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The Dangers of Do-It-Yourself DNA Testing
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This article originally appeared on Health Beat.
Recently, Time magazine listed the retail DNA test as its best invention of 2008 (thanks to Kevin M.D. for the tip). The best? Maybe one of the most worrisome.
Time specifically highlights the do-it-yourself DNA testing kit from 23andMe, a California-based corporation named after the 23 pairs of chromosomes in each human cell. The company sells $399 DNA kits that consist of a test tube in which you spit and send to the company's lab. There, over the next 4-6 weeks, researchers extract DNA from your saliva and map your genome, putting the results online. You can access the results through the web and navigate a guide to your genes that estimates "[genetic] predisposition for more than 90 traits and conditions ranging from baldness to blindness."
Admittedly, this sounds pretty cool. As Time gushes, "in the past, only élite researchers had access to their genetic fingerprints, but now personal genotyping is available to anyone who orders the service online..." But look closer at the commoditization of DNA testing and the novelty wears off pretty quickly.
By pinpointing specific genes associated with certain diseases, a 23andMe gene read-out can inform a user of his or her susceptibility to those conditions. It turns out this is a lot less useful than it might seem. For example, Time reports that one test showed that the husband of 23andMe's founder has a rare mutation that gives him an estimated 20 percent to 80 percent chance of getting Parkinson's disease. The couple's child, due later this year, has a 50 percent chance of inheriting this mutation, and thus his dad's risk of Parkinson's.
At this point, the parents-to-be have to worry that their kid will have a mutation associated with an incurable disease. If he has it, they also have to fret that he has anywhere from a one in five to a four in five chance of actually contracting the disease. Really, how helpful are these numbers? That's a big range of probabilities. I wager it doesn't feel terribly good to be tracking the genetic lottery of your son's health, disease by disease. In fact, I imagine that it's downright harrowing.
Dr. Alan Guttmacher, acting director of the National Human Genome Research Institute of the National Institutes of Health, agrees. In September, he told the New York Times that "[DNA testing] can be neat and fun, but it can also have deep psychological implications" because it can profoundly influence the way we view ourselves, our loved ones, and our relationship to the world. As Guttmacher told Time, "a little knowledge is a dangerous thing."
Here Guttmacher isn't just talking about the strange helplessness of knowing the ever-so-approximate probability of your child getting sick. He's also speaking to the fact that DNA tests themselves only provide a little knowledge -- just one small piece of the complex puzzle that is our health. Unfortunately, DNA tests often promise much more than this. One company, Navigenics, is actually dedicated to reading your DNA and diagnosing you with a set of medical risk factors that you then discuss with an appointed "genetic counselor." The idea is that genetic tests reveal some sort of fundamental physiological truth; a complete and comprehensive assessment of our health.
It's true that some conditions, like cystic fibrosis and Huntington's disease, have been scientifically proven to be associated with particular genetic mutations. But many other conditions have not been shown to have a genetic origin -- particularly when that gene is detected without an intimate understanding of environmental factors surrounding a patient, as it is the case when researchers on the other side of the country analyze your spit.
See more stories tagged with: human genome, dna testing, genome mapping, 23andme
Niko Karvounis is a Program Officer with The Century Foundation in New York City, where he works on issues of socioeconomic inequality and health care. He is a regular contributor to Health Beat, the Foundation’s health care blog.
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