Peering Into the Future

Ami McKay now has an annual colonoscopy. Another kind of genetically driven colon cancer, familial polyposis, is treated by removing the colon. The risk of breast and ovarian cancers in people with BRCA mutations can be reduced by frequent screening and radical surgery, too. Having healthy breasts or ovaries removed isn't easy, but the payoff--an end to constant anxiety and a pre-emptive strike at disease--can be well worth it. "Most women I've met who've had prophylactic surgery are glad they made the choice even if they're unhappy they were put in that position," says Sue Friedman, a breast-cancer survivor and head of FORCE, an advocacy and support group focused on hereditary cancers. "It's a double-edged sword."

Genetic testing, exciting as it may seem, isn't always the answer. When Wendy Uhlmann, a genetic counselor at the University of Michigan, teaches medical students, she flashes two slides on a screen side by side. One says ignorance is bliss. The other: knowledge is power. That's because the value of testing becomes especially murky--and ethically complicated--when there is no way to prevent or treat disease, as in the case of early-onset Alzheimer's, which often strikes before the age of 50, or Huntington's.

Today only about 5 percent of people who are at risk for Huntington's--which is caused by a single gene and leads to a progressive loss of physical control and mental acuity--take the test. Many are worried that genetic testing will put their health insurance or job security in jeopardy. While there have been few documented cases of discrimination, nobody can say for sure what will happen as more disease genes are discovered and more Americans sign on for predictive testing. States have a patchwork of regulations in place, but what needs to happen now, experts say, is for Congress to pass the Genetic Information Nondiscrimination Act, which would put a federal stamp of approval on keeping genetic information safe.

For Shana Martin, 26, of Madison, Wis., the decision not to get tested is far more personal. Shana grew up watching her mother, Deborah, battle Huntington's. Now a fitness instructor (and the current world champion in logrolling, no less), Shana is young, strong, healthy--and not interested in opening her genetic Pandora's box. "I don't know how well I'd handle a positive result, and with how happy I am right now, that would just put a real shadow over my life," she says. "I'm much more comfortable with it being an unknown."

Some people, however, can't live with uncertainty. Uhlmann's patient Stephanie Vogt knew Huntington's ran in her family--her paternal grandfather and his three brothers all died of complications of the disease--and she wanted to find out where she stood. "As soon as I found out there was a test, I just had to do it," she says. In August 2000, after comprehensive genetic counseling, Stephanie, her sister, Victoria, and their mother, Gayle Smith, learned her results: positive. "It was like a scene out of 'The Matrix,' where everything freezes and starts again," says Stephanie, now 35 and single. Victoria, 36, who has since tested negative, says she hopes to care for her sister down the road. She also prays for a cure. Knowing isn't always easy. On good days Stephanie feels empowered; on bad days she's frightened. "But most of the time," she says, "I'm comfortable with the fact that I have the knowledge."

It's not just their own health that people care about. There is also the desire to prune disease from the family tree. Today, using a scientific advance called preimplantation genetic diagnosis (PGD), couples can create embryos through standard fertility methods, then screen them for genetic disorders, selecting only those that are mutation-free for implantation. The practice is expensive (in the tens of thousands of dollars) and not widespread, but a recent survey of fertility clinics by the Genetics and Public Policy Center found that 28 percent have used PGD to help couples avoid diseases that strike in adulthood, like breast cancer and Huntington's. Kari and Tim Baker knew they had to give it a try. Kari's grandfather died of Huntington's, and her mother was diagnosed in 1999. Kari, a board member of the Huntington's Disease Society of America, wanted to spare her kids. Twins Brooklyn and Levi are now vibrant 2 1/2-year-olds who will never have to worry. "There's great joy and peace in knowing we did everything we could to not pass this on," says Tim.