FDA approves 10 consumer genetic risk tests

The Food and Drug Administration has approved for marketing the first direct-to-consumer genetic profile tests that consumers can use to learn if they have a genetic predisposition to any of 10 particular medical diseases or conditions.

The genetic health risk (GHR) tests are available from the 23andMe personal Genome Service. The market approval means consumers can have access to certain genetic risk information, but test results don’t indicate with certainty that a person will or will not eventually develop a disease, according to Jeffrey Shuren, MD, director at the FDA Center for Devices and Radiological Health.

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The tests use DNA from a saliva sample and test for more than 500,000 genetic variants. While approving consumer use, FDA did establish criteria for expectations in tests’ accuracy, reliability and clinical relevance. Further, the agency is reducing some regulations for genetic testing companies that have proven themselves.



“The FDA intends to exempt additional 23andMe GHR tests from the FDA’s premarket review, and GHR tests from other makers may be exempt after submitting their first premarket notification,” the agency notes.

The goal is to enable similar tests to enter the market quickly in the least burdensome way after the one-time review. However, these new allowances in the genetic testing market do not include GHR tests that function as diagnostic tests.

FDA cautions that test results carry risks of false findings, and consumers with questions or concerns about a finding should consult with a healthcare professional.

Ross Koppel, adjunct professor of sociology at the University of Pennsylvania, sees value in the consumer tests, but he says there are also many concerns.

A consumer could take a test with findings indicating a 0.2 percent higher probability of disease in a chromosome and worry, then take another test and find a 0.2 percent lower probability in another chromosome and be confused. “These are potentially powerful findings that require a knowledge of medicine to correctly interpret,” he says. “We have to be careful; people could be wasting a lot of time and money.”

The tests can be valuable and worthwhile, Koppel believes, especially if an individual is worried about hereditary traits and gets a test result that could raise valid concerns. He counsels users to recognize the level of their own knowledge and talk with a physician about any questions or concerns.

The ten approved tests include: Parkinson’s (impacting movement); late-onset Alzheimer’s (brain disorder); celiac disease (gluten disorder); alpha-1 antitrypsin deficiency (lung/liver disease); early onset primary dystonia (movement disorder); factor XI deficiency (blood clotting); Gaucher disease type 1 (organs and tissues); blucose-6-phosphate dehydrogenase deficiency (red blood cell condition); hereditary hemochromatosis (iron overload); and hereditary thrombophilia (blood clot disorder).