FDA Grants Marketing Authorization for Personal Genetic Risk Tests

The FDA has approved marketing for 23andMe Personal Genome Service Genetic Health Risk (GHR) tests, the first direct-to-consumer tests that analyze DNA from users’ saliva samples to calculate their genetic predisposal for the following 10 diseases and 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
  • hereditary thrombophilia

The FDA’s decision was supported by an analysis of peer-reviewed literature establishing a strong link between genetic variants and the 10 conditions included on the test. Data were reviewed through the FDA’s device premarket review pathway, which regulates low- to moderate-risk devices while simultaneously establishing criteria (“special controls”) to ensure accuracy, reliability, and clinical relevance in the testing.

In 2013, the FDA warned the manufacturers of the GHR test to discontinue marketing the test kit. The marketing materials stated that the device was intended for use in the diagnosis and prevention of diseases and disorders, but doing so before the FDA had the opportunity to review the statements, the manufacturer was in violation of the Federal Food, Drug, and Cosmetic Act. In response, the manufacturer reconfigured their testing platform and worked with the FDA to design trials that would assess its health-related claims.

In a press release announcing the decision, Jeffrey Shuren, MD, director of the FDA’s Center for Devices and Radiological Health, noted that “consumers can now have direct access to certain genetic risk information, but it is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won’t ultimately develop a disease.”

The FDA cautioned that results from testing should still be monitored by a health-care professional because of the risk associated with the test, including false-positive and false-negative findings.

Source: U.S. FDA press release, April 6, 2017.