The Food and Drug Administration (FDA) has allowed marketing of 23andMe’s Personal Genome Service Genetic Health Risk (GHR) tests for 10 diseases or conditions—making this the latest milestone in 23andMe’s comeback since 2013, when it received an order from FDA to stop selling its health-related genetic tests. These GHR tests are the first direct-to-consumer (DTC) tests authorized by FDA that provide information on an individual’s genetic predisposition for medical conditions, and are intended to help consumers to make decisions about lifestyle choices or inform their discussions with healthcare professionals. However, the tests cannot determine a person’s overall risk of developing a disease or condition.
The 23andMe GHR tests work by isolating DNA from a saliva sample, which is then tested for more than 500,000 genetic variants. The presence or absence of some of these variants is associated with an increased risk for developing any one of the following diseases or 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.
FDA reviewed data for the 23andMe GHR tests through the de novo premarket review pathway, and is also establishing special controls intended to provide reasonable assurance of safety and effectiveness for these and similar GHR tests. In the future, FDA intends to exempt additional 23andMe GHR tests from premarket review, and GHR tests from other companies could also be exempt after a company submits its first premarket notification. However, any exemptions for GHR tests will not include those that function as diagnostic tests such as genetic tests for BRCA.