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.
Regulating Advertising Practices of DTC Genetic Testing Companies?
The Genetics & Public Policy Center (GPPC) has commissioned a 50 state survey of “laws that could potentially be used to protect consumers against unfair or deceptive trade practices by DTC genetic testing companies.” You can see the full survey here (pdf) or you can jump directly to the conclusion: “The survey reveals that while all states have general consumer protection statutes, none has laws that directly address genetic testing.”
This conclusion comes as no surprise given the reality that, from railroads to the internet to consumer genomics, scientific and technological innovation inevitably outpace the corresponding and often necessary legal and regulatory response. Odds are that if the GPPC updates its survey eighteen months from now the results will be materially different.
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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