Genetic Counseling: The Human Side of Science

Kelly Taylor Not long ago, a young couple entered Deborah Lochner Doyle's office with a dilemma that most people, thankfully, never have to face. Their 6-year-old child had been born with cystic fibrosis (CF), a common genetic disease that results in chronic lung infections and usually kills by the age of 30. The couple had become pregnant again and had come in to have the fetus tested. Though neither parent had CF, both carried one flawed copy of the cystic fibrosis transmembrane receptor that causes the disease. If the child inherited two flawed copies--one chance in four--it would also develop the disease. If the child were unlucky, would they end the pregnancy? "It's a conflict to think about terminating a baby with CF knowing full well you love your 6-year-old son," says Doyle, a genetic counselor and the state coordinator for genetic services at the Washington State Department of Health. Welcome to the world of the genetic counselor, where the esoteric field of genetics meets the human condition. Many scientists enter their fields with an intrinsic curiosity about how the science affects people, and while some thrive at the bench focusing intently on a research problem, others feel drawn to exploring the social implications of their work. "For someone like me, who had strong interest in [people] and in molecular genetics, it's kind of ideal because I have a foot in both worlds," says Kelly Taylor, coordinator for the Genetic Studies Core Facility at the University of California, San Francisco. She was also a residence-hall adviser to other students while pursuing a biology degree. After two years as a bench scientist, "I realized that was not for me," she recalls. Taylor then entered the genetic counseling master's degree program at the University of Michigan. Taylor's experience is common, says Diane Baker, who directs the Michigan program. "This is a field that has strong reentry appeal. Many people in other areas, particularly biology teachers and people in the pharmaceutical industry, find they're attracted to genetic counseling," she says. But this isn't a second career you can just waltz into. The vast majority of genetic counselors complete a master's degree in accredited programs--there are about 25 in the United States--and pass a certification test given by the American Board of Genetic Counseling. Certification hopefuls must also log at least 100 patient cases, usually while pursuing the advanced degree. Photo: Genzyme Corp. Genetic counselors at Genzyme Genetics explain the results of genetic tests to doctors as well as directly to patients. The relationship of a genetic counselor with the patient is far more complex than the one-to-one interplay most health care providers experience. "The whole family is your patient," explains Robin Bennett, a genetic counselor and manager of the medical genetics clinic at the University of Washington medical center in Seattle. "There are all kinds of confidentiality questions. If I have a genetic condition, it affects my children, my brothers and sisters, and my parents." Genetic counselors spend a lot of time interviewing patients and family members, collecting a family history spanning four generations or more, and collecting medical histories. They also provide the patient with information about his or her condition, and what specific risks a test result may indicate. Then comes the hard part. Says Doyle, "We try to solicit from the family: What does this mean for you? Everyone has different values and beliefs and we don't face the same information the same way. Once you understand where a family might be coming from, then you can help them make a decision that's comfortable for them and help them work through it. Sometimes that means doing nothing, and sometimes it means pursuing every test under the sun." For example, genetic counselors often see women with a family history of breast cancer who find that they, too, have inherited a mutation that causes an increased risk. "Should she have mammogram screens at an earlier age than someone Should she take a prevention drug [such as taxol] to decrease the chances of developing breast cancer?" Bennett asks. And perhaps more vexing--if she has a 5-year-old daughter, do you screen her? "Testing children for adult onset conditions where there's no cure--that's a huge issue," says Bennett. To resolve such questions, the counselor must listen to the needs of the family. What preconceived notions do they have about the condition? How will their religious background affect their decisions? Is the patient under pressure from family? "I have to give them facts in a nondirective manner. They may ask what they should do, but I can't tell them. All I can do is say what other people have done under the circumstances," notes Bennett. In fact, the role of a genetic counselor may not be to impart information at all, but rather to draw it out. Often, people have thought privately about the consequences of a genetic condition, but have felt uncomfortable voicing those thoughts. "The counselor can put it on the table, and they can react to it through the counselor so the other party can hear it," says Doyle. She recalls the couple who struggled with the decision of whether to terminate their second pregnancy if the child turned out to have CF: "Both parents had thought about it, but they had both decided they could not justify ending a pregnancy based on a diagnosis of CF because they wouldn't be able to tell their 6-year- old son why they had done it." A career in genetic counseling isn't lucrative, but you won't starve, either. Salaries range from less than $30,000 a year to more than $60,000, with a median range of $35,000-$40,000, according to a 1998 survey of the National Society of Genetic Counselors. And those numbers could improve if the field expands as rapidly as many predict. As the search for genetic causes of disease turn up more telltale genetic changes, patients will be faced with more tests and more choices. In time, most hospitals and medical centers will probably have one or more genetic counselors on staff to handle those needs, but Doyle says that genetic counselors are already branching out from that "traditional" role. "There are an increasing number of genetic counselors working in education, administration, public policy, and as customer [representatives]" for genetics companies, she says. "It used to be that the bulk of genetic counselors worked in hospital-based prenatal diagnostics, and clearly that's changing." Taylor's position is a good example. Taylor's Genetics Studies Core Facility at the University of California, San Francisco, provides services to campus scientists whose research interests include genetics. Taylor helps them manage the collection and categorization of samples, writes study protocols designed to protect patient privacy, and develops patient education materials. "I act as a liaison between researchers and the families," she says. Like traditional genetic counselors, Taylor also collects family histories and answers patients' questions. American Board of Genetic Counseling www.faseb.org/genetics/abgc/abgcmenu.htm National Society of Genetic Counselors www.nsgc.org Links to other organizations www.faseb.org/genetics Other genetic counselors find employment in the biotechnology industry. Companies prize counselors' communication skills, says Baker, and may hire them to work with investors or the public relations department. "They won't sensationalize the science or frighten anyone," says Baker. Companies also hire genetic counselors to help explain test results. When a physician orders a genetic test on a patient, the company's laboratory conducts the test and returns the results to the physician. Many companies find it useful to have genetic counselors on hand to work with the physician to be sure that he or she interprets the results correctly. "There are so many genetic tests available today that it's difficult for physicians to stay current [and recognize the limitations of individual tests]," says Constance Sandlin, clinical medical director of Genzyme Genetics, a division of Genzyme Corp., Cambridge, Mass. Genzyme Genetics also employs between 55 and 60 clinical genetic counselors who provide direct patient care at medical centers around the country, making it the largest employer of genetic counselors, Sandlin believes. The company has gone to the expense of hiring the counselors because they feel it helps to ensure that the results of tests get disseminated accurately to the patient, she says. Association with a company can also help the counselor stay on top of his or her field. "Working for a company involved in [research and development], we're constantly involved in discussions about new technologies and what the future is going to hold," says Sandlin. Whatever may come, the future figures to bring many more genetic tests that consider a wide variety of diseases. Such tests should greatly improve physicians' ability to prevent, manage, and cure illnesses, but they will also cause doubt and uncertainty among both patients and doctors. There should be plenty of demand for well-trained genetic counselors to help guide them. James Kling (nasw.org/users/jkling) is a science and technology writer in Bellingham, Wash.

Genetic Counseling: The Human Side of Science

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