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The completion of the Human Genome Project—which mapped all our genes—opened a kind of Pandora’s Box. Now that we understand which genes are related to which diseases, isn’t it tempting to learn if we carry genes that increase our own risk?
Maybe. But before you open your mouth for a cheek swab, consider the following:
Although federal law prohibits insurance companies and employers from discriminating based on genetic testing, you still might not want them to know you’ve had it done. Which means paying for something that could cost thousands of dollars.
Even if you do choose to have your insurance cover the test, you may have significant copayments. One exception is genetic testing for women at high risk of ovarian and breast cancer. Under the Affordable Care Act, most insurance companies must provide the test with no copayments.
Environment is the other half. For instance, even if you carry a genetic fingerprint that increases your risk of lung cancer, that doesn’t mean you’ll develop lung cancer. However, it may mean that you’re more likely to develop lung cancer if you smoke or are exposed to second hand smoke, air pollution, and certain toxins. In other words, no matter what the test says, it’s unlikely to be definitive (there are a few genes that mean you definitely will get the disease, like the gene for Huntington’s disease). The results could also be wrong if it wasn’t read right.
If you learn that you carry the BRCA gene, which significantly increases your risk of breast and ovarian cancer, studies show that mastectomy and oophorectomy (removing the ovaries) can significantly reduce your risk.
However, there is less evidence on what you can do to significantly reduce your risk of other cancers, neurological diseases like Alzheimer’s and Parkinson’s, and autoimmune conditions like multiple sclerosis and rheumatoid arthritis.
If you have a genetic risk for a certain disease, your siblings and children share that risk, since you share similar genes. This could lead to significant anxiety and worry.
In November, the Food and Drug Administration demanded that five companies stop selling and marketing over-the-counter DNA tests until they receive clearance from the agency. To date, the FDA has not approved any over-the-counter DNA test kits.
If you’re interested in learning your genetic history/risks, talk to your doctor first about a referral to a genetic counselor (or contact one yourself). You can find one here. The counselor will take a comprehensive medical history to determine if genetic testing is even appropriate. For instance, there is no reason to test for the BRCA gene if there is no history of breast or ovarian cancer in your family and you have not been diagnosed with breast cancer.
The counselor will also carefully walk you through the results of any testing, explaining the risks and providing support and information about their implications.
Genetic testing can provide important information about your health – today and in the future. But, like any tool, there is a right and a wrong way to use it. Make sure you choose the right way and work with your doctor and healthcare professionals as you explore this brave new world of genetic testing.