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If you could see your body’s blueprint // your genes spelled out //
would it really change // the future of your health?

Your Genome, Yourself

By David Howard // Photographs by Dean Kaufman // Artwork by Christoph Niemann // Summer 2008
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Personal genomic testing

When Jay Cross read about the new service from startup genomic-testing firm 23andMe, part of the appeal was academic. Cross, a 63-year-old business consultant, is naturally curious, and he was drawn to the idea of participating in cutting-edge science. But he was even more interested in what he might glean from his DNA about his personal health struggles. At 44, Cross had quit smoking and started running, only to suffer a heart attack shortly thereafter. Another followed a few years later. Cross, who also battled depression and attention deficit disorder, started to wonder, “Am I genetically predisposed to all this, or have I just been a bad boy?”

For $999, 23andMe offered insights into this fundamental question of nature vs. nurture. After making his payment, Cross deposited some saliva in a tube and mailed it off to the firm’s Silicon Valley headquarters. Researchers at the company, which was launched in autumn 2007 with the slogan “Genetics just got personal,” scanned the DNA sample and posted his results on password-protected Web pages.

With millions of genetic variations that differentiate one person from the next, the human genome is astonishingly revealing: Anyone who has wondered why he has green eyes will find the answer right there, in the genes, and the presence of certain genetic variations may partly explain why he is particularly adept at hitting a fastball. But 23andMe also offers a peek over the horizon, showing genetic predispositions to any number of conditions, from cancer to diabetes and arthritis.

Other new arrivals to the fledgling genomic-testing business include Navigenics and deCODEme. Many feature quirky applications; ScientificMatch, for example, offers a dating service, sorting potential mates based partly on genes associated with the immune system, theoretically increasing the chances that a couple will have offspring with robust immunity. Sciona promises a customized diet and lifestyle regimen based on an analysis of 24 genes. Almost anything seems possible, and genetic testing has become an estimated $730 million industry that is expected to grow 20% annually.

But 23andMe, named for the number of paired chromosomes that make up each genome, is the splashiest new DNA vendor. When Jay Cross logged on to the 23andMe Website to see his results, he learned that his extended family originated some 45,000 years ago on the Arabian Peninsula. Perusing his “Gene Journal,” Cross found other similarly arcane factoids, including his propensity for restless leg syndrome and his earwax type. But he was stunned to learn that, genetically speaking, he was 20% less likely than the average person to have a heart attack. He wasn’t sure whether it meant his lifestyle had brought on his heart problems or he had just been unlucky. Nor did he have a clear idea of what lay ahead. “I didn’t need to pay $1,000,” he says, “to find out about my earwax.”

Cross was learning what geneticists already know: that though genomic science holds great potential to tell us who we are and what maladies we may get, such tests are now of limited value. The startup firms’ decision to market highly complex tests directly to the public, often without any kind of expert on hand to interpret the results, has sparked considerable controversy and even the threat of legal intervention by state regulators. There’s a fear that people will take the results too literally and request batteries of unnecessary tests—or, perhaps worse, be lulled into a false sense of security.

The new firms argue that they are providing a service that has educational value and will inevitably become useful, as scientists move toward linking genes more clearly with cancer and other diseases. Linda Avey, co-founder of 23andMe, acknowledges that genomic-testing providers might not yet be able to deliver a great deal of useful information about illnesses people commonly worry about, but she expects that to change soon. “Our message to customers is, this is ongoing,” Avey says. Every time scientists achieve a breakthrough in a gene-association study, 23andMe adds that information to its database, expanding the information available to its customers. “It’s early, but more information will come out and we’ll get better and better about reporting it back to people,” Avey says.

But that begs the question of what happens in the meantime. Should someone—the government, the medical community—try to rein in these firms or discourage patients from putting stock in mail-order diagnoses? Or are people entitled to search the contents of their own DNA, whether what they learn is good for them or not?

previous // next
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The Price of Knowledge

Here’s what you get when you send in your saliva to three major firms in the mail-order genome market.

Your Genes Have Been Scanned. Now What?

New studies look at what consumers do—or don’t do—after a mail-order genome test.


1. “Are Doctors Prepared for Direct-to-Consumer Advertising of Genetic Tests?” by Erin Tracy, Obstetrics & Gynecology, December 2007. Clear-minded and succinctly worded, Tracy’s analysis cites both anecdotal evidence and numerous studies to suggest that DNA vendors are taking advantage of consumers—and to argue that genetic testing needs to be reined in.

2. “Breakthrough of the Year: Human Genetic Variation,” by Elizabeth Pennisi, Science, December 2007. With this opus in praise of new technologies able to sequence DNA and assess variations in genomes, Pennisi argues compellingly that the best is yet to come.

3. A Short Guide to the Human Genome, by Stewart Scherer (Cold Spring Harbor Laboratory Press, 2008). Laid out in an easily digestible question-and-answer format, this essential primer details the underlying science in the direct-to-consumer genetic testing debate.

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