Are There Holes In My Genes?

Navigenics cofounder Dietrich Stephan, a deputy director for discovery research at the nonprofit Translational Genomics Research Institute (TGen), says, "This is really complex, hard-core science that's still evolving." There isn't yet definitive research on what percentage of people with disease-associated SNPs will get sick or exactly what mitigating role external factors such as diet and exercise might play.

Even so, Stephan asserts that consumer genomics can be useful to patients at these early stages. "We aren't saying, 'You have no symptoms but start taking these five drugs,'" he says. "We're saying, 'This is something you should keep an eye on; here are the symptoms; here are the opportunities for early detection.'"

Navigenics makes the case that such information would be helpful to doctors as well--more helpful, at least, than the Web-aided self-diagnoses that patients often bring to them these days. "When a physician is listening to someone who has seen information on the Internet, their eyes cross," says TGen president and scientific director Jeffrey Trent, who sits on Navigenics's scientific-advisory committee. "With this, [patients] will be going in with specific, selective information that's been through a process that is rigorous and scientific."

Still, science and rigor don't guarantee utility. "The question is whether we know enough about the characteristics of these tests at this point in time for them to be applied effectively to a person's health care," says Greg Feero, chief of the genomic health-care branch at the National Human Genome Institute.

Pyeritz adds that "there really haven't been any good studies to demonstrate that people are going to behave differently knowing that they have an increased genetic risk of a disease." David Altshuler, a Harvard physician and geneticist who emphasizes that genetics "is just one factor" contributing to disease, recalls one patient who told him her son had taken a genetic test but made none of the suggested lifestyle changes because he didn't want to be "a slave to genes."

I thought about how I might respond if I turned out to be at higher risk for breast cancer. I already check for lumps. And as soon as I stop nursing my 14-month-old baby, I plan to ask my doctor whether I ought to get an early mammogram. What more could--or would--I do?

As the date for getting my results neared (Navigenics aims to deliver the data in under a month), I began to wonder about another potential problem: privacy. I realized I was about to tell all the readers of Fast Company--including, perhaps, the very nice people at my insurance company--about my risk factors for a raft of diseases. My DNA would also be on Navigenics's servers. Though I'm not sure why a hacker would want such data, I still don't like the idea of their being vulnerable.

Navigenics does take precautions such as encryption, multiple servers, security audits. Thirty-four states have nondiscrimination legislation covering, with varying degrees of strength, genetic information; a federal law, already passed overwhelmingly by the House, awaits Senate approval. But still, I worried.

Of course, I also worried about the results themselves. Here they are: My risk for Alzheimer's turned out to be low--just 7%, compared with an average risk for all women of 17%. My risk for breast cancer--what I had worried about most--is a shade below average, at 12.7% versus 13%, according to Navigenics.

Yet for three conditions--heart attack, rheumatoid arthritis, and Crohn's disease--my risk tested slightly higher than normal. Elissa Levin, who heads Navigenics's genetic counseling program, sought to put those results into perspective: "Overall, I'd say you have some of the lowest risk that we've seen."

Her words sparked an inner celebration--my genome was on my side! But then I realized I didn't feel better protected or freer to become a sybarite. At lunch that day, I ordered a sandwich on whole-wheat bread, took a long look at a cookie--and said, "No, thanks." Unlike my DNA, that was something I could control.