Is the ACCP’s Call for Greater Governmental Regulation of DTC Genetics Premature?

ReformAnother 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.

The ACCP recommends “the establishment of effective governmental oversight…soon” but does not specify exactly what that regulation should be. For instance, the position paper notes that CLIA certification of laboratories does not address the issue of clinical validation of genetic tests and that laboratory-developed tests (which includes most current DTC genetic tests) require no premarket review by the FDA. The FDA is already wrestling with this extremely complicated issue as it assess whether and how to regulate laboratory-developed tests employing multivariate index assays (pdf) (or IVDMIAs), but the statement offers no suggestions on how the FDA should balance the trade-offs inherent in such regulation.

One such trade-off is the difficult question of how to require clinical validity in the face of rapidly advancing knowledge without stifling innovation (a problem the ACCP’s position paper implicitly acknowledges). The statement’s clearest recommendation is that professional clinicians should be more involved in the process of communicating DTC genetic test results, particularly clinical or medical test results, thereby preserving “future utilization of pharmacogenetics testing to inform choices about medication use.” Few would argue the desirability of consumers receiving advice from appropriately trained clinicians, but there would be a lot of devil in the details of any attempt to dictate by law the scope of such involvement, including (i) distinguishing clinical or medical DTC genetic testing from recreational or informational testing and (ii) ensuring a supply of sufficiently trained professionals. The ACCP statement offers little assistance with those details.

The ACCP position statement is just the latest manifestation of a view that DTC genetic testing should be more highly regulated (see “In Search of a Coherent Framework: Options for FDA Oversight of Genetic Tests” (pdf) and the recently published House of Lords report on Genomic Medicine), with the most recent call to action coming from Genetic Alliance, which advocates a public, FDA-supervised registry of both DTC and laboratory genetic tests.

Most of the key players in the DTC genomics industry appear to at least agree on the need for self-regulation in the form of voluntary standards of conduct. 23andMe, deCODE, Navigenics, and others, as members of the Personalized Medicine Coalition, have proposed the development and communication of common standards regarding the scientific validity of genetic services available directly to consumers (pdf). And a recent study (the NIH Multiplex Initiative) of early adopters of genetic testing services similar to those provided by DTC companies found that those individuals “may be among the most motivated to take steps toward healthier lifestyles,” providing, as one reviewer puts it, “another reason to leave DTC gene-testing shops alone.”

The ACCP position paper raises several arguments in favor of state-supported or federally supported regulation in addition to improved industry self-regulation, including the risk that “poor consumer experiences [could] stigmatize[] the genetic testing field.” But what is missing from ACCP’s call for more robust state regulation is rigorous documentation of those “poor consumer experiences.” And it is missing because patient or consumer harms due to DTC genetic testing, although oft-alleged, have yet to be convincingly demonstrated. (Indeed, a common assumption of many in the medical community—that patients with incurable genetic diseases would be at risk of needless harm were they to be tested and confronted with their genetic status—has been called into question by a recent study suggesting that, at least in the case of Alzheimer’s disease, returning genetic test results to individuals does not cause any significant distress.)

Without convincing evidence of the harms of DTC genetic testing, it remains difficult to fully justify more rigorous governmental regulation, or to anticipate its content, structure or ultimate effect, which perhaps explains why such regulation continues to remain just over the horizon.