The Food and Drug Administration (FDA) has approved for marketing 23andMe’s Bloom Syndrome carrier test to determine whether a healthy person expresses a gene variant that could lead to their child inheriting the disorder.
The Bloom Syndrome carrier test is a direct-to-consumer (DTC) genetic test that is intended only for postnatal carrier screening in adults of reproductive age. The results should be used in conjunction with other available laboratory and clinical information.
The test was evaluated for accuracy in two separate studies. One study tested 123 samples (including samples from known carriers of the disease), and the other study tested 105 samples. Both studies showed equivalent results in the detection of Bloom Syndrome carrier status when the same samples were tested.
A usability study of 295 people unfamiliar with the 23andMe saliva collection device was also conducted to show that consumers could understand the test instructions and collect an adequate saliva sample. In addition, a user study of 302 randomly enrolled subjects representing the general population was conducted to show that the test instructions and results were understandable.
With this approval, the FDA is also classifying carrier screening tests as class II and is intending to exempt these devices from FDA pre-market review.
For more information visit FDA.gov.