Doctors voice concerns over popular at-home genetic testing

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Doctors voice concerns over popular at-home genetic testing: Ali Gorman reports during Action News at 5pm on March 23, 2018. (WPVI)

Some local doctors are voicing concerns about an at-home genetic test that screens for the risk of breast and ovarian cancer.

It was just announced a few weeks ago that the DNA test 23andMe can now check for some gene mutations linked to a greater risk for cancer.

But there are some major caveats.

It's a test you can do at home, without a prescription. Using the 23andMe kit, a tube of saliva can tell someone more about their ancestry, the risk of some diseases and now their risk for some cancers.

Dr. Veda Giri, Director of Jefferson's Clinical Cancer Genetics Service, says direct to consumer tests give more people access to the screening, but in many ways they fall short.

The FDA has now authorized 23andMe to test for BRCA gene mutations, which are linked to a greater risk for breast, ovarian and prostate cancer.

"This particular test is looking for three specific mutations in BRCA 1 and 2, these mutations are at a higher in women of Ashkenazi-Jewish decent," said Dr. Giri.

But she says there are approximately one-thousand other mutations with the BRCA genes that this test doesn't detect, so a negative result could give false reassurance.

"A person could certainly think they are not at an elevated risk for cancer, when really they would have needed full BRCA 1 and 2 testing, potentially testing of other genes and also even their family history would matter," said Dr. Giri.

She's also concerned about the follow-up with at-home tests. Would consumers know what to do with the results?

"An individual who does not have cancer and is otherwise healthy really has to understand what the test results mean for them and their family," said Dr. Giri.

She says if someone is interested in genetic screening or if you're concerned about your risk for cancer, it's best to meet with a trained professional who can go over your medical history and your family history and then talk about options and recommendations.

Dr. Giri says most primary care providers can refer you to a genetics professional.

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