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It is clear that consumers, and many geneticists and medical professionals, underestimate the complexity of genetically determined diseases and their risk levels as measured by genomic testing. The question is whether it is ethically sound to sell consumers packaged DNA tests that could exaggerate their risk for say, heart disease, or render a false negative result. In one study, DTC testing on average handed out very slight risk factors across the board, lower than those known to be in the general population. Another study, the first of its kind, performs an experiment comparing traditional genetic screening by counselors to "insta-testing" by Navigenics. It looks like the technology of DTC has a long way to go, while our understanding itself of genetically inherited disorders is still in a rudimentary stage of development. Rather than exploring new sites and new tests the emphasis needs to be on interpreting the studies and data we already have.

Direct-to-consumer genetic testing services: what are the medical benefits?

Thierry Frebourg

Eur J Hum Genet 2012 20: 483; advance online publication, January 4, 2012; 10.1038/ejhg.2011.229

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