According to the National Cancer Institute, the three mutations are present in ~2% of Ashkenazi Jewish women compared to 0 - 0.1% in other populations.
Things changed in a big way in 2017 when the FDA authorized 23andMe to provide direct-to-consumer DNA testing for 10 conditions like celiac disease, Parkinson's, Alzheimer's, and more. It's the first at-home BRCA1/BRCA2 screening tool to be approved for use in the USA, and could significantly raise the number of people aware of having the cancer-related mutations.
Donald St. Pierre of the FDA's Office of In Vitro Diagnostics and Radiological Health said in a statement announcing the approval that the test is intended for people who might not otherwise get genetic testing, adding that "it has a lot of caveats".More news: I, Tonya is an exhilarating and gripping biopic
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23andMe previously included breast cancer risk in its genetic tests in the US, but stopped in 2013 after the FDA sent the company a warning letter stating the company was marketing its test without approval.
The FDA says the test is not a substitute for regular medical checkups and should not be used to make any medical decisions. But those mutations are not the most common BRCA mutations in the broader population. She works for and mentors other survivors at Carolina's Breast Friends, an organization which provides compassion and support to people going through breast cancer.
If it comes back positive for any of the three genetic mutations, like BRCA, the patient is instructed to see a doctor. Due to the mentioned caveats, the agency indicated that patients should not exclusively rely on this test, nor should the test be used to determine a cancer treatment. Furthermore, only a small percentage of Americans carry one of these 3 mutations. The test can identify three specific BRCA mutations that occur most often in people of Ashkenazi Jewish descent. The company submitted data on user comprehension studies, using representative GHR test reports, that showed instructions and reports were generally easy to follow and understood by a consumer. At this time, the FDA is also establishing special controls that outline the agency's expectations for accuracy, reproducibility, clinical performance, and labeling.