Should You Get Genetic Testing?

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If you had the chance to know whether you were at a heightened risk for certain diseases, would you find out? After watching my grandmother slide deeper into Alzheimer's and my cousin undergo rounds and rounds of chemotherapy for stage IV breast cancer, I decided I would and signed up for a genetic workup, courtesy of 23andme.com.

I'm not the only one. As genetic testing becomes cheaper, it's an option more people are turning to. But does testing save lives or just make you worry more? 

Genetic testing can be life-saving if you're looking for a particular illness, says Lance Batchelor, Ph.D, a molecular biologist and lab manager for the University of Oklahoma School of Medicine. But there is a real concern with just having your genome sequenced and then looking for red flags in your DNA. "The problem is that the screening is way ahead of the treatment for many diseases," he says. "There's the risk that you're going to find out something, and we won't be any more able to save your life than if you'd just waited until you got it." [Tweet this fact!]

However, Batchelor says that this isn't true for all diseases (the BRCA breast cancer gene mutation is a well-known example), and that if you have a known family history or risk of a particular condition, it makes sense to get tested. 

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For myself, I initially did the genetic testing hoping to learn of my own risk for breast cancer (negative for both genes, thankfully!) and Alzheimer's (normal risk), but I was also interested in the pages of other results I got. Some, like the fact that I have the gene for the photic sneeze reflex, were not surprising—every time we walk out of a dark theater into daylight, my entire family goes off like a sprinkler system. But others I found worrisome. For instance, I have a mutation that affects the way I metabolize folic acid but had no idea what to do with that information. After all, the test results don't come with any genetic counseling or recommendations. I turned to the Internet and came back with some pretty strange answers.

And that scenario is exactly what worries Batchelor. "I am all about people being healthy, but it's easy to go overboard," he says. "These tests can give people a kind of OCD that often causes them to seek out information that can be unreliable and actually cause them harm." 

The issues get especially thorny when it comes to children. CNN's Sanjay Gupta, M.D., recently reported on the push to make genetic screening standardized, pointing out that testing only for known risks can mean missing rare or other potentially life-threatening diseases. Even so, Batchelor isn't a fan of standard genetic testing on babies, saying that is a decision that each family needs to make for themselves along with help from their doctor.  He adds that there are general guidelines set in place by the American College of Medical Genetics to help people make these decisions responsibly. 

Another huge problem with the current system is insurance. Batchelor's seen it become especially problematic in his pediatric patients who test positive for a disease for which they won't show symptoms until adulthood—and then they get dropped by their insurance for a pre-existing condition. Patients can lobby to keep their information private, but it's becoming an increasingly thorny area of the law. At least with tests like 23andme, that information stays private. 

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After my wild-goose chase on the Internet, I ended up making an appointment with a genetic counselor to help me interpret all my results. She said that I really don't have anything to worry about except for a small increase in my risk for heart disease. She recommended I eat healthy and get plenty of exercise—not bad recommendations, but not ones I needed a genetic test to tell me either. And would my feelings be different if I had tested positive for breast cancer or Alzheimer's? It's hard to say. I'm still glad I did the test though, even if just to be able to tell my husband that there's a biological reason I get lost all the time (I lack a gene associated with spacial acuity). 

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