FDA to Permit Marketing of Direct-to-Consumer Tests for Genetic Health Risks

In a reversal of previous policy, the FDA has announced it will allow the genetic testing company 23andMe to market its DNA tests directly to consumers.

In its announcement regarding the tests, which are designed to help individuals learn if their genetics put them at risk of developing disease, the FDA outlined the regulatory details of its decision. The data supporting these tests was evaluated through the de novo premarket review pathway, which assesses applications for novel devices that pose low-to-moderate risk to consumers. The risks include finding false positive or false negative results, which led the agency to include a note of caution to potential users.

“Consumers can now have direct access to certain genetic risk information,” said Jeffrey Shuren, MD, director of the FDA’s Center for Devices and Radiological Health, in the announcement. “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 fear that consumers will misinterpret the test results led to the FDA's 2013 decision to bar marketing of 23andMe’s tests. The agency said at that time that 23andMe had not shown that the tests were accurate and that customers understood the results, according to The New York Times. Those criteria will still apply to the tests that the startup and other genetic testing companies sell going forward. The FDA is calling them special controls, which “when met along with general controls, provide reasonable assurance of safety and effectiveness” for the tests.

The tests work by analyzing DNA from a saliva sample for genetic variants associated with a higher risk of developing 10 diseases, including Parkinson’s disease, late-onset Alzheimer’s disease, and celiac disease. The FDA’s announcement cautioned that users should not interpret the results as a diagnosis or a basis for making treatment decisions, but acknowledged a study that found the tests’ directions and reports were easy to follow and that users understood over 90% of the content in the reports.

The announcement noted that diagnostic genetic tests are “excluded from today’s marketing authorization and any future, related exemption.” Examples of diagnostic tests include the test for the BRCA mutation, which some women have used to decide whether to undergo preventive mastectomies or other surgeries to lower their risk of cancer.

A notable figure who had previously argued against the FDA’s prior policy on 23andMe’s tests is Scott Gottlieb, MD, who is now poised to lead the agency pending Senate confirmation. In 2013, the American Enterprise Institute published Gottlieb’s take on the ban, which was titled “FDA fear of the printed word threatens our health.” In the article, he dismissed the FDA’s concerns about patients overreacting to test results as unfounded and called the “sweeping regulatory rules” careless, unscientific, and possibly unconstitutional.

“The agency is trying to regulate mental responses to the data supplied by the tests — how others interpret or decide to act on accurate science,” Gottlieb wrote. “Dodging the First Amendment requires more than loose speculation about the possibility that the molecular scripts of life are too subtle and important to be read with impunity by the masses.”

This week, 23andMe reinforced the idea that consumers have the right to interpret their own genetic code as it heralded the FDA’s decision as a substantial step towards a more patient-centered approach to the field of genetics.

“This is an important moment for people who want to know their genetic health risks and be more proactive about their health,” said Anne Wojcicki, chief executive officer and co-founder, in a press release. “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.”