A Genetic Test to Spot Health Risks

Scientists first mapped the human genome 14 years ago. Since then, they have learned a lot about genetics, and someday that wisdom may lead to a cure for many diseases. But we’re not there yet. There’s “a ton we don’t understand,” says Lawrence Brody, director of the genomics and society division at the National Human Genome Research Institute. Keep that in mind if you take advantage of the first “direct to consumer” genetic test for health risks.

That test became available in the spring, when 23andMe, a DNA testing firm, was the first company to win approval from the Food and Drug Administration to sell directly to consumers—without a prescription—a genetic test that screens for certain health risks. Here’s how it works: You pay $199 to order a Health and Ancestry kit online from 23andMe.com. When it arrives, you spit into a tube and mail it back. Two months later, you can view your results in your online account. The 23andMe test currently provides results for five diseases, including late-onset Alzheimer’s and Parkinson’s. Genetic results for more health conditions will come later, says a 23andMe spokesperson.

Tests like this aren’t new, but in the past you could typically get one only if your doctor ordered it. And often it was to screen you for a specific condition, such as the BRCA genes, which put you at higher risk for breast and ovarian cancer. The results were then shared with a doctor, who interpreted them for you. By contrast, the 23andMe test puts the results in the hands of the consumer, much like a home pregnancy, cholesterol or HIV test.

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Should you get one? Before you do, consider your motive. What kind of information are you looking for, and what are you going to do with it? After all, some of the diseases for which 23andMe has been authorized to provide genetic reports—Alzheimer’s, for instance—have no cure. Also keep in mind that having the gene for a certain disease doesn’t mean you’ll get the disease. There are exceptions, of course. If you have the gene for Huntington’s disease (which is not part of the 23andMe test), “you almost certainly will get it,” says Susan Hahn, who is the Alzheimer’s expert at the National Society of Genetic Counselors.

But that’s not the case with Parkinson’s. “Direct-to-consumer genetic testing can help to identify who is at risk for developing Parkinson’s but cannot predict who will be diagnosed,” says John Lehr, CEO of the Parkinson’s Foundation. The same is true of Alzheimer’s. That’s one reason the Alzheimer’s Association discourages genetic testing, says Keith Fargo, director of scientific programs and outreach. “It’s not going to answer the question most people have: Will I get Alzheimer’s or not?”

Get counseling. Nevertheless, some people are “information seekers,” says Hahn. And information can be powerful. It could push some people to adopt healthier habits, a major factor in staying well.

If you choose to get a genetic test for health risks, seek counseling from a genetic specialist or a doctor, who can help you understand your test results. Genetic counseling is not included in 23andMe’s Health and Ancestry kit. But the firm’s website provides resources that help connect customers with counselors. Without that filter, you might misinterpret the results. Just ask Jamie Tyrone. Seven years ago, she learned in a scientific study that she had a 91% chance of getting Alzheimer’s after age 65 because she had inherited a gene associated with Alzheimer’s from her mother and her father. Tyrone, now 56, became depressed and was diagnosed with post-traumatic stress disorder. “I went into a deep, dark hole,” she says. Had she gotten genetic coun­seling, she would have learned that she might not develop Alzheimer’s at all. “The APOE gene is not sufficient nor is it necessary to cause the disease,” says Hahn. Tyrone is now an advocate for genetic counseling. “Get counseling ahead of time, get prepared, and get as much information as you can,” she says.