The U.S. Food and Drug Administration has announced that it has authorized marketing of 23andMe's Bloom Syndrome carrier test. The direct-to-consumer (DTC) genetic test can determine whether a healthy person has a gene variant that raises the risk of their offspring developing the disorder.
The FDA will not limit who should and should not use these tests, but it will require 23andMe to include clear labels explaining the chance of false results and what they mean for parents. They will also require the company to provide information to consumers regarding how to obtain access to a board-certified clinical molecular geneticist for counseling.
"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. Today's authorization and accompanying classification, along with FDA's intent to exempt these devices from FDA premarket review, supports innovation and will ultimately benefit consumers," said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health. "These tests have the potential to provide people with information about possible mutations in their genes that could be passed on to their children."
Two separate studies conducted by 23andMe determined the test can accurately detect Bloom syndrome carrier status. One study looked at a totally of 123 samples, and the other looked at 105 samples, some of which belonged to known carriers of the gene. The company also conducted a usability study with 295 people who were not familiar with the 23andMe saliva collection device, and found most could properly use it and collect the sample. Finally, the company conducted a user study of 302 randomly recruited participants to test out whether or not the instructions were easy to follow.
"The test is intended only for postnatal carrier screening in adults of reproductive age, and the results should be used in conjunction with other available laboratory and clinical information for any medical purposes," the FDA stated.
