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FDA Authorizes Direct-to-Consumer Access for Multiple 23andMe Health Risk Tests

This article has been updated to clarify FDA's regulatory exemption plans for firms marketing similar tests. 

NEW YORK (GenomeWeb) – The US Food and Drug Administration has granted premarket authorization for 10 genetic health risk reports from consumer-focused testing company 23andMe.

The agency touted these as the first genetic tests for gauging disease risk that it has authorized for direct-to-consumer access — meaning that the consumer doesn't need a doctor's prescription to receive testing. The move came with special controls, or instructions, that allow 23andMe to sell similar tests DTC without having to submit them for premarket review, as long as the firm follows FDA's requirements for establishing safety and efficacy. Additionally, the agency is planning to outline in the Federal Register this same exemption for other firms, which would allow them to market similar health risk tests DTC. 

The authorized tests are for 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. 23andMe said it would begin releasing the health risk reports this month, and others will follow. Current 23andMe customers will be notified "on their eligibility" to receive these reports when they go live, and new customers will have access to them when they sign up for the health and ancestry testing service priced currently at $199.

When the FDA cracked down on 23andMe's ability to sell health-related genetic tests DTC in 2013, some in the life sciences space criticized the agency for getting between consumers and their right to their own genetic data. As a result of FDA's regulatory action 23andMe restricted its DTC service to selling tests for ancestry, traits, and other non-health related topics, but the agency has never restricted customers' ability to download their raw SNP data from the company. 

"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, in a statement. "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."

Previously, 23andMe was able to garner de novo 510(k) clearance for its Bloom syndrome test in 2015, which the agency issued with special controls. As with today's authorization, that clearance opened the way for 23andMe and other firms to offer the majority of carrier screening tests DTC without having to submit them for premarket review. 

In authorizing the 10 genetic risk reports, the FDA stated that it used the de novo premarket review pathway for new, low-to-moderate-risk devices that are not substantially equivalent to an already-marketed device. "These special controls, when met along with general controls, provide reasonable assurance of safety and effectiveness for these and similar [genetic health risk] tests," the FDA added.

The agency said it is planning to exempt other 23andMe health risk tests from the premarket review, and indicated that health-related tests for other markers may be able to forgo regulatory review after a company submits the first premarket notification for them. "A proposed exemption of this kind would allow other, similar tests to enter the market as quickly as possible and in the least burdensome way, after a one-time FDA review," the agency explained.

The latest market authorization, the FDA clarified, does not extend to diagnostic genetic tests that inform treatment decisions, such as hereditary cancer tests that analyze BRCA1 and BRCA2 genes, the results from which can lead women to have prophylactic mastectomies or oophorectomies.

In order to receive the latest authorizations, 23andMe submitted information from peer-reviewed studies that established the link between the genetic markers and disease risks; conducted studies that demonstrated its test could detect variants associated with the conditions; and showed that 90 percent of test users understood reported results.

The FDA noted that 23andMe's tests could yield false positive and false negative findings and advised against using the test results to inform medical decisions. "Users should consult a health care professional with questions or concerns about results," the agency said.

The FDA's approval comes at a time when the Trump administration has characterized the agency's regulatory processes as slow and burdensome to industry, and has indicated a desire to restructure the FDA's inner workings to speed up market access to medical products. 

"This is an important moment for people who want to know their genetic health risks and be more proactive about their health," 23andMe CEO Anne Wojcicki said in a statement. "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."