FDA approves direct-to-consumer gene mutation test for breast cancer

Medical experts concerned that test will mislead women on cancer risk

Published on March 9, 2018

Contact: Lisa Berry

The Food and Drug Administration (FDA) this week approved a direct-to-consumer test for three breast cancer gene mutations that are most common in people of Ashkenazi (Eastern European) Jewish descent. While the test may be beneficial to a small subset of the population, the Prevent Cancer Foundation® is concerned that women and men who use the test may be given a false sense of reassurance about their cancer risk.

The test uses saliva samples to report on three specific BRCA1/BRCA2 breast cancer gene mutations, out of the more than 1,000 known BRCA1/BRCA2 mutations. These three mutations are common in people of Ashkenazi Jewish descent and account for more than 90 percent of their risk of heritable breast and ovarian cancer. The test could also indicate if a man is at increased risk of developing breast or prostate cancer. However, the three mutations are not the most common BRCA1/BRCA2 mutations in the general population.

It is important for consumers to know that a negative result from this test does not rule out the possibility of other BRCA mutations that increase cancer risk. The test provides genetic information, but cannot determine your overall risk of developing breast, ovarian or prostate cancer.

“This test has the potential to mislead many women and men who will take a negative result to mean they should not be concerned about their cancer risk,” said Carolyn Aldigé, President and Founder of the Prevent Cancer Foundation®. “There are more than a thousand known gene mutations that can increase your risk of breast, ovarian or prostate cancer.”

“Only 5-10 percent of cancer cases are caused by hereditary gene mutations. That means that EVERYONE, regardless of his or her genetic testing results, needs to be vigilant about getting screened and living a healthy lifestyle to prevent cancer.”

Genetic testing—regardless of the result—does not take the place of annual mammograms beginning at age 40 (or earlier, depending on risk) or Clinical Breast Exams (CBEs) every three years in your 20s and 30s and every year starting at age 40.

If you are considering genetic testing, the Prevent Cancer Foundation® recommends meeting with a genetic counselor. Your counselor will discuss the full picture of your health and risk factors (including family history), the pros and cons of genetic testing and your options after you do that test. You should check with your insurance company before meeting with a genetic counselor to see if the meeting and genetic testing are covered by your insurance.

For more information on how to reduce your risk of breast cancer, visit

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