The FDA has given permission for 23andMe to market its Personal Genome Service Genetic Health Risk (GHR) tests for 10 diseases. These are the first direct-to-consumer (DTC) tests authorized by the FDA that provide information on an individual’s genetic predisposition to certain medical conditions.
The 10 conditions are:
Late-onset Alzheimer’s disease
Alpha-1 antitrypsin deficiency
Early-onset primary dystonia
Factor XI deficiency
Gaucher disease type 1
Glucose-6-Phosphate Dehydrogenase deficiency
The GHR tests provide genetic risk information to consumers, but the tests cannot determine a person’s overall risk of developing a disease or condition.
The 23andMe GHR tests isolate DNA from a saliva sample and test more than 500,000 genetic variants.
FDA’s review of 23andMe’s GHR tests included data from peer-reviewed, scientific literature that demonstrated a link between specific genetic variants and each of the 10 health conditions. The FDA also reviewed data demonstrating that 23andMe GHR tests correctly and consistently identified variants associated with the 10 indicated conditions or diseases from a saliva sample.
More Tests to Come?
In a news release
, the FDA noted they are establishing criteria, called special controls to clarify the agency’s expectations in assuring the tests’ accuracy, reliability and clinical relevance.
Jeffrey Shuren, M.D., director of the FDA’s Center for Devices and Radiological Health said, “The special controls describe the testing that 23andMe conducted to demonstrate the performance of these tests and clarify agency expectations for developers of other GHRs” Dr. Shuren added, “By establishing special controls and eventually, a premarket review exemption, the FDA can provide a streamlined, flexible approach for tests using similar technologies to enter the market while the agency continues to help ensure that they provide accurate and reproducible results.”
These are NOT Diagnostic Tests
To be clear, the 23andMe GHR tests help determine if a person is at risk for a given disease but they are not diagnostic tests. The FDA noted that diagnostic tests are often used as the sole basis for major treatment decisions, such as a genetic test for BRCA, for which a positive result may lead to prophylactic (preventative) surgical removal of breasts or ovaries. That is not the case with the GHR tests.