Today I attended a forum on genetic testing for the Massachusetts General Hospital’s weekly Breast Rounds (I do research in breast oncology at the MGH). This week’s lecture, presented by Joseph D. McInerney, the Director of the National Coalition for Health Professional Education in Genetics, considered various aspects of the new wave of direct-to-consumer genetic testing. Genetic testing for specific gene markers1 has been available for many years, and the results are primarily used by doctors and genetic counselors to determine the relative risks of disease onset and/or recurrence. This information allows the healthcare team to plan a course of treatment or preventative measures for a patient under supervised, knowledgeable care.

However, unlike “traditional” genetic testing, the professional health world does not filter this new era of direct-to-consumer genetic testing before it reaches the “consumers” (read: patients). Sites such as 23andMe.com and Navigenics.com advertise that anyone can obtain a complete genetic profile for as little as $999, which will outline propensity for certain diseases, among other recreational identifiers, like food preference. A most important note about these sorts of health-related tests: the FDA does not regulate them, because they are not technically a “medical device,” nor a medication.

Sarah Gollust et al. write of the risks of such advertised D.T.C. genetic tests in the Journal of the American Medical Association:

… 3 factors limit the value and appropriateness of advertisements: complex information, a complicated social context surrounding genetics, and a lack of consensus about the clinical utility of some tests. Consideration of several advertisements suggests that they overstate the value of genetic testing for consumers’ clinical care. Furthermore, advertisements may provide misinformation about genetics, exaggerate consumers’ risks, endorse a deterministic relationship between genes and disease, and reinforce associations between diseases and ethnic groups. Advertising motivated by factors other than evidence of the clinical value of genetic tests can manipulate consumers’ behavior by exploiting their fears and worries. At this time, DTC advertisements are inappropriate, given the public’s limited sophistication regarding genetics and the lack of comprehensive premarket review of tests or oversight of advertisement content. Existing Federal Trade Commission and Food and Drug Administration regulations for other types of health-related advertising should be applied to advertisements for genetic tests.2

At today’s lecture, Joseph McInerney also spent a good deal of time discussing that most physicians, if presented with a whole array of genetic tests obtained by a patient through these private services, will have little to offer in terms of counseling for the patient. Physicians today are simply not trained to analyze and act on the innumerable types of genetic tests available. The bottom line is that the public — patients and doctors — should be weary of such dubious, overarching claims to offer complete, accurate information about risk by direct-to-consumer genetic testing services, because few people (doctors, included) are actually qualified to interpret the results.

For an excellent summary of the issues surrounding DTC genetic testing, see this article, by Shawna Williams of the Genetics and Public Policy Center.

Footnotes:

(1) In the breast oncology world, physicians consider BRCA 1 and 2 mutations, and/or results from the OncotypeDx assay.
(2) Limitations of Direct-to-Consumer Advertising for Clinical Genetic Testing, JAMA, 2002.