FDA announces new market pathway for genetic health risk tests

By Jonah Comstock
04:45 pm

FDA Commissioner Scott Gottlieb announced today that the agency intends to make a major change to its regulatory process around direct-to-consumer genetic health risk (GHR) tests. Specifically, the agency is creating a framework that will allow companies to bypass premarket certification for individual tests once they submit to a one-time review of their processes, an approach reminiscent of the FDA's new pre-certification program for medical devices.

"Today, the FDA is taking steps to implement a novel regulatory approach for the regulation of GHR tests that applies proper oversight in a flexible, new way," Gottlieb wrote in a statement. "It builds on the important lessons we learned from the FDA’s authorization of the first GHR and carrier screening tests sold directly to consumers."

Gottlieb's allusion is likely to the FDA's tumultuous relationship with consumer genetic testing pioneer 23andMe. That company halted its US health-related offerings for two years after a very public rebuke from the agency (it continued to offer ancestry tests and to sell health tests in other countries during that time).

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"Specifically, today the agency issued a notice of its intent to allow GHR tests to be exempted from premarket review under certain conditions." Gottlieb wrote. "If and when finalized, manufacturers of these types of tests would have to come to FDA for a one-time review to ensure that they meet the FDA’s requirements, after which they may enter the market with new GHR tests without further review. The agency also established special controls for these tests in a separate de novo classification order, which outline requirements for assuring the tests’ accuracy, reliability and clinical relevance and describe the type of studies and data required to demonstrate performance of certain types of genetic tests."

One problem 23andMe ran into was that much of the value of its product lay in offering users a comprehensive test for many different health risks, but the FDA required a separate regulatory clearance for each screening, which proved a financial and logistical hardship for the company.

In fact, Dr. Jeffery Shuren, director of the FDA’s Center for Devices and Radiological Health, alluded to this policy change back in April when the FDA cleared 23andMe's genetic health risk test.

“By establishing special controls and eventually, a premarket 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," he said at the time.

In his statement, Gottlieb acknowledged that direct to consumer genetic tests "don’t fit squarely into our traditional risk-based approach to device regulation" and that inaccurate tests do pose real risks to patients: for instance, a patient might stop eating well or exercising if a test tells them they're not at risk for heart disease. Or it could cause a someone to ignore early warning signs of Parkinson's disease or cancer.

Bradley Merrill Thompson, an attorney with Epstein Becker Green who specializes in the FDA's regulation of digital health, said the approach is intriguing, especially considering that the agency is still in the early stages of the pre-cert program.

"Such tests do present special challenges, but also significant opportunities," he wrote in an email to MobiHealthNews. "If used appropriately, such tests, if widely accessible, may cause people to live healthier lives, choosing better diets and getting more exercise if they realize they are at risk. The FDA notes some of the risks that are present if the tests provide inaccurate information. They particularly focus on false negatives, but false positives also carry problems by increasing anxiety."

Certainly the timing is right; as MobiHealthNews noted in a feature piece last year, the market for direct-to-consumer genomics has exploded of late, even if questions remain about the technology's usefulness and accuracy.

"We will really have to wait and see what the real world experience is with this new program, but frankly I'm tickled that FDA is trying to think so creatively," Thompson added. "We really do need fresh thinking, and the agency is clearly willing to consider ideas well outside the traditional box."


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