Direct-to-Consumer Genetic Testing Facing Fire

Consumer-based genetic testing has come under fire in recent months, prompting the Food and Drug Administration (FDA) to launch an investigation in June. While that investigation is not complete, information coming out of one federal agency and presented to a Congressional panel points to preliminary tests showing faults in over-the-counter and direct-to-consumer DNA tests.

Earlier this year, Pathway Genomics partnered with CVS/Walgreens to market an over-the-counter genetics test based on saliva. Consumers could pick up the kit and mail it in, paying an additional fee based on the extent to which they wanted their DNA tested. The over-the-counter version never quite made it to the consumer, as there was public concern over the reliability of the tests and how people might interpret them.  At this point the FDA jumped into the fray and expressed concern.

The FDA requested that five companies provide data that their diagnostic tests present scientific evidence that a test result, either positive or negative, is linked to a disease or the risk of one. They also want the companies to seek regulatory approval for the tests, although the companies maintain that this was not a necessary step to bringing the product to market.

The Government Accountability Office conducted an undercover investigation of the genetics tests, purchasing ten tests from four direct-to-consumer genetic tests companies—23andMe, deCode Genetics, Pathway Genomics, and Navigenics. Five staff members sent two DNA samples to each company; one with his or her real personal and medical information, and one with faux identifying and medical information.

Results varied markedly between companies and some information contradicted already diagnosed health conditions. Amongst the small sampling, the tests produced inconsistent results for the same disease 68 percent of the time.

The FDA is planning to ramp up its regulation of genetic testing companies, said Jeffrey Shuren, M.D., director of the FDA's Center for Devices and Radiological Health.