FDA intends to exempt carrier screening genetic tests from premarket review

FDA announced it intends to exempt genetic carrier screening tests from FDA’s premarket review requirements and has authorized the marketing of 23andMe’s genetic carrier test for Bloom Syndrome.

The Agency will issue a notice of its intent to exempt such genetic tests with a 30-day period for public comment.

The Bloom Syndrome carrier screening test is a direct-to-consumer (DTC) genetic test to determine whether a healthy person has a variant in a gene so that the offspring could inherit the Bloom Syndrome. A carrier is a person who has inherited one normal and one abnormal version (allele) of a gene associated with the Bloom Syndrome. A child must inherit two abnormal alleles, an abnormal copy from each parent, for the symptoms to appear.

Similarly as with other over-the-counter home-use-tests for medical purposes, such as pregnancy and HIV tests, the FDA requires 1) for the results to be conveyed in a way the consumers can understand and use, and 2) for information to be provided about how consumers can access a board-certified clinical molecular geneticist, or equivalent, to assist in pre- and post-test counseling.

FDA previously halted 23andMe’s PGS offering an array of genetic tests

Through a Saliva Collection Kit and Personal Genome Service (PGS), 23andMe once had offered an array of genetic tests, which it marketed as “health reports on 254 diseases and conditions,” including categories such as “carrier status,” “health risks,” and “drug response,” and specifically as a “first step in prevention” that would enable users to “take steps toward mitigating serious diseases” such as diabetes, coronary heart disease, and breast cancer.

But FDA ended that when it issued a 2013 Warning Letter to 23andMe which made clear that because PGS services were intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease, 23andMe was required to obtain a premarketing clearance from FDA under the Federal Food, Drug and Cosmetic Act.

Without the requisite clearance to assure PGS’s tests were accurate, reliable and clinically meaningful, FDA directed 23andMe to stop selling the product.

The Bloom Syndrome carrier test now authorized by the FDA was one of the array of genetic tests previously marketed for and offered through PGS.