Genetic Testing for Hereditary Cancer: How It Works

If someone in your family has or had cancer, it’s natural for you to wonder if you have an increased risk of developing it, too.

Current medical guidelines recommend that people who have a personal or family history of cancer undergo genetic testing for hereditary cancer. Also known as family, inherited, or genetic cancer syndrome, these terms refer to when an abnormal, or mutated, gene is passed from parent to child that can greatly increase the risk of certain cancers.

Genetic testing allows doctors to find these mutations that can be passed down through families, thereby identifying who is at a heightened risk of developing certain cancer types. A test known as the “hereditary cancer gene panel” can check for many different genes associated with a risk for breast cancer, colon cancer, prostate cancer, and other cancers.

To perform the test, doctors collect a small sample of your blood or saliva and send it to a specialized lab to be analyzed. Test results can come back as positive, negative, or variant of uncertain significance.

A positive result means a mutation was found that puts you at an increased risk of developing certain cancers. A negative result means no known mutations were detected. However, you could still be at an increased risk for cancers that were not part of the test. A variant of uncertain significance means a genetic change was identified, but there is limited information about the implications of this finding; you should talk to your doctor about further screening recommendations.

In the video above, you can learn more about genetic testing, including details on a law called the Genetic Information Nondiscrimination Act, which offers certain protections from discrimination based on genetic test results.