The US Food and Drug Administration (FDA) on Monday detailed its plans to make it easier for companies developing direct-to-consumer (DTC) genetic health risk (GHR) tests to get those tests on the market.
To do so, FDA is proposing a model similar to a pilot for digital health products, by which companies can be pre-certified to market low-risk software-based devices following an assessment of their systems for software design, validation and maintenance.
Similarly, FDA says it plans to exempt DTC GHR tests from premarket review if their developers meet a set of special controls detailed in the Federal Register for their testing systems.
The special controls include labeling and testing requirements and stipulate that GHR tests cannot be indicated for prenatal testing; determinations that could lead to screening, confirmatory procedures or treatments for cancer; predicting drug response; or assessing the presence of deterministic autosomal dominant genetic variants.
"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," FDA Commissioner Scott Gottlieb said.
In addition to the proposed one-time review for GHR tests, FDA also announced that it is exempting genetic carrier screening tests and tests to evaluate vitamin D levels from premarket review requirements.
The announcements come after years of back and forth between FDA and genetic test developers, most notably 23andMe, who in 2013 was warned by the agency for marketing its DNA testing service to predict carrier status, health risks and drug response for some 250 diseases and conditions without receiving clearance from the agency.
Following the 2013 warning letter, 23andMe stopped marketing its testing service for health risks and instead provided only ancestry reports and raw data to consumers that ordered the test.
In 2015, FDA authorized 23andMe to sell a the first DTC test to tell whether a person carries a gene for Bloom Syndrome, a rare autosomal recessive blood disorder affecting 1 in 50,000 people of Ashkenazi-Jewish descent.
Then in April 2017, FDA authorized 23andMe to market its GHR test directly to consumers to tell whether an individual has genetic variants that are associated with an increased risk for 10 diseases, including Parkinson's disease, late-onset Alzheimer's disease, celiac disease and factor XI deficiency.
At the time, FDA said it intended to exempt additional 23andMe GHR tests from premarket review, and that it planned to allow other GHR test developers to follow a similar path to market, which Monday's announcement would enable.