Genetic Counselors Struggle For Status

Their field is blossoming, but many are disturbed by what they see as a lack of official recognition The field of medical genetics--whose practitioners are, for the most part, Ph.D.'s--recently received a significant boost by being offered member status by the American Board of Medical Specialties (ABMS), an Evanston, Ill.-based indepen- dent body that evaluates and certifies physician specialists, such as cardiologists. The prestigious ABMS hasn't admitted a new field to its 23-group roster in 13 years, and the last time ABMS recognized Ph.D.'s, as opposed to M.D.'s, was back in 1957, when radiation physicists gained member status. With the new offer, 291 Ph.D. medical geneticists--who detect genetic problems in patients--will be on a par with obstetricians and pediatricians in that they will be able to set fees, be reimbursed by insurance companies, and not be obligated to report to M.D.'s. But if ABMS's offer of member status comes as a pleasant surprise to Ph.D.'s, it must be a sour disappointment to another group: genetic counselors. These are the profes- sionals--most of whom hold master of science degrees--who have been specifically trained to communicate the risks of inherited disease recurrence to patients. The field of genetic counseling officially began in 1969, when Melissa Richter, Ph.D., and Joan Marks, M.S., started the first M.S. program at Sarah Lawrence College in Bronxville, N.Y., with financial backing from the Department of Health, Education and Welfare's Division of Allied Health Professions; the March of Dimes Birth Defects Foundation of Mamaroneck, N.Y.; and other private foundations. The first graduates went on to found many of the nation's other 19 programs. The first genetic counseling graduates of Sarah Lawrence worked in New York, where private and then state funds supported them for a few years. By the time funding dried up in New York and here, genetic counseling had become valued enough to be a billable service. In 1974, leaders in the fledgling field began speaking at meetings of the American Society of Human Genetics, informing its Ph.D. members of the existence of M.S. genetic counselors. In 1979 the National Society of Genetic Counselors (NSGC) was founded by Marks. In March 1992, the profession achieved a milestone with the debut of the Journal of Genetic Counseling. It is a bitter irony to some genetic counselors that the debut of the long-awaited journal was quickly followed by an offer by the American Board of Medical Specialties that would elevate the medical genetics profession, yet at the same time exclude the M.S.-level genetic counselors who had helped build it. To address hard feelings generated by the looming stratification, the presidents of NSGC, the American College of Medical Genetics, the American Board of Medical Genetics, and the American Society of Human Genetics sent a letter to their members at the end of June, announcing a plan "to create a Council of Medical Genetics Societies...with members possessing all types of degrees and certifications." The presidents of the organizations will meet in September. For more information, contact: American Society of Human Genetics and American Board of Medical Genetics 9650 Rockville Pike Bethesda, Md. 20814 Phone: (301) 571-1825 Fax: (301) 530-7079 National Society of Genetic Counselors 233 Canterbury Dr. Wallingford, Pa. 19086 Phone: (215) 872-7608 Fax: (215) 872-1192 --R.L. Currently, ABMS's list of approved subspecialties of medical genetics excludes genetic counseling--and the reason is the academic degree. According to the board, a master's degree is just not enough. "It was determined that the ABMS is primarily for physicians, and the Ph.D.'s were considered only because of their close relationship with physician clinical geneticists," says J. Lee Dockery, executive vice president of ABMS. Since 1980, the American Board of Medical Genetics (ABMG) of Rockville, Md., has administered certification exams for the various subspecialties, including genetic counseling. Now, if the offer of ABMS membership goes through, ABMS will take over certification for Ph.D. medical geneticists, who must complete two years in an approved postdoctoral medical genetics training program and present a log book of 150 cases. M.S. genetic counselors will still be certified, by a new American Board of Genetic Counseling. Matters of certification and the apparent snub of M.S. genetic counselors are just some of the issues and developments surrounding the field of genetic counseling, including the question of who is best suited and trained for it. But given the almost continual advances in research into inherited disease and the relatively small number of genetic counselors of all stripes, experts in the field say that demand for more of them is about to explode. @BODY SUBHEAD = Who Does Genetic Counseling? Genetic counseling is now provided by 630 certified counselors in the U.S., fewer than 20 of whom have Ph.D.'s, and by some of the 1,288 Ph.D.'s and M.D.'s in other genetic subspecialties. Others counsel, too. "There are physician counselors, nurses, social workers, even a special group of clergy trained in genetic counseling, because people often confront decisions that impact upon their religious beliefs," says Joseph McInerny, president and director of the Biological Sciences Curriculum Study in Colorado Springs, Colo., who holds an M.S. Altogether, probably fewer than 2,000 individuals provide genetic counseling services in the U.S.--hardly sufficient to meet the needs of state-mandated newborn screening programs, women undergoing amniocentesis, and the number of people living with inherited disease, genetic counselors say. "There is an impending shortage of genetic counselors, especially as we move into the prospect of population screening for cystic fibrosis, where the gene frequency is so high that the number of at-risk pregnancies will be extraordinary," McIn-erny says. "Somebody is going to have to do the counseling. There are not enough people, and physicians are not trained to interpret DNA tests and discuss Mendelian patterns of inheritance and probability." The number of diseases to be screened for is expected to rise considerably as the Human Genome Project spawns ever more diagnostic tests, experts say. Already the territory of medical genetics is expanding its focus from a long list of exceedingly rare disorders to incorporate more common ills with newly recognized genetic bases, such as heart disease, cancer, and diabetes. As the gap between the research laboratory and the clinic diminishes, the need for genetic counselors to translate discoveries into real-life implications for families increases, those in the field say. But can the Ph.D. geneticist, whose province is DNA, simply step into the the shoes of the genetic counselor? "It is a misconception that anybody can do genetic counseling," says Ed Kloza, who holds an M.S. degree and is a practicing counselor at the Foundation for Blood Research in Scarborough, Maine, as well as the president of the National Society of Genetic Counselors (NSGC), based in Wallingford, Pa. "I am concerned that people trained almost exclusively in laboratory science think that `because I know molecular genetics, statistics, and epidemiology, I can do genetic counseling.' That's not the way it is. You also need psychology, sociology, and interviewing skills." What is straightforward in theory can be difficult in practice, genetic counselors say. For instance, discussing the scientific details of extra chromosomes may be disturbingly inappropriate when a counselor is faced with a middle-aged infertility patient who, finally pregnant, has learned that the fetus has Down syndrome. Imparting the necessary information, which a Ph.D. geneticist could easily do, takes a back seat to helping the distraught woman confront her grief--and, possibly, her guilt-- skills that are not usually part of the scientist's training. But the genetic counselor must do both, and do them well, counselors say. Andrea White, a professor of biology at Stetson University in Deland, Fla., who is a certified genetic counselor, explains the difference in skills between a Ph.D. and M.S. genetic counselor. At the University of Florida in Gainesville, "Ph.D. genetic counselors were allowed to teach medical students, but M.S. counselors weren't," White recalls. But the M.S. genetic counselors were indispensable in the clinic, she says. "For very sensitive cases, the M.S. genetic counselors were brought in," says White. "They could anticipate and cope better with anger and yelling. Some patients need a lot of hand- holding and follow-up, and the M.S. genetic counselors were very good at this." A counselor must stifle personal opinion to try to view the situation as the patient does. For example, the decision to end a pregnancy in which the fetus has a genetic disorder might seem sensible based only on textbook descriptions of symptoms. But for a family in which a child, or even a parent, has the disorder, ending the pregnancy may constitute the rejection of a loved one already living. Physicians do genetic counseling when they talk to patients before and after exams and tests, but a genetic counseling session at GeneCare Medical Genetics Center in Chapel Hill, N.C., for example, typically lasts an hour. "We go over not only the family history, but any other concerns the patient might have. We explain the whole amniocentesis procedure and why it is needed, and test results," says Caroline Laundon, who has a Ph.D. and is the associate director at the private facility. "Genetic counseling is a blend of the scientific study of genetics, and the counseling, psychosocial aspects," says Bea Leopold, executive director of NSGC. Many of the nation's counselors received that training in one of the nation's 19 master of science programs in genetic counseling. Begun in 1991, the master's program in genetic counseling at Brandeis University in Waltham, Mass., for example, includes graduate courses in biology, counseling, law and ethics, and research methodology. Students then rotate through clinical laboratories, biotechnology companies, and public health agencies, completing internships in prenatal, pediatric, and general or special disease clinics. "The M.S. is a clinical degree, training to see patients. There is only slight variability from program to program, but they have special flavors," says Janice Edwards, assistant director of the genetic counseling master's program at the University of South Carolina School of Medicine in Columbia, who has an M.S. degree herself. "I've seen some M.S. programs that are mostly psychology and sociology and hardly any science, and others so science-oriented that they completely miss the social issues," says Suzanne Zamerowski of Yardley, Pa. Zamerowski does not have an M.S. in genetic counseling, but she has an R.N. and bachelor's and master's degrees in nursing, plus many biology courses and 13 years of teaching experience. She is a faculty member in the college of nursing at Villanova University How Does A Ph.D. Fit In? Right now, to work in a medical center or hospital, a genetic counselor, either with an M.S. or a Ph.D. (typically in genetics, epidemiology, public health, or clinical psychology) must be certified, says Jacqueline Hecht, director of the genetic counseling program at the University of Texas, who holds an M.S. in genetic counseling and a Ph.D. in epidemiology. But whether certification is necessary in a nontraditional setting, such as part-time in a private physician's office or on one's own, isn't clear. Says ABMS's Dockery, "Certification is voluntary. An uncertified genetic counselor might have trouble obtaining hospital privileges, but it would be very difficult to impose some sort of fine or ruling." Joseph McInerny adds that, before the profession was born in 1969 (see story on page 13), "there were Ph.D.'s trained in zoology talking to people about risks of recurrence, because no one had the understanding of Mendelian genetics, although they had no medical experience." Today nearly all Ph.D. genetic counselors are certified. Those with appropriate backgrounds whose Ph.D.'s predate the first certification exam in 1980 were "grandfathered" in. This was the case for Melba Wilson, a genetic counselor at the Center for Human Genetics in Bar Harbor, Maine, affiliated with the Jackson Laboratory in Bar Harbor. After earning her Ph.D. in bacterial genetics, she did postdoctoral research in endocrinology at the University of New Mexico and then at the Jackson Lab. "About 20 years ago, they were looking for someone to do human genetics. It was a tiny project, nonprofit, so I quit the research life and helped run it," she recalls. Wilson took the first genetic counseling certification exam, at Yale University, and passed, even though she had never had a formal course in genetic counseling. Today she continues to do genetic counseling and collaborates in epidemiological research. Similarly, Andrea White says that her Ph.D. genetics background prepared her for genetic counseling. After teaching population genetics at West Virginia University, White moved to Gainesville, where her husband was doing a residency at the University of Florida's J. Hillis Miller Health Center. "There were no positions in zoology, which is where I belonged, but there was a position in pediatrics. The geneticist had been trying to get an M.S. genetic counselor, but he was fed up. They were either unqualified, or they stayed a short time or didn't want to be in the middle of Florida. He felt it was easier to teach a geneticist to do counseling than it was to teach a social worker genetics," she says. White's most valued skill was her success in writing grant proposals, she says. "When I was hired, the first thing I was told was, `You wrote grants to NIH as a postdoc. Do it again.' I had been working on an animal model of spina bifida and folic acid supplementation, so I wrote a grant, it got funded, and all of a sudden, I had faculty status, was teaching medical students, and coordinating prenatal genetic counseling," says White, a certified counselor since 1984, who credits two M.S. genetic counselors with teaching her counseling skills. Some observers feel that, because Ph.D. training in genetics is excellent preparation for the certification exams, and in light of the anticipated growth of the field, recent Ph.D.'s perusing postdoc opportunities might want to seek out an ABMG-approved postdoctoral training program, available at most major medical centers. But for others a bit farther down on the career track and with a dual interest in genes and people, a new type of Ph.D. might be more appropriate. The Ph.D. In Genetic Counseling As the field of genetic counseling has grown, so has an entirely new area of research, which combines the biological and social sciences. Two new programs are currently in development leading this effort. Expecting its first students this fall is the Ph.D. genetic counseling program at the University of Pittsburgh. "There have been Ph.D.'s in human genetics for a long time. Most such folks pick a lab project on statistics or epidemiology. We wanted to encourage some candidates to do original research in an area of genetic counseling. Our goal is to produce someone who is equipped to hold his or her head up as a counselor and make a major commitment to a research career in genetic counseling issues. It can be very clinical, or very counseling-oriented," says John J. Mulvihill, chairman of the department of human genetics. The new Ph.D. program is not intended to produce graduates who will step on the toes of their M.S. colleagues, he says. "We're not trying to change the degree requirements for practicing genetic counseling. This program is for those committed to academics," Mulvihill says. Janice Edwards, exploring a similar program at South Carolina, predicts that "fewer than 5 percent of genetic counselors would have these Ph.D.'s." In some cases, these programs are quite similar to doctoral courses already being pursued by researchers and professionals in the health field. Suzanne Zamerowski, for example, had to fish around for an appropriate department in which to earn her Ph.D., necessary for tenure in her position at Villanova. She is doing her dissertation in a program at New York University called "Research and Theory Development in the Science of Nursing," which Zamerowski says has little to do with nursing. She is exploring anxiety in women offered prenatal diagnosis of chromosomal anomalies using chorionic villus sampling (recently linked to serious limb birth defects) because they have had a previous child with a chromosomal problem--clearly a genetic counseling topic. But some genetic counselors are less than enthusiastic about the idea of a Ph.D. "A Ph.D. in genetics already exists, and it may not be necessary to establish a specialized Ph.D. genetic counseling degree," says Hecht. Ricki Lewis has a Ph.D. in genetics and has practiced genetic counseling for six years. She is the author of Life, a college biology text (Dubuque, Iowa, Wm C. Brown, 1992).

Genetic Counselors Struggle For Status

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