Policy 3 min read

FDA Ruling Makes Direct-to-Consumer Genetic Tests More Accessible

Agency approvals will be given on a company basis, rather than by test.

By Kelsey Kennedy featured image Luchschen / Getty Images

Consumers are likely to see more genetic health risk tests on the market due to a new approval system announced by the Food and Drug Administration (FDA) on Monday.

Now, test manufacturers, such as 23andMe and Pathway Genomics, will only need to apply for approval of their companies and not the individual tests they produce. If companies meet the FDA’s requirements, they can send new genetic tests to market without additional review.

But the change in regulations does not change the concerns doctors have about these tests.

“This initial wave of tests are tests that most people in the healthcare system would not offer to their patients because they’re not adequately understood,” says Michael Watson, executive director of the American College of Medical Genetics and Genomics. Without continued oversight from the FDA, he says, tests “could easily move into the diagnostic realm.”

“Carrier states can be associated with having disease, so they essentially function diagnostically,” says Watson. There isn’t enough data to make a prediction of whether a positive result for a gene variant will always result in disease. Watson says that’s because we understand how these variants work in patients with symptoms of a disease, but we know far less about how they work in patients who show no signs of disease at all.

This new system marks a loosening of the FDA’s regulatory grip. Since 2013, genetic testing companies have had to apply for approval for individual tests. That year, the FDA, ­citing concerns over false results and consumer safety, forced 23andMe to stop marketing its consumer test that reported on the risks of developing 254 different diseases and conditions. The FDA then classified genetic health risk tests as medical devices and subjected them to a stringent approval process.

But in 2015, the FDA allowed 23andMe to start selling a genetic carrier test for 36 hereditary conditions, including cystic fibrosis and sickle cell anemia, aimed at parents worried about passing on serious genetic disorders to their children. The company cleared another hurdle in April this year, when the FDA approved a panel of tests estimating the risk of developing 10 diseases, including Parkinson’s disease and late-onset Alzheimer’s disease. The decision was based on studies demonstrating the tests’ accuracy and consistency, and 23andMe’s user-friendly reports.

In its April announcement of 23andMe’s test approval, the FDA said it intended to eventually offer an exemption to the company from premarket review for future genetic health risk tests. Diagnostic tests, however, will still need to be approved by the agency. Monday’s announcement formalizes this promise.

“Our goal is to streamline the regulatory pathway to get innovative medical products to people more efficiently, while providing the FDA assurances that consumers seek,” said FDA Commissioner Scott Gottlieb in a statement. The agency will “continue to look for opportunities to use this type of firm-based regulatory approach, both for new tests and other novel medical products.”

The new system for genetic tests is similar to a recently announced pilot program for digital health technology, such as apps. The changes seek to address the differences between new technology and the medical devices the FDA has traditionally evaluated, Gottlieb explained. They will also allow for more consumer genetic tests to hit the market as demand for more medical information increases.

“I favor people having information about themselves,” Watson says, but he adds that companies and doctors need to make sure they’re delivering the right information. “It’s a Catch-22.”