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Here's the thing: I snoop for my Christmas presents. I read the last page of a novel first. I found out the sex of my children the very day their little-boy parts dangled into view. I even devour horoscopes—not because I'm certain the universe holds the key to my life, but because it just might. So when WH asked if I would consider learning which diseases could eventually take me out, I had only two words: Hell yes.
And so, on my 39th birthday ("Stay positive!" beseeches my horoscope), I tear open a glossy package from 23andMe, a California-based personal genetics company that sells $429 testing kits online. I spend the next five minutes hawking up sputum like a teenage boy; I need enough saliva to top off a test tube, no air bubbles allowed. As I vigorously work my mouth, I think about the different illnesses—diabetes, cancer, heart disease—that killed off my relatives, and whether or not these ailments are hiding deep in my own DNA.
I shove the vial into a plastic specimen bag, stick it in a padded envelope, and hustle down to FedEx. This is way better than Christmas, I think. In six weeks I'll be staring at a blueprint for my health future.
Used to be, someone who wanted to take a peek at her genetic makeup had to visit a clinical geneticist for a series of very expensive, specific tests. But now anybody can bypass the best doctors—and their offices—and get a wide-ranging health report through one of dozens of direct-to-consumer (DTC) genetic testing companies. It's an industry that's expanding at an exponential pace.
While DTC technology is relatively cheap and simple—tests are processed on small glass slides called gene chips that can scan some half million sites on the human genome—the cost-effectiveness comes with a hidden price: hard-to-interpret results. 23andMe, for example, tests for 163 health conditions and diseases and arranges your results in "risk" categories (elevated, average, decreased). It also puts stars next to the results it's extra-confident in—i.e., ample science backs up the disease-gene connection—and then attaches percentages to the illnesses you're most likely to get. Confused yet?
What's more, a few diseases, such as Huntington's, are 100 percent genetic (if you carry the gene, you'll develop the illness), but most are more complex and difficult to test for, says geneticist George Church, Ph.D., of Harvard Medical School. Cancer, for example, is likely the outcome of a mash-up of inherited genes, hormones gone haywire, and exposure to environmental carcinogens.
And although DNA research is forging ahead at breakneck pace (one recent study found 150 genetic variants that may increase our chances of living to 100), the DTC field remains poorly standardized and largely unregulated. To wit, when Francis S. Collins, M.D., Ph.D., director of the National Institutes of Health, took three separate DTC tests, he received three different risk assessments—high, average, and low—for prostate cancer. And this May, when Walgreens started stocking its shelves with the world's first such retail kits, the FDA stepped in with a ruling: The government now considers these tests medical devices, which means they need regulatory approval. Walgreens yanked the boxes, and a week later Congress launched an official investigation.
Leave it to my coolly analytical husband to kill my crystal-ball buzz with some rational perspective. What if, he asks, I find out that I carry the BRCA mutations for breast and ovarian cancers, which could increase my chances of getting the diseases by up to 60 percent? Would I run straight to the hospital and have my breasts removed? (And should we immediately beef up our life insurance?) What if the test predicts I might get Parkinson's, a disease that has no cure? Look at Olivia Wilde's character on House, he reminds me, who after finding out she carries the Huntington's gene goes on a casual-sex binge.
Valid points, all. And while my curiosity trumped my prudence, I'm starting to feel a little unhinged. I mean, I think I'm healthy—and I often live as if I'm indestructible—but what if I'm not? What if there's a ticking time bomb buried in my genetic code? I revisit 23andMe's site and scroll though warnings such as "this knowledge is irrevocable" and "it may provoke strong emotion." Gulp.
"Learning about genetic risks is serious; this is real medical information," says Liz Kearney, president of the National Society of Genetic Counselors. It's information some experts believe the average person might not be able to contextualize or be emotionally prepared to handle. "There are a lot of repercussions to finding out," adds Sofia Merajver, M.D., Ph.D., director of the breast and ovarian cancer risk and evaluation program at the University of Michigan. She has seen women fall into serious depression after learning they carry risky genes, and most DTC companies don't provide counseling. "These results are potentially harmful if not interpreted by a genetic counselor," says Merajver. "Without counseling, some people might take good care of themselves, but others might react in ways that could end up being harmful." Besides, women already know they need to engage in healthy behaviors like eating right and exercising regularly.
Whether they do, of course, is another story. "I think these companies are providing a great service," argues Raju Kucherlapati, Ph.D., a member of the Presidential Commission for the Study of Bioethical Issues. "If you know you might be susceptible to an illness, you might really change your lifestyle." DTC test results might also raise awareness that diseases don't have to run in your family in order to be genetically rooted, he adds.