Navigating Your Genetic Test Options

Today, you can learn your genetic risks for developing certain types of cancer, and you don’t even have to leave your home.

As science advances, at-home genetic tests are becoming more available and more popular. For example, the U.S. Food and Drug Administration recently gave 23andMe permission to sell the first direct-to-consumer tests for mutations in the BRCA1 and BRCA2 genes, genes linked to risks of developing cancer. (Yes, the same genes that increased actress Angelina Jolie’s chances of developing breast and ovarian cancer and prompted her to choose to have a preventive double mastectomy.) The 23andME test only requires sending a saliva sample to the company. You find out your results online.

The process is simple. There is a cost that insurance won’t cover, but it is convenient, and it gets you the answers that you crave. After all, knowing your genetic history can help reduce your risk of developing various types of cancer, most notably breast, ovarian and prostate cancers.

But is at-home genetic testing reliable? Is there an alternative? What is your best option?

While the idea of taking these tests in the comfort of your home can be appealing, it may be not be your best option.

Genetic assessment for hereditary cancer is very complex, and it is wise to meet with a genetic counselor rather than rely solely on an at-home test without medical guidance. The tests you take should depend on your personal and family history because there are a variety of genes that can be evaluated, says Amanda Hamblett, a genetic counselor for Middlesex Hospital.

Hamblett also warns that interpreting the results of a genetic test may not always be straightforward, and she says that most direct-to-consumer tests are not accurate enough to be used as a diagnostic test. They typically do not provide a complete analysis, Hamblett says.

What does that mean for you? If a risk factor is found as a result of a direct-to-consumer test, it still should be confirmed by a clinically validated laboratory test before you make any health care decisions.

Hamblett says it remains best practice for individuals who are concerned about their cancer risk to discuss those concerns with their health care provider and consider meeting with a genetic counselor.

What Middlesex Offers

Middlesex Hospital Cancer Center’s Hereditary Risk Assessment Program is offered at the center’s two locations in Middletown and Westbrook. The genetic counselors provide risk assessments for all types of hereditary cancer and to those with or without a personal history of cancer, and the process begins with genetic counseling.

Middlesex employs licensed, board-certified genetic counselors, and the genetic counseling process usually includes one or two appointments. During these appointments, counselors obtain and evaluate a detailed family history, and they determine if genetic testing is appropriate. If it is, they identify the most appropriate tests. The counselors also review with patients the benefits, limitations and options for genetic testing.

Genetic testing typically analyzes at least 25 genes, but can include more than 75 genes as appropriate. It may take up to four weeks to get the results of your genetic test. The test results and the detailed risk assessment are sent in writing to both you and your physician.

Genetic counseling and testing is typically covered by insurance, but can vary. Please contact your insurance provider for more specific information.

To learn more about genetic counseling and testing at Middlesex, call 860-358-2082.