23andMe gets FDA approval for Bloom Syndrome genetic test

By Katelyn Busse, National Monitor | February 23, 2015

Consumer genetics testing startup 23andMe can now inform people about their risk for one inherited disease

The direct-to-consumer genetics Silicon Valley startup 23andMe was authorized Feb. 19 by the Food and Drug Administration (FDA) to use their kit to test for and provide feedback on a serious genetic disorder known as Bloom Syndrome. The genetic test will tell consumers about genetic risk for holding a disease by analyzes consumers’ spit, which will determine whether a healthy person has a gene variant that could result in their offspring inheriting the disease.

The National Institutes of Health describes Bloom Syndrome as “an inherited disorder characterized by short stature, sun-sensitive skin changes, an increased risk of cancer, and other health problems." Other symptoms of the syndrome include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and persistent infections during infancy of the upper respiratory tract, ears, and lungs. The disorder is rare, affecting about 1 in 50,000.

Along with this authorization, the FDA is also classifying carrier screening tests as a class II medical device. Most medical devices are considered Class II devices, including powered wheelchairs and some pregnancy test kits. 43% of medical devices fall under this category. In addition, the FDA also plans to exempt these devices from FDA premarket review, allowing the device to be marketed to consumers without delay. The agency plans to issue a notice that announces the intent to exempt these tests and that provides a 30-day period for public comment.