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.
In 2013, the FDA forced 23andme to pull its DNA testing kits in the United States, specifying that the personal genetics company was offering an untested diagnostic device. The fact that the FDA has allowed 23andme to test for one specific genetic disorder is a potential sign that the company’s full offering may legally become available one again.
Alberto Gutierrez, Ph.D. and director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health said “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”
Along with the specific test for Bloom Syndrome, the FDA has plans to ease up on the regulation of all “autosomal recessive carrier screening tests.” These tests are used on people who display no symptoms for a genetic disorder, but who may be at risk for passing it on to their children.
23andMe CEO Anne Wojcicki said in a statement following the news, “While this authorization is for a single carrier status test only, we are committed to providing US customers with health information once more tests have been through this process and we have a more comprehensive product offering.”
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