Say “genetics” and Gregor Mendel and his peas probably aren’t the first thing to pop into mind anymore. These days, the human genome project, stem cell research, DNA testing, and inherited diseases may all come to mind, crowding together in a confusion of information. Our knowledge of genetics has surely increased—but do we know what to do with that knowledge? Consider: • A woman with a strong history of breast cancer in her family doesn’t want to be tested for the BRCA 1 or BRCA 2 genes. Should she be? If her sister gets tested, should the sister share the results of her test?

• A man wants to undergo a predictive test for Huntington’s disease. But does he want the test and its results included on his medical records?

• And a case recently reported in the New York Times: Embryos created in a lab were tested for a rare, early-onset form of Alzheimer’s disease carried by the mother. A healthy embryo was then implanted in the mother’s uterus. But the mother will likely develop Alzheimer’s within the next few years, leaving her unable to care for her child. Should ethicists and others be involved in such a decision?

Some decisions have legal and ethical ramifications; most have medical and emotional implications. And all involve deciphering sometimes complex genetic information as well as assessing an individual’s risks and life quality. Which is why business is booming for genetic counselors, those who guide patients through this maze.

Genetic disorders are caused by mutations—a change in the DNA sequence—in a gene or set of genes. Mutations can occur at any time. And not all genetic abnormalities are inherited. Thus, the wide range of conditions and diseases termed “genetic.”

And, as Bonnie Baty, a genetic counselor in the Department of Pediatrics at the University, points out, “People are living longer, so the conditions for which only a childhood life expectancy was once projected now stay with us longer. And more genes are being discovered.” As a result, genetic counseling, which began as a pediatric specialty, is now a standard part of several specialties, including oncology, neurology, and gerontology. A genetic counselor’s job is a communication function, a combination of explaining medical information and helping patients decide what that medical information means for them.

In Utah, there are 15 genetic counselors—four in pediatrics, three in obstetrics, four at the Huntsman Cancer Institute, one in radiology, two at Myriad Genetics, and one currently working on a doctorate—all in Salt Lake City, who work with people around the state. Genetic counselors must be licensed in Utah, the second state to enact licensure and the first to actually implement it.

Many genetic counselors—including the three who spoke to Continuum—had a biology focus in their undergraduate studies but wanted more human contact than lab work offered. About 25 master’s programs in genetic counseling exist throughout the country, with a curriculum composed of a mix of medical genetics, counseling, and education.

Still, when it comes to genetics, the education, training, and licensing don’t always prepare counselors for scenarios that can outpace imaginations. Genetic mutations are, after all, mutations—unpredictable by their very nature.

Lisa Wadge, a genetic counselor who specializes in familial breast cancer and melanoma at the Huntsman Cancer Institute, recalls a patient who discovered she had a gene mutation that put her at a higher risk for breast and ovarian cancer. After much thought, the patient decided to have prophylactic surgery to remove both breasts as well as her ovaries. But she died within a year—of a different kind of cancer.

Maureen Cantwell, a genetic counselor specializing in perinatal genetics, remembers one patient whose amniocentesis revealed an abnormal chromosome result. Cantwell briefly discussed the result with the patient by phone and scheduled an appointment. But at the meeting, the patient and her husband came in with other news—the fetus had died. “Some sessions become crisis counseling sessions,” says Cantwell.

The “creed” of genetic counseling is that counselors are to be nondirective. “It stems from the old connection between eugenics and genetics,” says Baty. “In the early part of the 20th century, there was involuntary sterilization for ‘traits’ like drunkenness or poverty. So there was a backlash against genetic counseling because of the inequity of power—that is, that these so-called scientists were giving more than advice.”

But being nondirective is not so simple. Some patients are looking for direction. Some quickly make decisions that seem to fly in the face of the genetic information offered. (One patient of Cantwell’s simply got up and left just as Cantwell started her explanation.) “To be a genetic counselor, you have to be open-minded and accepting of others’ belief systems,” says Cantwell. “I always stress that the final decision about testing is the patient’s.” Wadge agrees. “You try to realize what your biases are when you’re counseling,” she notes.

At the same time, given the nuances of communication techniques, what constitutes “nondirectiveness” is sometimes a matter of interpretation. A session with expectant parents, children of a parent with alzheimer’s disease, or a family at risk for colon cancer involves a delicate give and take. “The tone of voice or the choice of words can hint at what you think,” says Wadge. As Baty points out, simply modeling how a patient might approach a decision can easily become coaching that patient about what to do.

Additionally, the nature of the genetic information does not always lend itself to a definite course of action, whether it’s a positive result to a maternal serum screen or a sketchy family history of cancer. For example, a prenatal test may show the presence of fragile X syndrome in the female fetus. One-third of girls with fragile X will develop significant behavioral problems or developmental disabilities; two-thirds will not. But the test won’t show which group a particular fetus will fall into, or what kind of problems—from mild to serious—might develop. “It’s very common that you don’t have precise information to give a patient,” says Baty. “The family wants a diagnosis, but you don’t have one.” In fact, Baty mentions one study which showed that patients whose tests revealed more definite information were more satisfied with their overall treatment, including that by genetic counselors; those whose tests showed less definite results were less satisfied, regardless of the sensitivity and care shown by doctors and counselors.

A patient trying to make sense of the unsettling or confusing results of a genetic test has to consider another difficult question: who else should know the results? The patient’s family? Insurance company? Employer?

A 1998 study by the National Center for Genome Resources found that 63 percent of respondents would be inclined not to take genetic tests if results were accessible to employers or insurers. That fear of retaliatory action because of genetic test results led to President Clinton’s 2000 executive order prohibiting discrimination in federal employment based on genetic information. In addition, most states have laws prohibiting insurers from discriminatory practices based on information from genetic tests, and many have genetic employment discrimination laws. Utah, which had been one of the few without an anti-discrimination law, just passed one during the 2002 legislative session.

Still, as Baty points out, the reality of people’s lives is more complex than a law. “I know one woman who was fired for being tested, even though she was asymptomatic. The Americans with Disabilities Act covers such situations, but not every patient wants to pursue a long process of seeking redress, especially if they’ve received a terminal diagnosis,” she says. “And lots of people don’t get tested simply because of fear.”

Decisions about whether to tell family members of the results of a test can be even trickier. As Wadge, who specializes in familial breast cancer, says, “The first person tested might get the information s/he wants, but do the others in the family want to know? One person’s results will impact the whole family. What if it’s the ‘black sheep’ who is the only one who carries the mutation? Patients need to think about the existing issues within the family and how this information will affect those issues.” Adds Cantwell, “There are lots of different kinds of patients—some are information seekers and some are information avoiders.”

Complicating this scenario is the fact that counselors may have met with other members of the family and know information that could affect one member’s decision. But because the counseling sessions are confidential, the counselor may not be able to share the information. Add to that the fundamental premise of being nondirective, and counselors may find themselves in an ethical quagmire.“Part of what we help people do is gather information, then we help the person assess whether that information makes a difference to them,” says Baty. “It really depends on individual circumstances. I’m always concerned about the psychological risk of knowing.”

Few counselors pretend that the mixture of medical information and psychological counseling presented in a session will end a patient’s fears or answer all questions. But with the accelerated pace of genetic discoveries, they find that for most patients, an expert translation of technical terminology and a set of thoughtful risk-assessment questions offers real relief. “The way I look at it,” says Baty, “the person has a difficult situation whether I’m there or not. So I can use my skills to help. I can’t take away the sadness, but I can help them gain something.”

—Theresa Desmond is editor of Continuum.