First Consumer Genetic Health Risk Tests Get FDA Approval

The Food and Drug Administration (FDA) has approved marketing of 23andMe Personal Genome Service Genetic Health Risk (GHR) tests, making these the first direct-to-consumer tests authorized by the FDA to provide information on genetic predisposition for 10 diseases or conditions. While the GHR tests may provide genetic risk information, they cannot determine a person’s overall risk for developing a disease, as other factors beyond genetics (ie, environment, lifestyle) may also influence risk.

The tests work by isolating DNA from a saliva sample; this sample is then tested for >500,000 genetic variants. The test is able to provide risk information for the following health conditions: Parkinson’s disease, late-onset Alzheimer’s disease, celiac disease, alpha-1 antitrypsin deficiency, early-onset primary dystonia, Factor XI deficiency, Gaucher disease type 1, glucose-6-phosphate dehydrogenase deficiency, hereditary hemochromatosis, and hereditary thrombophilia.  

The approval of the 23andMe GHR tests was supported by data from peer-reviewed, scientific literature that demonstrated a link between specific genetic variants and each of the 10 health conditions.  In addition, the FDA looked at studies which showed that 23andMe GHR tests correctly and consistently identified variants associated with these conditions from saliva samples. Since these tests will be used by consumers, a user study was also conducted and showed that people were able to understand >90% of the information in these reports.

Consumers should be aware that false positives and false negatives are possible with these tests. The results of these tests should not be used for diagnosis or to inform treatment decisions. Moreover, GHR tests that function as diagnostic tests were excluded from the FDA’s marketing authorization.

For more information visit FDA.gov.