FDA on Thursday approved 23andMe's Personal Genome Service Genetic Health Risk as the first direct-to-consumer genetic test for sale in the United States.
According to the New York Times, the approval could pave the way for more companies to market direct-to-consumer genetic tests for disease risks.
Background: FDA orders 23andMe to stop selling unapproved genetic tests
23andMe previously provided customers with personal health analyses through a so-called Personal Genome Service on its website. The service included a genetic test that analyzed customers' DNA in a saliva sample to tell them whether they might be at a higher risk of developing certain diseases.
FDA in 2010 had told 23andMe and similar companies that such tests were "high-risk" medical devices requiring agency approval. 23andMe that year applied for FDA clearance to market its test kit for several purposes. However, the company's application for FDA approval lapsed because 23andMe failed to provide additional information requested by the agency.
As a result, FDA in November 2013 ordered 23andMe to stop selling the genetic tests. The company complied.
23andMe received approval to sell direct-to-consumer test for medical conditions
FDA has approved 23andMe's new genetic health risk tests as the first direct-to-consumer tests to provide users with genetic risk information for certain diseases.
FDA said consumers should use the tests to help make lifestyle choices and inform conversations with health care professionals. However, FDA noted that the tests only track one factor that helps to determine a person's overall risk of developing certain conditions. As such, the agency cautioned that even if the test results indicated a user is at risk for a certain condition, they do not mean the user definitely will develop the condition.
According to Reuters, the tests, which are based on an analysis of DNA extracted from a user's saliva sample, screen for more than 500,000 genetic variants that could be associated with a heightened risk of developing 10 different diseases or conditions—most of which are rare. The tests screen for variants associated with:
- Alpha-1 antitrypsin deficiency, a disorder that heightens an individual's risk of lung and liver disease;
- Celiac disease, a disorder that leads to an individual's inability to digest gluten;
- Early-onset primary dystonia, a disorder that involves involuntary muscle contractions and other uncontrolled movements;
- Factor XI deficiency, a blood-clotting disorder;
- Gaucher disease type 1, a disorder that affects individuals' organs and tissue;
- Glucose-6-Phosphate Dehydrogenase deficiency, a red blood cell condition;
- Hereditary hemochromatosis, a disorder that causes the body to absorb too much iron;
- Hereditary thrombophilia, a blood-clot disorder;
- Late-onset Alzheimer's disease; and
- Parkinson's disease, a nervous system disorder that affects movement.
23andMe plans to sell the tests as part of the company's ancestry and health services package for $199, the Wall Street Journal reports. 23andMe automatically will include information on all of risk genes for which the tests screen, but users will have to specifically request to receive information on their Alzheimer's and Parkinson's risks.
Some say approval improves access to genetic testing, but could lead to undue stress
According to the Times, the test could improve U.S. residents' access to their genetic information by providing the test and results to users online. Individuals typically have had to receive genetic tests from a health care provider, the Times reports.
"Some people really want" their genetic risk information, 23andMe CEO Anne Wojcick said. She added, "They find it empowering. They may want to make diet and exercise changes, or retire earlier, or they may be able to detect symptoms earlier. And then the question is whether we can potentially intervene more effectively by learning the risk sooner."
James Beck, chief scientific officer of the Parkinson's Foundation, cautioned that once individuals "get the test and read the results, there is no going back." He stressed the need for genetic risks to be put into perspective for users, particularly because most of the diseases the tests screen for are rare.
But Robert Green, a genetics professor at Harvard Medical School, said most of the people who request genetic tests are able to handle the results. He added that in previous studies related to risk-testing for Alzheimer's, "there [was] some potential for distress ,but it [was] much, much smaller than was anticipated" (Kolata, New York Times, 4/6; Burton, Wall Street Journal, 4/6; Ritter, AP/Sacramento Bee, 4/6; Clarke, Reuters, 4/6).
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