The U.S. Food and Drug Administration announced Thursday it is authorizing 23andMe to market its Bloom syndrome carrier test, a direct-to-consumer genetic test designed to identify whether or not an individual has a gene variant that may be passed on to their children leading to the serious disorder.
Along with the authorization, the agency is also categorizing carrier screening tests in general as class II and intends to exempt the devices from premarket reviews. The FDA will be issuing a notice to announce its intent to exempt carrier screening tests, providing the public with 30 days to comment on the issue. After assessing options, the agency arrived at the conclusion that this action offers the least troublesome regulatory path for carrier screening tests, easing the way for autosomal recessive tests and others to enter the market.
"The FDA believes that in many circumstances it is not necessary for consumers to go through a licensed practitioner to have direct access to their personal genetic information," said Alberto Gutierrez, Ph.D., Office of In Vitro Diagnostics and Radiological Health.
Carrier testing is generally done on people who don't show symptoms of a genetic disorder but pose the risk of passing it on to their children. For a genetic disorder to manifest, a child must receive two abnormal alleles of the disorder-associated gene, one from each parent. Carriers have one normal and one abnormal allele for the gene.
Like in other home tests, the FDA is requiring 23andMe to convey results in a manner easily understandable to consumers. The agency is not putting a limit on who can and cannot use the tests but wants the company to make sure that product labels will state what the results may mean for parents interested in genetic screening.
Additionally, 23andMe is required to provide consumers with information to guide them on where they access board-certified clinical molecular geneticists or equivalent individuals to assist them in counseling before and after undergoing carrier testing.
To assure the accuracy of their Bloom Syndrome carrier test, 23andMe carried out two independent studies, both of which showed the product was capable of producing results equivalent to what clinical tests would produce. The company conducted a usability study as well to demonstrate test instructions are easy to follow and results are easy to understand.
Bloom syndrome is a rare disorder leading to increased risks of cancer, short stature and a host of other health conditions. It affects about 1 in every 50,000, mostly those of eastern and central European Jewish origins.
