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Genetics of common disease: a primary care priority aligned with a teachable moment?

We do indeed live in interesting times. Through genome-wide association studies, the Human Genome Project and the related HapMap project are finally yielding dividends related to the genetics of common disorders with great public health import. Not surprisingly, the rush is on to capitalize on these discoveries. Over the last several months, three companies (Navigenics, Inc., deCODE genetics and 23andMe, Inc.) have each announced the availability, direct to consumers, of reasonably low-cost pan-genome testing for markers thought to be predictive of traits and disorders ranging from earwax type to coronary artery disease. Each company has taken a slightly different approach to enhancing their customer's understanding of their genome. Navigenics, Inc., for example presents a more “medical” service, focusing on disease risk estimates, whereas 23andMe, Inc., appears to be taking a more “recreational” tack, with an emphasis on ancestry and the ability to follow traits in users' families. A fair amount of ambiguity exists in the science underlying many of the trait-marker associations that serve as a basis for each company's services, especially in diverse racial and ethnic populations. Perhaps more importantly, there is a virtual abyss regarding how (or whether) such information should be applied in clinical medicine. Each of these applications has a default suggestion when ambiguity rears its ugly head: ask your health care provider for more information.