By 2005, it’s projected that the National Human Genome Research Institute of the National Institutes of Health will have located all genes, and researchers are expected to link them with common diseases such as hypertension, diabetes, and bipolar disorder. As genetic mysteries are unlocked, people may have the option of using their genetic information to identify their personal risks and promote health.

In the meantime, geneticists, ethicists, health professionals, and patients are determining case by case whether current genetic tests are appropriate and how to protect patient privacy. By wrestling with the issues now, they are preparing for a future of advanced genetic knowledge.

Currently, genetic tests with varying degrees of accuracy and usefulness are available for many diseases. In many cases, the outcome of a genetic test and whether an at-risk patient will benefit from having a test at all are not clearcut matters. Genetic counselors—health professionals with master’s degrees who often enter the field from disciplines such as nursing, biology, public health, or social work—help patients decide whether to undergo testing. They discuss issues including a test’s reliability, its ability to predict the onset of a disease, the potential impact of test results on a patient’s life, and measures for maintaining confidentiality.

Only in some cases does a genetic test pave a direct path to a life-saving medical treatment. Detecting the gene for the rare von Hippel-Lindau disease, for example, would mean that a patient would definitely get the disorder. The patient would be monitored and routinely tested for tumors that begin to grow in the brain, kidney, and eyes. When the tumors appeared, the patient would be immediately treated.

But other tests detect only the risk of disease, and the benefits of testing are more ambiguous. For example, two genes, BRCA 1 and BRCA 2, were recently linked to breast cancer, but environmental exposures and ethnic background, as well as heredity, play a part in predicting whether a woman will contract the disease, researchers say. And the statistical significance of the link between the genes and breast cancer varies from study to study. Amid the confusion, some women find testing for the gene to be useful; others decide to defer the testing, saying the results would not change their habits of routine surveillance.

"Some women will feel doomed with a positive test result; others will feel protected with a negative. With the

appropriate counseling, neither of those things should happen," said Lynette Wright, MSN, RN, an associate professor of nursing at Nell Hodgson Woodruff School of Nursing at Emory University in Atlanta who owns her own genetic counseling business.

"Everybody carries some harmful genes," said David R. Witt, MD, chief of genetics at Kaiser Permanente Santa Teresa in San Jose. "We may not know it yet, but we’re all going to be at risk for something."

While insurance or job discrimination based on genetic test results is not widespread, it does occur, geneticists say, and protection against it is critical.

Genetic counselor Becky Althaus, MS, RN, who works at Baylor University Medical Center’s Breast Cancer Risk Evaluation Program in Dallas, said some of her patients take extreme precautions. "I counseled a woman yesterday who is going to pay for the [breast cancer gene] test herself," Althaus said. For this patient, paying the $2,400 fee on her own made her feel more secure than having her insurer pay and know the results.

Discrimination issues may diminish as more is understood about genetic testing and steps are taken to ensure patient confidentiality. Groups like the International Society of Nurses in Genetics are lobbying for patient protection bills, such as a bill by Sen. Olympia Snowe, R-Maine, and Rep. Louise Slaughter, D-N.Y., that would prohibit health insurers from discriminating against individuals and their families who have requested genetic information.

Shirley Jones, PhD, RN, past president of the International Society of Nurses in Genetics, says it would be natural for more nurses to get involved in genetic counseling. "Nursing historically has played a role in health care of being a purveyor of information. So much of the role of genetic testing is the transfer of information."

Jones, a board-certified geneticist, points out that nurses are probably the ones making the referrals to genetic counselors in the first place. "The very important piece for nurses in all of this is to understand the availability of the tests in order to inform the patient for whom they provide care," she said.