Jan 1, 1997

Oct 20, 1998

Questions and Comments
Barb Biesecker: Genetic Counselor by Ruth Levy Guyer, Ph.D.

Barb Biesecker talks to people about their genes—what they might mean, and what they don't mean.


Barb Biesecker, M.S.

Suppose a gene is identified that puts people at risk for a painful, debilitating disease. Those who have the gene are much more likely than those without it to develop the disease, but even for them the chance of getting the disease is only, say, 50-50. Would you want to know if you had that gene?

Or, suppose a gene is identified that causes a disease for which there is currently no effective treatment. Knowing that you couldn't do anything about the disease if you got it, would you want to know that you had that gene?

As the power of modern genetics grows, people face these real-life questions every day. Some people absolutely want to know that they have a disease-susceptibility gene, no matter how scary the disease or how resistant it is to treatments. Others definitely don't want to know this information, preferring to be hopeful and see what the future brings.
Barb Biesecker (right) counsels a pair of prospective parents  

Barb Biesecker talks to people about their genes. She is a genetic counselor, a counseling researcher, and also the co-director of a new genetic counselor training program sponsored by the NIH and Johns Hopkins University.

"This is my dream job," says Biesecker, as she describes the position and programs she and her colleague Don Hadley designed a few years ago when they were asked to consider working at the The National Human Genome Research Institute at the NIH. "I love research. And I enjoy being around people—the people she counsels, her coworkers, and those she trains — who appreciate that life and health are not guaranteed."
Genetic information, unlike some other medical information, is almost never definitive. A doctor may say "you have an orange peel in your ear" followed by specific advice on what to do—"let me take it out for you, and don't put it back." But genetic information only reveals what may happen in the future, not what will happen. And it is information that is complicated technically and, often, emotionally draining.

Biesecker says that the classical training for genetic counselors prepared them for "transmitting complicated information about genetic factors, like what 'triplet repeats' are. But my experience is that people make decisions on the basis of emotional factors — what is the meaning of having a disease gene in their life. They seem to care a lot less about the [technical] genetic stuff."


Possibilities, not destiny: The complete set of 23 human chromosomes

Thus, in counseling sessions with patients, their relatives, and other "at-risk" individuals, Biesecker focuses heavily on psychological and social issues, although she also explains to them how the gene in question works and is inherited.

"When we counsel patients," says Biesecker, "we explore why individuals do or do not want information. We have people imagine what it would feel like to have a positive result — to have the gene for the disease — when they can't do much about it. We ask whether the potential benefits are worth the risks of testing."

Emotional counseling associated with genetic counseling is typically short term, but very intense. "We have to establish a relationship fast around some genetic entity," says Biesecker. Genetic counselors help people "learn to cope with what's been handed to them. We perform a mental health service."

Her approach, called client-centered counseling, starts with a determination of the critical issues for each individual. Everyone's information needs are different, as are their abilities to process information. And their reactions to good news — "you don't have the disease gene" — or bad — "you do" — are varied and unpredictable.

"Uninformed enthusiasm for testing," sometimes causes people to rush into genetic testing, says Biesecker. They are excited by the fact that finally a test exists before they fully appreciate how the information could affect their lives. Genetic counselors try to prepare clients for what genetic information may mean to them.


A family tree showing members with breast cancer.

Many of the clients Biesecker counsels are women in families plagued with breast and ovarian cancer. In 1994, through examinations of the genes of women in a number of high-risk families, scientists identified a breast-cancer associated gene, which they named BRCA1. Many women in these families grew up and have lived under a cloud of fear about this illness, wondering if they too will be its victims. Many dream about the disease, and their outlooks on the future may be colored by myths about the occurrence of the illness. Knowing whether they carry the altered BRCA1 gene can be a vital piece of information.

Biesecker and her colleagues are trying to learn how best to present information to clients about the BRCA1 gene, and so the counseling for BRCA1 testing is "scripted." As they talk to individuals, they also assess what information is really useful and is not, what information clients want and need in order to make informed decisions about being tested, and what meaning genetic information has in their lives. They look at how people process information and sort the significant information from the pointless. "The goal of genetic counseling is a little nebulous," says Biesecker. "It is to meet the patients' needs. Each person is different."

BRCA1 counseling includes three meetings with each client. The first is an eight-hour assessment, counseling, and education session. The counselors talk about the gene, about the test, about anticipated results, about what it might mean to have a positive result or a negative one. They raise issues that the client may not have considered previously, such as the possibility that the test result will imperil the person's health insurance. They ask the client to imagine how she would react if she found out that she, but not her sister, had the gene, or vice versa. If individuals are interested in having the test — and not all family members are — they then give a small sample of blood.

At the second counseling session, the counselor tells the person the result of the BRCA1 test. A negative test means the person does not have the BRCA1 gene. Yet, Biesecker says that even a negative result "is not always good news." It can elicit a range of reactions: some women are thrilled, but others experience "survivor guilt" when they realize that they no longer face the same problems that confront their sisters or mothers; many need time to adjust to a lifelong burden lifted.

No one is happy to have a positive test result, but the reactions to such a result are also varied. Some women will change some of their behaviors: they might have more frequent examinations to try to catch the disease early, alter their diets, get more exercise, and so on. Some choose to have their breasts removed before any cancer cells appear. Some make major adjustments in their plans for the future. Some mothers and grandmothers are especially upset to learn that they have passed the gene on to their children.

Biesecker finds that women in both groups experience difficulty adjusting to news that they did not anticipate. It takes time, she says, to accept a new image of one's self, and relations with partners, friends, and family members often change.

One year after clients learn their BRCA1 status, they meet again with Biesecker to discuss how the information has affected them. Biesecker says that she considers three sessions of counseling a bare minimum, but that it may be impractical to do more.

Genetic counseling is a relatively new profession and one whose boundaries have been changing. "About 25 years ago," says Biesecker, "a forward-looking physician in New York, named Melissa Richter, developed a training program for the first genetic counselors, to teach them how to help people deal with genetic diseases. At that time, only a very few disease genes, such as those for hemophilia and sickle cell anemia, were known."

Over the years, scientists identified more genetic diseases, and it became possible to test not only people already suspected of having a disease but also fetuses as well. Biesecker says that it took a number of years for genetic counselors not to be viewed as abortion advocates, something that they definitely are not.

"Terminating a pregnancy is an extreme and horrible option for people who have planned a pregnancy," she says. Couples may learn from a genetic test that they will have a child with a given disease. But this information does not automatically lead to a plan of action. "There are benefits," she says, "from raising a child with Down's syndrome, for example, that are rarely discussed."

On the flip side, couples who learn that their fetus does not have a specific gene sometimes are falsely confident that everything will be fine forever with their baby. "The concept of a 'perfect baby' sets people up," says Biesecker. "It concerns me that we counselors are overzealous and do not counsel people fully." She points out that when a baby does not have a known genetic defect the parents may be hit doubly hard when, sometime later in its life, the child becomes sick or has a debilitating accident.

How best to deal with different situations that genetic counselors face is an ongoing process.Genetic counseling skills are not acquired through a simple formula, and Biesecker is quick to point out that self examination and questioning go on all the time in the genetic counseling community. One of her research questions, for example, is whether it is better for a patient to know or not know a diagnosis. "On a day to day basis," she asks, "are people more optimistic without one?" She describes one little girl with myriad problems who is doing much better than anyone expected. But as of yet, the girl's condition has not even been given a name. If the girl had a diagnosis and a prognosis — an assessment of what the future should hold — would her family and caregivers treat her more like someone with a disabling condition and thereby inadvertently undermine her efforts to deal with her problems? No one knows for sure.

Biesecker is often in the lucky position of having good news for her clients. But she is also often the bearer of bad news. Nonetheless, she loves her work and says she is energized by interactions with her clients. "It is such a privilege to know these incredible people and their families and to observe the ways they find to be brave and to cope with difficult illness."

Additional Resources

The home page for the National Society for Genetic Counselors has more info about careers in genetic counseling.

The National Human Genome Research Institute has a large web site, with information about genetics and genetics research. Barb Biesecker has a page there, too.