Direct-to-consumer genetic tests: beyond medical regulation?

A new era in commercial, personalized genomics was heralded when several companies in the United States, including 23andMe, deCODEme, SeqWright and Navigenics, began offering 'direct-to-consumer' genomic testing [1]. Some companies test genetic risk for specific diseases, for example Smart Genetics' service for Alzheimer's disease. Other companies offer advice on the basis of genetic risk factors and then provide nutritional and other supplements. Early adopters, including some journalists who reported on their own experiences getting these tests, favorably described 'discovering' risk factors that they should be concerned about and the feeling of relief about being unaffected by other factors [2-4]. One author discussed his family history of heart disease and the realization, thanks to 23andMe, that his genes made him less likely than average to have heart disease [2]. But was his interpretation of the test results correct? Family history captures information about inherited risks in a particular family, whereas genome-wide association studies identify population averages and thus generally give a less accurate assessment of risk than is given by family history. How personal are personal genomics tests, and is the validity of these tests good enough for them to be ready for general use by consumers to inform medical decisions? And, given the complexity of genomic information and the potential for misinterpretation, how, if at all, should this kind of direct-to-consumer testing be regulated?Federal regulation of genetic tests in the US is minimal, being largely confined to approval by the Food and Drug Administration (FDA) of test kits and very complex multi-gene indicators, as well as quality control of laboratories performing tests that are used "to assess patient health and inform medical decisions" through the Clinical Laboratory Improvement Amendments (CLIA). Proficiency testing required by CLIA does not include standards specific to DNA-based genetic tests [5,