To Know or Not to Know? What to Consider About Genetic Testing

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by Lisa Larkin, MD, FACP, NCMP, IF

You may have heard that the Food and Drug Administration (FDA) earlier this year (April) approved the sale of genetic tests directly to consumers for determining their disease-risk. The test checks for certain genes that might increase the likelihood of developing various conditions, including Parkinson’s and Alzheimer’s disease. Not everyone is excited about this decision, yet the information can be very empowering. Here are three things to consider when weighing whether or not to go through testing.

Risk does not mean certainty.

The approval this past Spring was for a test provided by the company 23andMe that will check for the genetic risk for developing ten diseases/conditions, such as celiac, hereditary hemochromatosis, Parkinson’s and late-onset Alzheimer’s disease. Other companies, such as Color Genomics, offer an in-home test for analyzing genes – including BRCA1 and BRCA2 – to help patients understand their risk for some hereditary cancers, including breast, ovarian, colon, and pancreatic cancer. No matter the disease state, tests that identify a greater risk of developing a disease or condition do not mean that a patient is destined to do so. Patients should absolutely take advantage of genetic counseling (offered free from both companies) and seek guidance from their personal physician to help them understand their results and what the information means for them.

Power to the patient.

The introduction of direct-to-consumer services such as these — that bypass physician prescriptions and/or insurance companies – is part of a trend toward more free-market medicine. Many consumers are frustrated and fed up with the restrictions of their health insurer, but are unable to afford testing on their own (out-of-pocket) due to the prohibitive costs. Companies like 23andMe and Color Genomics offer options for patients they may not otherwise have. For instance, one of my patients did not qualify for insurance coverage for testing of the BRCA1 and BRCA2 gene; her family history was right on the edge of what her insurer considered truly “at risk.” She had the option of paying for the test out of her own pocket – to the tune of $3,000. This patient wanted the information, despite the insurer’s algorithm predicting she was not at risk. For $250, she was able to get tested, and the results (fortunately) provided the peace of mind she needed.

Work with your doctor.

Ultimately, it’s your decision if you choose to be tested. But your doctor can help you weigh the pros and cons of doing so before you shell out $200 (or more). If you’re considering testing, talk with your doctor. He or she can offer evidence-based guidelines regarding family history and lifestyle choices that might increase your risk of developing certain diseases or conditions – and what changes you might make in your own health and wellness routine to decrease those risks.

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