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Published: Thu, March 08, 2018
Medical | By Garry George

Of-its-kind, at-home test aims to increase early breast cancer detection

Of-its-kind, at-home test aims to increase early breast cancer detection

The test can identify three specific BRCA mutations that occur most often in people of Ashkenazi Jewish descent.

The three variants in the BRCA1 and BRCA2 genes are associated with a significantly higher risk of breast and ovarian cancer in women, and breast cancer in men.

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.

23andMe has received the first FDA authorisation for a direct-to-consumer genetic test for cancer risk. And FDA warned that the tests, which work by analyzing saliva samples, carry significant risks for individuals if they are used without consulting a doctor or genetic counselor. Such decisions require thorough testing and genetic counseling, the FDA added. Most cancers are not caused by genetic mutations, and the ones tracked by the test aren't the most common BRCA mutations.

Of course, the test shouldn't be taken as the be all, end all of cancer risk - nor is it meant as a replacement for a proper screening. The test should not be used as a substitute for regular cancer screenings, he said. For all of these reasons, it is important for patients to consult their health care professional who can help them understand how these factors impact their individual cancer risk and what they can do to modify that risk.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The regulator said it reviewed data for the company's test under a pathway for low-to-moderate risk devices that are not equivalent to an already marketed device.

"I don't want to trivialize the potential for serious psychological burden that this risk information might provide; however, it is risk information that we know can lead to life saving interventions", Green said. The agency also outlined special controls created to assure test's accuracy and reliability.

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