Unraveling Your DNA's Secrets
Do-it-yourself genetic tests promise to reveal your risk of coming down with a disease. But do they really deliver?
Ellen had long thought that her death was preordained. Her mother and aunt died of ovarian cancer, and her mother had breast cancer, too. So the 54-year-old woman decided to get tested for the BRCA genes that cause hereditary breast and ovarian cancer. "I wanted to do the testing anonymously," she says. "I didn't want it in my medical records." First Ellen called Myriad Genetics, the Salt Lake City outfit that holds the patent on the BRCA genetic test. But Myriad wouldn't test her without a doctor's signature, and her doctor would only sign if she used her real name. (Ellen is an alias.) Then she heard about DNA Direct, a San Francisco firm that sells the test to the public. Under an assumed name, Ellen took the test in June, and it came back positive for the BRCA mutation.
Ellen, who lives in New York, kept mum as she bought long-term care insurance and increased her life insurance. "Those were a hard three months," she says now. "I was convincing myself that I really had something." She finally told her doctor, and in early December, she had surgery to remove her ovaries, the only way to ensure that she won't get ovarian cancer. Now she's talking with an oncologist and a reconstructive surgeon about having her breasts removed. "I'm very happy with DNA Direct," she says. "They did excellent medical and genetic counseling."
In an era of inexpensive DNA analysis, genetic testing has become absurdly simple: Buy a test online, and within a few days a kit arrives in the mail. Rub the small brush on the inside of your cheek for 30 seconds, pop it back in the prepaid envelope, mail it back, and voilá! In a short time, you'll receive the truth about your genes. "A lot of people didn't have access to these tests," says Ryan Phelan, an entrepreneur who founded DNA Direct in 2003 to sell tests for cancer, cystic fibrosis, and other diseases. "This started really out of seeing a very important need," Phelan says. "And if there's a need for it, maybe there's also a good business."
Real genes. But is good business also good medicine? In the past few years, dozens of companies have started selling genetic tests via the Internet. Some are real medical tests, for diseases including breast cancer, celiac disease, and hemochromatosis. Others test real genes but don't give information that's useful in making personal health decisions. "Many of the claims that are being made are quite fanciful," says Francis Collins, director of the National Human Genome Research Institute, who oversaw the project to sequence the human genome. "But the fact that many of these tests have not yet reached the point of rigorous scientific validation has not slowed down the interests of consumers and of entrepreneurs."
For years, scientists have predicted that medical care will improve as they decode the ties between genes and disease. Just about every week there's a "disease gene" discovery. But so far, very few genes associated with major diseases have proved helpful in diagnosis or treatment. A few genetic tests are used for diagnosing familial breast and colon cancers. Others are helpful in tailoring cancer treatments.