Personal genetics company 23andMe has received approval from the US Food and Drug Administration (FDA) for its Personal Genome Service, claimed to be the first direct-to-consumer genetic test.
The Personal Genome Service genetic test 510(k) submission for Bloom Syndrome Carrier Status test report has been assessed through the de novo regulatory pathway.
23andMe CEO and 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."
The company carried out extensive comprehension studies with consumers from different backgrounds, education levels and incomes.
An accuracy study was conducted at two lab sites with seventy samples, including sixty-five saliva samples and five human cell line samples with known BLMAsh variant status.
PGS test results for Bloom Syndrome have been compared with sequencing results, while the study results provided an agreement of 70 out of 70 samples.
A total of 2,880 sample replicates were run under standard 23andMe laboratory procedures, for the validation study, and an additional study was performed using 105 saliva samples without the BLMAsh variant.
These samples have been tested by comparing results between the two 23andMe laboratory sites, and a user comprehension study was carried out to assess how well people understand the PGS Bloom syndrome carrier status test reports.
The company noted that around 90% of participants indicated they understood the test results, in all the studies.