At-Home Genetic Breast Cancer Test Raises Concerns


For Jewish women of Ashkenazi descent, the recent announcement that the Food and Drug Administration has approved at-home genetic testing for BRCA1 and BRCA2 gene mutations that may indicate higher risk of breast cancer may seem like good news.

Ashkenazi Jews have a higher incidence of these mutations. But while at-home testing might be an easier and more private way to check for some breast-cancer risk factors, the FDA and health care providers caution that consultation with a doctor and/or genetic counselor should accompany the at-home tests.

23andMe is the ancestry DNA testing company that will soon begin offering tests that can screen for the three BRCA1 and BRCA2 genetic mutations that may increase a woman’s breast cancer risk.

“In the Ashkenazi Jewish population specifically, there is a 1 in 40 chance for an individual to carry a BRCA mutation,” said Monique Lubaton, cancer genetic counselor at Alvin and Lois Lapidus Cancer Institute at LifeBridge Health. That’s about 10 times higher than in the general population.

Lubaton said there has been contention in the genetic counseling field about at-home genetic tests.

“Our main priority is informed consent,” she said. “And while I do think it’s every person’s right to have access to their genetic information, the concern is that they are not properly educated in what these results might mean and might not mean for them.”

Lubaton said that people who decide to home-test should consult with their doctor and a genetic counselor for verification with a clinical test. Patients might need a wider array of tests than just for the BRCA1 and BRCA2 mutations, which are only a fraction of the more than one thousand BRCA mutations that can indicate an increased risk of breast cancer.

“The concern is that these women test negative for the 23andMe three mutations, of course that’s going to reduce some risk, but it is not telling the full picture,” she said, adding that clinical genetic testing is much more affordable now than in its early years. Covered clinical tests can run as low as $100, she added, similar to an at-home test.

“It’s so much more affordable than what patients think. I think people are under the impression that testing is still in the $3,000/$5,000/$10,000 ballpark, when it really isn’t,” Lubaton said. “Patients never pay that much out-of-pocket. Ever.”

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