US Food and Drug Administration (FDA) has granted approval for marketing 23andMe‘s Bloom Syndrome carrier test, a direct-to-consumer (DTC) genetic test to determine whether a healthy person has a variant in a gene that could lead to their offspring inheriting the disorder.
The company’s Personal Genome Service 510(k) submission for this test report was assessed through the de novo regulatory pathway.
The FDA determined the company’s submission did not have an applicable predicate device, and converted it to a de novo request. The agency took the further step to downclassify carrier status tests for autosomal recessive disorders.
Along with this authorisation, the FDA is classifying carrier screening tests as class II, and intends to exempt these devices from FDA premarket review.
The FDA also plans to issue a notice that announces the intent to exempt these tests, which provides a 30-day period for public comment, and creates the least burdensome regulatory path for autosomal recessive carrier screening tests with similar uses to enter the market.
The company said it will not immediately start returning Bloom syndrome carrier status test results or other health results to customers until it completes the regulatory process for additional test reports, and can offer a more comprehensive product offering.
23andMe co-founder Anne Wojcicki said: "This is a major milestone for our company and for consumers who want direct access to genetic testing.
"We have more work to do, but we remain committed to pursuing a regulatory path for additional tests and bringing the health reports back to the US market. This important first step would not have been possible without the hard work and guidance of the FDA."
In order to demonstrate their test is accurate in detecting Bloom syndrome carrier status, the company conducted two separate studies.
In one study conducted at two laboratories a total of 123 samples were tested, including samples from known carriers of the disease, while the other study evaluated 105 samples at two additional laboratories.
The two studies showed equivalent results in detecting carrier status of Bloom syndrome when the same samples were tested.
A usability study was also conducted with 295 people not familiar with the 23andMe saliva collection device to show consumers could understand the test instructions, and collect an adequate saliva sample.
The company also conducted a user study of 302 randomly recruited participants representing the US general population in age, gender, race and education level.
According to the company, in all the studies, more than 90% of participants indicated they understood the test results.
The company’s Personal Genome Service (PGS) Carrier Screening Test for bloom syndrome is indicated to detect the BLMAsh variant in the BLM gene from saliva collected using an FDA cleared collection device.