call for Greater Governmental Regulation of DTC Genetics Premature?
Another player has entered the debate over direct-to-consumer (DTC) genetic testing and come down on the side of greater regulation. In a position statement authored by Barbara Ameer and Norberto Krivoy (pdf), the American College of Clinical Pharmacology (ACCP) proposes greater regulation of laboratory genetic tests generally, DTC advertising of genetic tests, and communication to consumers of genetic test results.
The ACCP’s position paper faults a number of features of the current regime: (i) the FDA does not require premarket review of laboratory-developed tests; (ii) even if conducted in CLIA certified laboratories, the clinical validity of laboratory-developed tests (which includes most DTC genetic testing) is not regulated; (iii) there is no regulatory oversight system for advertising of DTC genetic tests; and (iv) the communication of DTC test results is not mediated through a trained clinician. The ACCP fears that consumers are insufficiently protected in the current unregulated environment, with the result that “at a population level, these collective [negative] experiences may give future genetic testing a poor reputation, and it consequently may not be trusted by consumers.” The ACCP further cautions that the “inequitable regulatory policy regarding laboratory-developed tests [may stifle] innovation in the creation of validated genetic tests.” The position paper does not state, or offer any data suggesting, that any such stigma currently attaches to genetic testing or that innovation is being stifled.
New Fuel for the Genomic Privacy Debate
The growth of prominent genomics research and direct-to-consumer (DTC) commercial services that combine genomic data with phenotypic data, environmental data and personal health surveys continues to spur debate over the appropriate privacy safeguards and expectations for individuals who participate in such research or enroll in such services. From large-scale genomic research projects such as the Coriell Personalized Medicine Collaborative (pdf) and the UK BioBank to popular DTC genomics services such as those offered by Navigenics, many influential players in the public genomics space continue to strongly emphasize their commitment to absolute data privacy. Prominent skeptics, including geneticist George Church and lawyer and ethicist Hank Greely, argue that any such privacy promise is impossible to keep because of the inherent nature of such genomic data, particularly when paired with phenotypic data or other potentially personally identifying information.
Two recent developments may add further fuel to this debate. First, California recently issued a report on the first five months of results from a new state law (effective January 1, 2009) requiring health care organizations in California to report breaches in the security of personally identifiable health information. In publishing the report the California Department of Public Health was surprised at the high volume of reports and confirmed 116 privacy breaches during the five-month period, most of which were inadvertent. Given the early results, the agency expects the number of reported breaches to increase dramatically as organizations become more familiar with their reporting obligations.
Genomics and Personalized Medicine: Facts, Fiction, Future?
Over the weekend I took part in the 13th Conference on Genetics & Ethics in the 21st Century in Breckenridge, CO. The theme was “Genomics and Personalized Medicine, Facts, Fiction, Future?” Although the altitude (Breckenridge is at 9,600 ft) posed a problem for several participants, the conference otherwise went off without a hitch.
The program kicked off with a focus on the state of genetic and genomic knowledge with an excellent talk by Richard Gibbs of Baylor’s Human Genome Sequencing Center, who provided a progress report on the 1000 Genomes project and predictions for the future of large-scale genomics research. Penn State’s Kenneth Weiss followed with “Genetic Causation: A Fermi Problem” and presented a compelling challenge to the received wisdom of genetic heritability. Some of the most interesting discussion was driven by a question posed to Richard Gibbs: whether there are instances where the ethical, legal and social discourse surrounding genetics and genomics has either failed to keep pace with, or outstripped, the progress of science. Beyond a general consensus that Gattaca-style genetic prediction lies far beyond the horizon (if it will ever be possible), Gibbs seemed to think that on the whole the ELSI discussion was often out in front of the science, but not by an inappropriate distance. This topic provided fodder for considerable debate throughout the remainder of the conference.
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Navigenics Announces Clinical Partnership with Toronto’s Medcan Clinic
Genetic testing provider Navigenics has announced a partnership with the Medcan Clinic, a preventive healthcare clinic located in Toronto, Canada. According to the press release, Medcan will use a version of the Navigenics genotyping service, in combination with family history information, to offer patients an analysis of those “genetic risks that are clinically actionable, allowing patients to lower their risk through prevention strategies and more personalized screening.” The focus on clinically or medically actionable strategies is consistent with the approach taken by the Coriell Personalized Medicine Collaborative (CPMC), which is studying the effect of providing information on “medically actionable” genetic risk factors to its participants. (Interestingly, one of the conditions highlighted by the MedCan-Navigenics release is Alzheimer’s disease, which is not a medically actionable condition in the eyes of the CPMC.)
