FDA OK's 23andMe genetic tests, prompting concerns
- Personal genetics company 23andMe has been granted approval by the Food and Drug Administration to market Personal Genome Service Genetic Health Risk (GHR) reports on personal risk of 10 conditions, including late-onset Alzheimer’s disease, Parkinson’s disease, Celiac disease and hereditary thrombophilia.
- The tests have gone through the FDA's de novo pre-market review pathway, and gains exemption from pre-market review for future GHR tests.
- The first set of GHRs will be launched this month, with others to follow. These tests cannot be used for diagnosis, but could give consumers more information about their predisposition to certain conditions. The tests work by isolating DNA in a saliva sample and testing for over 500,000 genetic variants.
Back in 2013, the FDA sent a warning letter to 23andMe CEO and Co-founder Ann Wojcicki stating that the company was "marketing the 23andMe Saliva Collection Kit and Personal Genome Service (PGS) without marketing clearance or approval in violation of the Federal Food, Drug and Cosmetic Act."
This service included assessments for BRCA-related genetic risk and drug responses (e.g., warfarin sensitivity, clopidogrel response, and 5-fluorouracil toxicity), and the company saw this level of health-related genetic risk data as unproven, and as potentially risky because of decisions that could be taken based on false positives or negatives. The authority therefore demanded that the company stop giving out health data until it got proper clearance.
Over the next two years, 23andMe and the FDA worked together and the PGS service was relaunched in 2015 to provide carrier status reports. This new approval gives the company the go-ahead to provide genetic health risk (GHR) reports direct-to-consumers.
"This is an important moment for people who want to know their genetic health risks and be more proactive about their health," said Wojcicki. "The FDA has embraced innovation and has empowered individuals by authorizing direct access to this information. It is a significant step forward for 23andMe and for the adoption of personal genetics."
The Personal Genome Service Genetic Health Risk (GHR) reports are based on DNA from saliva samples and look at over 500,000 genetic variants linked with ten diseases and conditions: Parkinson’s disease; late-onset Alzheimer’s disease; celiac disease, a disorder resulting in the inability to digest gluten; alpha-1 antitrypsin deficiency; early-onset primary dystonia; factor XI deficiency; Gaucher disease type 1; glucose-6-phosphate dehydrogenase deficiency (G6PD); hereditary hemochromatosis; and hereditary thrombophilia.
One of the challenges will be communicating to the public the concept of risk, because the tests show genetic predisposition. The presence or absence of the genetic changes only play a part and do not signal that people definitely will or definitely won't develop the condition, because other factors are involved such as environmental and lifestyle factors.
"Consumers can now have direct access to certain genetic risk information," said Jeffrey Shuren, director of the FDA’s Center for Devices and Radiological Health. "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."
Tests can also throw up false positive and false negative results and the FDA emphasizes that "results obtained from the tests should not be used for diagnosis or to inform treatment decisions. Users should consult a health care professional with questions or concerns about results." This approval and any future related exemptions do not include any diagnostic tests.
To ease the ability of 23andMe to add additional GHR tests, the FDA will exempt these from pre-market review, and may also offer this to GHR tests from other makers.
"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," said Shuren. "By establishing special controls and eventually, a pre-market 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."
Follow Suzanne Elvidge on Twitter