The newly-approved test is the first direct-to-consumer (DTC) product to examine 3 specific BRCA1/2 mutations that are common among patients of Ashkenazi Jewish descent; however, the mutations are not the most common variants among the general population, according to the FDA.
The FDA stresses that despite approving this first-of-its-kind test, the fact is that it only detects three out of 1,000 DNA abnormalities which can lead to cancer, so it shouldn't replace regular mammogram tests or trips to the doctor. "But it has a lot of caveats", said Donald St. Pierre, acting director, Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health.
The newly authorized test identifies three of 1000-plus mutations associated with breast cancer risk. Most cancers are not caused by genetic mutations, and the ones tracked by the test aren't the most common BRCA mutations. It can not determine a person's overall risk of developing cancer. Those decisions should be based on confirmatory tests and genetic counselling. The use of the test carries significant risks if individuals use the test results without consulting a physician or genetic counselor. About one in 40 individuals of Ashkenazi Jewish descent has one of these three variants.
The FDA said that while this test provides detection of a BRCA mutation, only a small percentage of Americans carry one of the variants.
In addition to self-breast exams, which men and women are encouraged to do at home, there's also an at-home test approved by the Food and Drug Administration that consumers can buy.
The regulator said it reviewed data for the company's test under a regulatory pathway for low-to-moderate risk devices that are not equivalent to an already marketed device. The manufacturer also submitted data on user comprehension, which showed instructions and reports were easily understood. They provide information on what the results might mean and where to get additional information. The agency also outlined special controls created to assure test's accuracy and reliability.