Are You Frenetic About Genetics?

The headlines that greet every genetic advance can split people into two camps:

Those who use the news to support a fatalistic view that healthy living isn't worth it because their genes point to an early demise.
Those who anxiously await the test or treatment that will spare them the ravages of disease.

But the best course, doctors say, is to balance your interest in the latest findings with tried-and-true treatments.

In 2003, scientists finished the blueprint for the human genome, our genetic structure. And in 2005, they unveiled a map of genetic variations—the map they expect will help them learn which genes cause which major diseases. Almost daily, it seems, we hear doctors have found the gene that causes yet another condition.

The National Human Genome Research Institute (NHGRI), one of the National Institutes of Health, says such findings are changing the face of medicine. Someday, doctors will know far better how all your genes react with your environment to make you ill.

More research needed

But it may be years—perhaps decades—before fixing all your ills is a matter of manipulating your genes.

"There's so much excitement over what's being learned that we need to be careful not to allow expectations to outrun what is actually available," warns Reed E. Pyeritz, M.D., Ph.D., a medical genetics specialist in Philadelphia. "We can apply genetics today, but it's not on the level that a lot of people expect."

Dr. Pyeritz and the NHGRI say you should pay close attention to what is, by far, the most useful genetic knowledge—your family medical history. "When you learn your family medical history and take precautionary steps to protect your health, you really are using genetics to live a healthier life," says Dr. Pyeritz.

Still, you may be tempted by a growing industry spawned by genetic science that offers tests for everything from Alzheimer's disease to heart disease to some cancers.

Screening for the genetic part of disease is more of a reality than treating it. "When screening is available earlier, it tells us to heighten surveillance so that we might prevent illness or catch it in an earlier stage when there are better treatments," says Joan A. Scott, a certified genetics counselor in Washington, D.C.

Testing offered

Universities, government, and private firms offer tests. In some cases, you just call up a website, plug in the facts, send in a blood sample or swab from the inside of your cheek, and give your credit card number.

"There are about 1,000 tests clinically available now, and there is no one agency overseeing the testing. There's no Good Housekeeping Seal of Approval to tell who is doing it right," Scott says. "Your best choice is a major hospital or health-department lab."

"Tests can be expensive, and many of them are not covered by insurance," adds Dr. Pyeritz. Figuring out who may need which tests is confusing, too. Doctors and genetic counselors can help.

Chief among those who might consider genetic testing are couples trying to conceive or women who are pregnant, Scott says. Tests can screen for cystic fibrosis, sickle cell anemia, and thalassemia. "The American College of Obstetricians and Gynecologists now says all women who might become pregnant should be screened," she adds.

"The thing to be clear on is that even when there is a gene linked to a disease, such as BRCA I or BRCA II and breast cancer, the gene might be responsible for 5 to 10 percent of all cases. Other genes and environmental factors play a significant role," Scott says. "If you're not sure about what to do, start with your primary care physician, gynecologist, or pediatrician."

To learn more

GeneTests offers information on testing and counseling at http://www.geneclinics.org.
National Society of Genetic Counselors can help you find a qualified counselor. Visit the group at http://www.nsgc.org.