Should you take a DNA test to learn your risk for diseases?

In recent years, genealogy has quickly become a popular hobby in the U.S. DNA testing kits teach you about your family ancestry, unlock your past and even help solve criminal investigations.

Recently, mail-in genetic testing expanded to offer tests to help you understand your risk of developing health conditions such as breast cancer, heart disease, ovarian cancer, diabetes, Alzheimer’s and more. But is it safe – and accurate?

As a consumer, if you don’t live near a clinic that offers genetic testing, have poor health insurance or aren’t aware of your family history of disease, then direct-to-consumer (DTC) genetic testing is conveniently designed for you. 

However, DTC tests have raised concerns about the validity of its data and health risk assessments. DTC tests don’t look for all mutations of conditions that can lead to false negatives and completely miss your risk of being diagnosed with one of the conditions. There have also been several reports of false positives with these tests. If tests show an inherited gene mutation, patients can believe they’re at higher risk of breast cancer than they really are.

“If a patient has a family history of breast cancer and is worried about her risk, I would recommend she sees a genetic counselor and take a standard gene panel test rather than use a mail-in genetic test,” says Dr. Heidi Memmel, co-director of the Caldwell Breast Center and breast surgeon at Advocate Lutheran General Hospital in Park Ridge, Ill. “There are significant limitations to mail-in genetic tests that consumers are not aware of, which can be misleading.”

For breast cancer specifically, most mail-in tests only look for mutations in two genes, BRCA1 and BRCA2, that can increase the risk for breast and ovarian cancer. The panel tests do not test for all the known BRCA mutations like our standard gene panels do, Dr. Memmel says. 

“This means the tests are missing thousands of mutations that can put women at higher risk of breast cancer,” Dr. Memmel says. “It could lead women to believe they are not at risk, and can potentially cost lives.”

To learn more about breast health screenings or to find out if you are eligible for them, click here.