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FDA Clears Consumer Genetic Breast Cancer Risk Tests

Population genetics

(National Human Genome Research Institute, NIH)

7 March 2018. The Food and Drug Administration authorized the first direct-to-consumer tests of genetic risk for cancer, in this case 3 variations of genes associated with higher risk of breast and ovarian cancer. FDA’s action clears the personal genetics company 23andMe in Mountain View, California to begin offering the tests to customers in the U.S.

Among those at higher risk for breast and ovarian cancer are Ashkenazi Jewish women, mainly families from Eastern Europe. Some of their cases are traced to inherited mutations in BRCA1 and BRCA2 genes that normally produce proteins suppressing formation of tumors. With these variations, however, the genes do not function properly, allowing tumors to develop. While studies cited by FDA show more than 2 percent of Ashkenazi Jewish women develop cancer from these mutations, these same variations rarely occur in the general population: in 0.1 percent or less. But according to a landmark 1997 study, more than half (56%) of people carrying these mutations will develop breast cancer and 16 percent will contract ovarian cancer by age 70.

23andMe offers genetic assessments direct to consumers, with tests for ancestry alone or with health traits added. Customers send in saliva samples that the company analyzes and returns the results to individuals. Among the traits tested by the company are the presence of genetic variations that increase risks for diseases in individuals, and known to cause inherited conditions passed on to children. The company’s customers can also volunteer their test results for research studies, that usually require filling out online questionnaires about their health status. Customers can also sign up for specialized studies, with data collected in some cases with iPhone apps.

The company and FDA say the authorization is based on data from these follow-on analyses of genetic data from customers. Tests used for FDA’s review show results from 23andMe’s tests corresponded to high-throughput Sanger sequencing, the so-called gold standard of genetic testing, more than 99 percent of the time. The tests likewise show they can be repeated or reproduced more than 99 percent. And assessments of customers’ comprehension show genetic health risk test instructions and reports are generally easy to follow and understood.

Both FDA and 23andMe note that cancer is a complex disease caused by many interacting factors beyond genetic predisposition. Anne Wojcicki, 23andMe’s CEO says in a company statement, “it’s important to understand that the majority of cancer is not hereditary, our test does not account for all genetic variants that can cause a higher risk of cancer, and people should continue with their recommended cancer screenings.”

FDA reviewed 23andMe’s tests with its de novo premarket review pathway, assigned for devices considered having low to moderate health risks, and in cases where there are no equivalent devices already cleared for marketing. In April 2017, the agency authorized the first direct-to-consumer genetic health risk test of any kind, for 10 inherited traits including variations associated with Parkinson’s disease and late-onset Alzheimer’s disease, also offered by 23andMe.

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