6
Personnel Issues in Human Genetics

Historically, genetic tests have been administered and interpreted by highly trained health professionals working in academic health settings, usually with a strong genetics research and service record. In the future, however, genetic tests will become available for a growing variety of monogenic and complex diseases and for susceptibility to more common disorders such as breast, colon, and other cancers. Testing on such a broad scale will necessarily move us beyond the models of service delivery and professional roles that have characterized genetic testing and screening in the past. Increasingly, genetic tests will be offered and interpreted within the context of the mainstream of medicine in primary care practice—including pediatrics, obstetrics, internal medicine, and family practice in a variety of individual and group practice settings.

This exciting and challenging prospect for the future involves a large pool of potential personnel for genetic testing, screening, education, and counseling, but will they be prepared to play this role? How will primary care practitioners be trained to provide these services appropriately and to understand the complexities and limitations of genetic tests? How will they be trained to provide the nondirective counseling that is absolutely essential in reproductive decisions and in testing for disorders for which there is no effective treatment? Once trained, how will primary care practitioners keep up with the exponential growth in knowledge about the role of genetics in health and about genetic tests?

This chapter presents an overview of available data on specialized genetics personnel and primary care practitioners, as well as information on their training in and knowledge of genetics. The chapter also examines the personnel implications arising from the trends in genetic testing and screening discussed elsewhere



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Assessing Genetic Risks: Implications for Health and Social Policy 6 Personnel Issues in Human Genetics Historically, genetic tests have been administered and interpreted by highly trained health professionals working in academic health settings, usually with a strong genetics research and service record. In the future, however, genetic tests will become available for a growing variety of monogenic and complex diseases and for susceptibility to more common disorders such as breast, colon, and other cancers. Testing on such a broad scale will necessarily move us beyond the models of service delivery and professional roles that have characterized genetic testing and screening in the past. Increasingly, genetic tests will be offered and interpreted within the context of the mainstream of medicine in primary care practice—including pediatrics, obstetrics, internal medicine, and family practice in a variety of individual and group practice settings. This exciting and challenging prospect for the future involves a large pool of potential personnel for genetic testing, screening, education, and counseling, but will they be prepared to play this role? How will primary care practitioners be trained to provide these services appropriately and to understand the complexities and limitations of genetic tests? How will they be trained to provide the nondirective counseling that is absolutely essential in reproductive decisions and in testing for disorders for which there is no effective treatment? Once trained, how will primary care practitioners keep up with the exponential growth in knowledge about the role of genetics in health and about genetic tests? This chapter presents an overview of available data on specialized genetics personnel and primary care practitioners, as well as information on their training in and knowledge of genetics. The chapter also examines the personnel implications arising from the trends in genetic testing and screening discussed elsewhere

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Assessing Genetic Risks: Implications for Health and Social Policy in the report. The committee considered whether there will be enough adequately trained health professionals in the future to handle the potential volume, diversity, and complexity of genetic tests, and to perform specific functions in genetic services, such as laboratory testing, taking family history, diagnosis, education, counseling, technical support, and research.1 This chapter addresses the separate issues of specialized genetics education for specialists and genetics education for generalists (primary care practitioners), recognizing that both will be needed as more genetic tests become available. The following section focuses on current and future supplies of genetic specialists and their certification. The latter half of the chapter addresses, more broadly, the issues surrounding genetics education in medical school and general practice, and the potential role of other health professionals in providing genetics services. The chapter concludes with recommendations intended to help prepare the nation for changes likely to be brought about by widespread genetic testing. These recommendations include suggestions for research to better inform policy makers as they prepare for that future. GENETIC SPECIALISTS Many types of professionals provide specialized genetic services: physicians, Ph.D. clinical geneticists, genetic counselors, nurses, and social workers. Other individuals trained as research scientists are involved in genetics research. A large medical center that provides genetic services and conducts research is likely to employ individuals at all levels—master's, Ph.D., and M.D. Smaller private or community-based hospitals are likely to employ master's-level genetic counselors or nurses and physicians trained in genetics. Until recently, Ph.D. geneticists and genetic counselors were not able to see patients without the oversight of an M.D., but changes in the certification status of these individuals may change their roles in the clinical setting (see below). Although available data indicate that the numbers of individuals graduating from human genetics training programs are increasing, it is not clear that this increase is occurring at the rate necessary to ensure adequate and appropriate levels of support for genetic services in the future. Furthermore, the geographic distribution of genetic specialists will be critical in ensuring access to individuals needing genetic services. Currently, genetics professionals tend to be clustered in the Northeast and on the West Coast, as well as in the Chicago area. A survey of genetic counselors and nurses working in genetics showed a heavy concentration of counselors in five states, with 43 percent of respondents located in California, Illinois, New Jersey, New York, and Pennsylvania (OTA, 1992b). This uneven distribution of scarce genetic practitioners is even more limiting given the specialized expertise of many genetic centers in a relatively small number of genetic disorders. As a result, families must often travel long distances to receive specialized genetic services for a particular genetic disorder. Reimbursement policies regarding genetic testing also have a significant effect on personnel issues. Currently, genetic counselors cannot be reimbursed di-

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Assessing Genetic Risks: Implications for Health and Social Policy rectly; genetic counseling must be authorized and billed by a physician for insurance reimbursement. If these reimbursement practices continue, it is not clear whether full genetics services will be provided as needed, including essential education and counseling. Because primary care practitioners are able to obtain reimbursement for genetic consultation as a type of office visit, patients might be more inclined to seek care through this route than through a route that could involve out-of-pocket expenses (see Chapter 7). Some of the controversy about personnel needs stems from uncertainty about who will be providing genetic services in the future. For example, one study estimated that a minimum of 651,000 counseling hours would be required annually if the maximum estimate of 6 to 8 million preconceptional couples are screened for cystic fibrosis (CF) carrier status (Wilfond and Fost, 1990). Given the current number of practicing genetic counselors in the United States today, this translates to 17 weeks per year from each genetic counselor just to serve CF-related clients. This study concluded that CF screening could not be offered solely through specialized genetics centers; it is likely that this and genetic tests of significance in making reproductive decisions, such as carrier screening, will be offered increasingly by obstetrician-gynecologists. Background Data on Genetics Professionals As early as 1985—prior to the initiation of the Human Genome Project—concerns were raised about the availability of clinical genetics personnel. In a survey of 476 programs providing genetic services in the United States, 195 programs supplied data on predoctoral and postdoctoral trainees (Finley et al., 1987). A total of 524 students were enrolled in medical genetics training in the 195 training programs; of these, 224 (43 percent) were postdoctoral candidates, 193 (37 percent) were doctoral candidates, and 107 (20 percent) were master's candidates. The study also asked about the number of job vacancies, both current and anticipated, for the next five years: in 1985, there were 150 vacancies, of which 36 percent were for cytogenetic technicians, 27 percent for M.D. clinical geneticists, and 19 percent for genetic counselors. Over the period 1986 through 1990, more than 600 vacancies were anticipated by these 195 programs (Finley et al., 1987). The American Society of Human Genetics (ASHG)—a nonprofit professional society founded in 1948—serves as the primary scientific and professional society for all human geneticists in North America. It routinely surveys its membership as well as the graduate and postgraduate training programs from which its members come. Its 1989 survey gathered data on its approximately 4,000 members (Garver and Lent, 1990). Membership distribution according to highest degree obtained is 44 percent Ph.D.'s, 29 percent M.D.'s, 20 percent master's, and 7 percent M.D.Ph.D.'s. Graduate degree distributions appear to be changing (Table 6-1). In terms of current enrollment in human genetics training programs, 64 percent of the students are in Ph.D. programs (both predoctoral and postdoctoral), 22

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Assessing Genetic Risks: Implications for Health and Social Policy TABLE 6-1 Graduates from Human Genetics Training Programs, 1984-1992 Degree 1984-1985 1986-1987 1988-1989 1991-1992 Masters, Genetic Counseling 147 156 168 155 Other Masters 97 62 81 118 Subtotal 234 218 249 273 Doctoral, Ph.D. in Human Genetics 155 129 132 185 Postdoctoral         M.D. 108 134 159 157 Ph.D. 81 88 122 185 M.D./Ph.D. 3 1 6 7 Subtotal 192 223 287 349 Grand total 581 570 662 807   SOURCES: Riccardi and Smith, 1986; Friedman and Riccardi, 1988; Murray and Toriello, 1990; Blitzer, 1992. percent are in master's-level programs, and 14 percent are in M.D. or M.D-Ph.D. programs (Blitzer, 1992). Although there has been steady growth in the number of graduates of human genetics training programs since 1985 (807 individuals completed training in 1992, compared with 581 in 1985), postdoctoral fellows account for approximately 74 percent of the growth (Riccardi and Smith, 1986; Murray and Toriello, 1990). Many of these programs are not oriented to delivering clinical genetics services, particularly preparation in the behavioral sciences essential for genetic counseling. Also, since most Ph.D.-level geneticists enter into research- or laboratory-oriented activities, the growing number of Ph.D. postdoctoral students appears to indicate a trend toward research or laboratory careers. From limited available data, it appears that only a relatively small percentage of people attaining these doctorates enters medical genetics, although some of these Ph.D. geneticists are also likely to work in clinical laboratories. Since the majority of genetic testing is currently being done in research laboratories, some of this pool of Ph.D. geneticists is likely to be involved in human genetics and genetic testing and screening as part of research programs; however, most Ph.D.'s will not be providing traditional genetics services or practicing in traditional medical genetics settings. Since they do not have the clinical training required for some aspects of medical genetics, Ph.D.'s have often been discouraged from entering medical genetics. Individuals with M.S. degrees from established programs in genetic counseling are more likely to pursue traditional clinical genetics service careers. However, the number of graduates with an M.D. or M.S. has remained relatively stable, with only slight increases in the numbers of physicians specializing in genetics. Of those M.D.'s who do complete their training in genetics, most are in pedi-

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Assessing Genetic Risks: Implications for Health and Social Policy atrics (59 percent), followed by internal medicine (12 percent), obstetrics (10 percent), and ''other" (16 percent). As genetic tests for presymptomatic and predispositional assessment become more widely available, therefore, there may not be enough physicians trained to provide the necessary specialized genetics services, including the education and genetic counseling that will be essential if and when more widespread genetic testing and screening develop in the future. This will require close attention over the next three to five years. Another growing area of concern involves the effects of market forces on the training and career paths of genetics professionals. Anecdotal evidence suggests that commercial laboratories are drawing personnel away from academic laboratories. This poses problems for the future training of genetics professionals, since commercial facilities are less likely to provide advanced clinical training than academic centers. For example, the committee heard reports that commercial laboratories recently have begun to buy genetic testing laboratories in academic institutions and to discontinue fellowships and other advanced genetics training in those laboratories. Although there is a need for trained genetics personnel for research and laboratory testing, the readily available funding for research training appears to be leading more genetics students to enter career paths leading to potential research careers rather than to clinical genetics careers. Training Programs The total number of human genetics training programs increased slightly between 1984 and 1992, from 99 to 111 (see Table 6-2) (Riccardi and Smith, 1986; Friedman and Riccardi, 1988; Murray and Toriello, 1990; Blitzer, 1992). Approximately 40 percent of human genetics graduates have come from 10 percent of the human genetics training programs. The American Board of Medical Genetics (ABMG) accredits most U.S. human genetics training programs, although it accredits only the clinical training sites of the master's-level genetic counseling programs. ABMG certification by subspecialty is shown in Figures 6-1 and 6-2 and Table 6-3. TABLE 6-2 Number of North American Human Genetics Training Programs Programs 1984-1985 1986-1987 1988-1989 1990-1991 1992-1993 Total listings 99 106 120 120 111 Degree-granting 68 66 83 83 69 Nondegree-granting 31 40 37 37 42   SOURCES: Riccardi and Smith, 1986; Friedman and Riccardi, 1988; Murray and Toriello, 1990; Blitzer, 1992

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Assessing Genetic Risks: Implications for Health and Social Policy FIGURE 6-1 Number of certificates awarded by the American Board of Medical Genetics by subspecialty area, 1981-1990. FIGURE 6-2 Number of training programs and genetic counseling training sites accredited by the American Board of Medical Genetics (AMBG). Based on AMBG data as of May 1991.

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Assessing Genetic Risks: Implications for Health and Social Policy TABLE 6-3 ABMG Certification by Year and Subspecialty Area   No. of Diplomates per Exam Year     Subspecialty 1981 1984 1987 1990 Total No. of Certificates % of Diplomatesa Clinical biochemical 57 24 26 48b 155 9 Clinical cytogenetics 125 71 100 63 359 22 Genetic counseling 169 143 177 141 630 38 Clinical genetics 286 127 111 136 660 40 Ph.D. medical genetics 56 31 26 13 126 8 Total 693 396 440 401 1,930   a Percentage of total number of diplomates (N = 1,639); certification in more than one subspecialty possible. b Certified as biochemical-molecular geneticists (1990 only); since 1993 a separate subspecialty exam in molecular genetics has been available. SOURCE: Records of the American Board of Medical Genetics (1991). The curriculum of doctoral or postdoctoral training in human genetics has not been extensively reviewed. However, as part of the process of accreditation for their clinical training through ABMG, human genetics training programs must submit extensive data on their programs (see Box 6-1). Master's-Level Genetic Counselors The master's-level genetic counselor is a relatively new addition to the human genetics community. There are approximately 1,000 master's-level genetic counselors practicing in the United States, 100 times more than the 10 first graduated in 1971. To date, genetic counselors have been certified by the ABMG (currently 68 percent are certified), and their training has both reflected and shaped the requirements of that board. Genetic counselors formed their own professional organization in 1979, the National Society of Genetic Counselors (NSGC). Current membership includes more than 1,000 individuals working in the United States and several foreign countries. More than 80 percent of the members are in clinical practice, with most working in a university medical center or a private hospital (OTA, 1992b; Uhlmann, 1992). The curriculum of master's-level genetic counseling training programs has evolved over time and is a balance of medical genetics, practical and theoretical counseling, and behavioral sciences. During the 1970s, a series of meetings were held to discuss the role and educational needs of the genetic associate or genetic counselor (Genetics Associates, 1979). Then, in 1989, a conference held in Asilomar reevaluated recommendations for the minimum program curriculum of master's-level training in genetic counseling (Walker et al., 1990). The recommenda-

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Assessing Genetic Risks: Implications for Health and Social Policy BOX 6-1 ABMG Accreditation Requirements The American Board of Medical Genetics (ABMG) conducts an extensive review of doctoral and postdoctoral training in programs applying for its accreditation. Its application process includes: a brief history of the training program and program objectives; a list of faculty (where trained, degree, year of degree, and area of research); a description of each required and optional course offered, the number of contact hours, and to whom it is offered; a list of seminars offered in the last two years; an outline of weekly schedules and annual plans of activities for each subspecialty; a list of trainees over the last five years, including information on past history, number of years in training, present position, source of funding, and research area during training; a list of current trainees; data concerning clinical caseload such as number of cases by etiology and number of cases for inpatient consult, prenatal diagnosis, initial visits, or return visits; data concerning laboratory caseload (cytogenetic, biochemical, or molecular); and laboratory participation in and results of quality control audits. tions were based in part on requirements for certification through the ABMG. The need for and desirability of training beyond the master's level in genetic counseling (i.e., doctoral study) was also discussed along with alternatives to master's level training to overcome a projected shortage of genetic counseling personnel. A 1989 survey of NSGC members indicated that just over half of those responding saw a need for a doctoral (Ph.D.) degree in the field of genetic counseling, while 30 percent were undecided (Gaupman et al., 1991). To date, there is one program (University of Pittsburgh) offering a doctoral degree in genetic counseling. The Asilomar conference recommended a minimum curriculum at the master's level that includes seven specific didactic course work content areas, as well as a broad scope of clinical experience; these include principles and application of human genetics and related sciences; principles and practice of clinical and medical genetics; genetic laboratory methods; theory and application of interviewing and counseling; social, ethical, legal, and cultural issues; health care delivery systems and principles of public health; and teaching.

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Assessing Genetic Risks: Implications for Health and Social Policy The scope of clinical experience includes participation as primary genetic counselor in at least 50 cases, in three or more clinic settings (e.g., general genetics, prenatal diagnosis, specialty diseases); supervision by a geneticist or ABMG-certified genetic counselor; and demonstration of competence in the skills of genetic counseling. Experience in several additional areas was deemed desirable, but not mandatory, for minimum clinical experience, including service delivery, screening programs, cross-cultural issues, community and professional education, and clinic administration. Master's-level genetic counselors receive specialized multidisciplinary training and experience to prepare them for counseling related to a wide variety of genetic disorders, including late-onset adult disorders, as well as birth defects. The committee strongly recommends the incorporation of these essential areas into all genetic counseling curricula, particularly as new programs develop. Over the past 20 years, master's-level graduate programs in genetic counseling have increased to 14 in the United States, and one in Canada (see Table 6-4). Combined, they produce approximately 81 graduates each year (77 in the United States and 4 in Canada), but 30 percent of all graduates in a given year come from one training program, Sarah Lawrence College (New York), the oldest program in the United States. TABLE 6-4 Master's-Level Programs in Genetic Counseling in the United States and Canada School Average No. of Graduates per Year Howard University 3 Medical College of Virginia 1 Northwestern University 4 Sarah Lawrence College 23 University of California, Berkeley 8 University of California, Irvine 3 University of Cincinnati 2 University of Colorado 5 University of Michigan 4 University of Minnesota 3 University of Pittsburgh 12 University of South Carolina 3 University of Texas, Houston 1 University of Wisconsin, Madison 5 McGill University, Canada 4 Total 81   SOURCE: Riccardi and Smith, 1986; Friedman and Riccardi, 1988; Murray and Toriello, 1990; Blitzer, 1992.

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Assessing Genetic Risks: Implications for Health and Social Policy BOX 6-2 Genetic Counseling Personnel in New York State A recent, limited pilot survey was conducted by Zinberg and Greendale (1991) to assess whether a shortage of genetic counselors existed in New York State in 1990. In their study, 57 comprehensive and specific genetic disease centers were asked about their level of genetic counselor staffing. A total of 103 ABMG-certified or board-eligible genetic counselors were employed at the 57 centers. Ninety-four percent of these were graduates from an NSGC-recognized genetic counseling training program. This study also examined the overall attrition rate and found it to be very high. In the previous two years, 56 genetic counselors had been hired, the majority of whom were to fill 34 positions left vacant in New York by staff departures. Recognizing the need for additional genetic counselors, the state of New York developed two new initiatives to meet personnel demands. First, a new certificate program is offered by the Division of Medical and Molecular Genetics at Mt. Sinai Medical Center to prepare individuals with master's degrees in related fields for ABMG certification in genetic counseling. Second, as part of their request for funding for genetic services, New York genetics providers may now obtain partial support, in the form of salary, stipend, or scholarship, for a graduate student enrolled in a master's-level program in genetic counseling. Once graduated, the student would be committed to work at the sponsoring institution for a period of three years. Training support for master's-level genetic counselors has been minimal. The U.S. Department of Health and Human Services (DHHS) provides no financial support for the training of genetic counselors or for improving genetics education in medical schools (Holtzman, 1989). However, the Maternal and Child Health Program of DHHS's Health Resources and Services Administration provides support to the Council of Regional Networks for Genetic Services (CORN) for some continuing professional education programs for physicians and postdoctoral students, but not for master's-level counselors. The same explosion of new genetic information affects genetic counseling, and continuing education is just as essential for genetic counselors (NSGC, 1991; Gettig, 1992). Although an average of 77 graduates entered the nation's work force annually from 1984 to 1992, the demand for genetic counselors continues to exceed the available supply. According to the NSGC executive office, from 1988 to 1991 there were at least 35 unfilled genetic counseling positions listed with its Jobs Hotline at any given time. The total number of unfilled positions nationwide is unknown. However, an attempt to answer this question for the state of New York suggests that the number is high (see Box 6-2). Finally, there appears to be some attrition of existing master's-level genetic counselors into full-time administration or away from the profession altogether. Not nearly enough is known at this time

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Assessing Genetic Risks: Implications for Health and Social Policy about how many master's-level genetic counselors are now or will be needed, since so many uncertainties exist about the nature and scope of their role in the future. Non-Master's-Level Counselors Research to examine a "train-the-trainer" model for increasing the availability of genetic counseling in the United States is being supported by the Ethical, Legal, and Social Implications (ELSI) Program of the National Center for Human Genome Research at the National Institutes of Health (NIH). As the profession has developed, master's-level counselors have begun taking on the role of trainers of other health professionals. In some clinical settings, master's-level genetic counselors are training non-master's-level individuals to meet the demand for patient education related to a single diagnostic category of disease. In other settings, non-master's-level individuals assist genetic counselors in overcoming cultural, linguistic, geographic, or economic barriers. Individuals who assist genetic counselors, often called "single-gene counselors," "single-disorder counselors," or ''non-master's-level counselors," do not have the same training as master's-level genetic counselors and have not been eligible for ABMG certification. With the growth of genetic services and increasing demands on the time and resources of traditionally trained counselors, the use of these individuals has stimulated debate. A number of programs have been developed to train non-master's-level educators or counselors (see Box 6-3). Advocates for the use of single-disorder counselors cite the limited number of practicing genetic counselors and the increasing development of genetic testing as reasons to support this type of training. Single-disorder counselors could also improve the quality of service in underserved, culturally diverse populations that are disproportionately affected by a particular genetic disease (OTA, 1992a). Those opposed to single-disorder counselors express concern about what they view as a lack of genetics and genetic counseling training. There is also concern about whether single-disorder counselors have a broad enough view of clinical genetics to identify complex and obscure risks of other genetic disorders in their patients. Since taking a family history often exposes previously unknown or undiagnosed genetic disorders or predispositions, individuals who focus on one category of disease might not recognize the need to further investigate peripheral information. An NSGC task force made the following recommendations to the society: acknowledge the current and predicted personnel needs for genetic counselors, as well as the shortage of master's-level genetic counselors; recognize the existing use of non-master's-level counselors and the benefits they offer; educate NSGC membership regarding the potential use of these individuals;

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Assessing Genetic Risks: Implications for Health and Social Policy TABLE 6-6 Basic Science Prerequisites in Genetics for a Clerkship in Obstetrics and Gynecology I. Define the following basic genetic terms and mechanisms A. The structure of the nucleic acids B. Cell division C. Chromosomal abnormalities D. Molecular genetics E. Linkage, crossing over, and chromosome mapping F. Diagnostic techniques II. Describe the manifestations and mechanisms for detection of abnormal inheritance A. Single-gene inheritance B. Sex chromosomal anomalies (risk, characteristics) C. Autosomal anomalies III. Describe laboratory and special studies A. Tissue culture techniques B. Karyotype construction and interpretation C. DNA testing   SOURCE: Association of Professors of Gynecology and Obstetrics, 1992. cine, among other subjects. This home-study program can also provide continuing medical education credits for participating physicians. In addition to continuing medical education, informal learning occurs in contacts between genetics specialists and referring physicians. This is particularly true for physicians frequently exposed to genetic conditions, such as obstetricians and pediatricians, who tend to score higher on tests of genetic knowledge than do physicians with little clinical exposure (Hofman et al., 1993). The clinical ''need to know" may be the best motivator for genetics education. As more genetic tests are available, the need to know will inevitably grow. Professional Statements, Guidance, and Proficiencies Many medical and scientific organizations issue standards and guidelines for practice regarding drugs and procedures, including genetic tests and procedures that might serve an educational purpose. For some physicians, these guidelines and directives might be influential in their decision making regarding incorporation of new tests and procedures. Concerns about protection from professional liability may play an important role in the development of professional standards and guidelines, and may influence the speed with which genetic tests are adopted into clinical practice. The American Society of Human Genetics and the American College of Obstetricians and Gynecologists (ACOG) have issued several statements in the past

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Assessing Genetic Risks: Implications for Health and Social Policy decade recommending particular courses of action (or inaction) regarding genetic tests and procedures. For example, the ASHG (1992) has issued statements regarding cystic fibrosis carrier screening, and MSAFP screening (see also Garver, 1989; Caskey et al., 1990). In 1986, ACOG suggested that obstetricians discuss the availability of the MSAFP test with their pregnant patients, but recommended against routine use of MSAFP screening in all pregnancies; ACOG issued a medical liability "alert" recommending that obstetricians offer every pregnant woman screening for elevated MSAFP to detect increased risk of certain genetic disorders (ACOG, 1985, 1986, 1991). In 1987, ACOG issued guidelines for the use of antenatal diagnosis of genetic disorders. This technical bulletin (ACOG, 1987) serves as an educational aid to obstetrician-gynecologists and contains information on taking a genetic history, indications for prenatal genetic studies, technical considerations for amniocentesis, chorionic villus sampling, fetal visualization, fetoscopic tissue sampling, and molecular genetics in prenatal genetics. The standards require that physicians obtain the following information in evaluating genetic risk: (1) advanced parental age; (2) previous offspring with a chromosomal aberration; (3) chromosomal abnormality in either parent, particularly a translocation; (4) family history of a sexlinked condition; (5) family history of an inborn errors of metabolism; (6) family history of a neural tube defect; (7) family history of hemoglobinopathies; and/or (8) ancestry, indicating risk for Tay-Sachs disease, beta-thalassemia, or alphathalassemia. OTHER HEALTH PROFESSIONALS Other professional groups could (and sometimes do) provide essential genetic counseling and support services. Other health professionals now playing or likely to play a critical role in providing genetic services include nurses, social workers, and public health workers. Key issues concern the training of other professionals to provide essential genetic services and how their services will be overseen. Nurses in Genetics There are nearly 2 million registered professional nurses in the United States, many involved in maternal and child health nursing, providing a unique potential to contribute to the effective delivery of genetic services. In some settings—such as community, occupational, or school health—nurses may be the only link with the health care system (Forsman, 1988; Jones, 1988). Thus, nurses can assist in the identification, education, counseling, and follow-up of patients (Fibison, 1983; Jones, 1988; Thomson, 1992). Yet although nurses can be a valuable part of genetics services, to date they are a largely untapped resource (Forsman, 1988).

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Assessing Genetic Risks: Implications for Health and Social Policy For nearly 30 years, it has been suggested that human genetics be included in the nursing curriculum (Brantl and Esslinger, 1962). A 1980 workshop on education in genetics for nurses and social workers developed academic criteria; didactic course work and clinical experience requirements for training as a master'slevel clinical nurse specialist in genetics were developed in graduate programs in schools of nursing, were developed (Forsman and Bishop, 1981) (see Box 6-8). Candidates must meet the same academic admission requirements defined by the National League for Nursing accredited maternal child nursing program with a clinical nurse specialist option. Despite this attention to the importance of genetics in nursing education, a 1984 survey of nursing instructors revealed that most schools dedicated less than 10 hours to genetics instruction, with little clinical experience (Forsman, 1988). Only four of the 200 universities in the United States that offer graduate degrees in nursing have established programs providing a master's-level genetics major (Forsman, 1988). A small number of nurses, particularly those in maternal and child health nursing, have been certified in genetic counseling by the ABMG (Forsman, 1988; OTA, 1992b). More than 100 nurses are employed in genetics, according to the International Society of Nurses in Genetics (ISONG). Social Workers in Genetics Social workers can play an important role in genetics services delivery, particularly in underserved communities. Social workers also have contact with many clients with genetic conditions in medical settings, such as facilities for high-risk infants, or pediatric, neurological, endocrine, and other specialty clinics. Other social work settings that might require some genetics expertise include family planning services, adoption and child welfare agencies, child guidance clinics, public health programs, agencies serving the mentally retarded and their families, and departments that serve developmentally and physically disabled clients (Schild and Black, 1984). A 1980 conference (see Box 6-8) recommended that all social workers be provided a working knowledge of genetic diseases, their etiology, and consequences. In 1986, the Council on Social Work Education published a guide to genetic content for graduate social work education (Rauch, 1986). Nevertheless, only 9 of almost 100 accredited social work graduate programs in the United States offer special courses on genetic topics (Friedman and Blitzer, 1991). A course in genetics is offered to nurses and social workers in Washington, D.C. (see Box 6-8). Public Health Similarly, public education in genetics requires increased commitment at the public health level (also see discussion in Chapter 5). This requires educating

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Assessing Genetic Risks: Implications for Health and Social Policy BOX 6-8 Education in Genetics for Nurses and Social Workers NURSING In 1980, a workshop "Education in Genetics for Nurses and Social Workers" was sponsored by the Office of Maternal and Child Health to explore training and recommend service needs for nurses and social workers in genetics. The conference recommended that all nurses be provided a working knowledge of genetic diseases, their etiology, and consequences, and developed academic criteria, a list of didactic course work in human and medical genetics, and clinical experience required for training as an MSN clinical nurse specialist in genetics (Forsman and Bishop, 1981). Training occurs in graduate programs in schools of nursing. Candidates must meet the same academic admission requirements defined by the National League for Nursing accredited maternal child nursing program with a clinical nurse specialist option. Didactic course work in both human and clinical medical genetics is required, including: patterns of inheritance cytogenetics immunogenetics biochemical genetics developmental genetics population genetics  pharmacogenetics chromosomal disorders Mendelian disorders congenital malformation prenatal diagnosis genetic counseling ethical, legal, and social issues in genetics Although genetics is generally a part of the nursing school curriculum, but that offer graduate degrees in nursing, only four have established programs providing a master's-level major in genetics (Forsman, 1988). again, programs vary (Forsman, 1988). Of the 200 universities in the United States A course in genetics is offered to nurses and social workers in Washington, D.C., and is funded by the Genetics Services Branch, Division of Maternal and Child Health, Office of Research and Training, Health Resources and Services Administration, in the Department of Health and Human Services. The course introduces the fundamental concepts of human genetics and provides for learning the skills of screening and identification, referral, case management, and health education. A small number of nurses, particularly those in maternal and child health nursing, have specialized in genetics in order to sit for the genetic counseling examination given by the ABMG (Forsman, 1988; OTA, 1992b; Thomson, 1992). According to ISONG, more than 100 nurses are employed in genetics; 48 percent of its members have a master's degree and 11 percent doctoral degrees; 43 percent have achieved certification in genetics or a nursing specialty; 37 percent have had 10 or more years of experience in genetics; and 85 percent have had 10 or more years of experience in nursing. SOCIAL WORK This conference also recommended a working knowledge of genetics for all social workers, including an understanding of the etiology and implications of genetic disorders. The Council on Social Work Education published a guide to genetics education for social workers (Rauch, 1986)

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Assessing Genetic Risks: Implications for Health and Social Policy public health professionals about pertinent issues related to medical genetics and changing the attitudes and staffing patterns of key state agencies (Cunningham and Kizer, 1990; Davis, 1990). Yet a survey of curricula at member schools of the Association of Schools of Public Health indicated a decrease in the number of schools offering human genetics as a major area of study (Friedman and Blitzer, 1991). Few schools of public health offer genetics as part of their curriculum, and in none is it required (Schull and Hanis, 1990). The limited attention given to genetics in schools of public health is troubling. Genetic testing will become an increasingly important aspect of health and social policy as more tests are developed. Some genetic testing programs—especially newborn screening—directly involve public health agencies. FINDINGS AND RECOMMENDATIONS As the availability of genetic tests increases and testing becomes more commonplace, it is likely that genetic testing will follow the path of other technological innovations in health care, and will be ordered and interpreted by primary care physicians, including pediatricians, obstetrician-gynecologists, internists, and general practitioners. There seems to be no prospect, in the foreseeable future, of having enough highly specialized genetics personnel to handle all genetic testing, including essential genetics education and genetic counseling. Although the number of individuals being certified in clinical genetics has been increasing, it is not clear that this is occurring quickly enough to ensure adequate and appropriate levels of support for greatly expanded genetic testing, education, and counseling in the future. Indeed, much of the manpower increase has gone to research, rather than to clinical genetics. As a result, the role of the genetic specialist as the primary provider of genetic services is likely to change in the future. Genetic specialists will be called upon to play an important and expanded role in three areas: (1) continuing to provide genetic testing and counseling for disorders with the most complex interpretations and implications; (2) training and continuing education for other professionals in genetics and genetic counseling (Waples et al., 1988); and (3) seeing people in need of specialized genetic services referred by many more professionals (see discussions in Chapters 2 and 4). As genetic tests penetrate increasingly into the repertoire of primary care providers, it is likely that genetic specialists—be they master's-level genetic counselors, Ph.D.'s, or physicians—will continue to receive referrals from primary care providers of individuals with positive test results or psychosocial concerns that require more intensive follow-up. With training from genetic specialists, other health professionals, such as nurses, nurse practitioners, social workers, psychologists, and physicians, could be integrated into the existing genetics network. Two issues should be addressed in terms of professional education in order for new genetic tests to be assimilated into medical practice in an appropriate

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Assessing Genetic Risks: Implications for Health and Social Policy manner. First, the committee recommends efforts to train more genetics professionals with the skills needed for adequate and accurate education, diagnosis, and counseling to (1) expand the pool of teachers in human genetics; and (2) meet the expected increase in referrals from primary care practitioners. This means increasing support (and funding, as appropriate) for the following: Training of master's-level genetic counselors. The committee recommends that, at least, the current number of genetic counseling graduates be maintained annually. This area will require close consideration over the next few years as genetic testing, education, and counseling services expand. In addition, the committee recommends funds for the training of master's-level genetic counselors, including stipends to attract minority students to this field. Because of the rapid development of new knowledge in genetic testing, the committee also recommends the development of formal continuing education programs for genetic counselors. Development and evaluation of programs for single-disorder educators-counselors. Programs should use innovative methods and personnel including the use of single-disorder educator-counselors drawn from the populations they are intended to serve. Evaluation should focus particularly on the types of methods or personnel necessary to provide specific kinds of genetic education and counseling, settings in which these services should be provided, and the training and support required if these innovative approaches are to be successful. The committee recommends that genetic counseling and education be considered essential components of the standard of care, not only for specialized genetics personnel, but also for physicians, particularly primary care practitioners, who offer and interpret genetic tests. The committee endorses the core content areas identified by the ASHG task force, particularly the inclusion of ethics. However, the committee strongly recommends the addition of attention to patient education and counseling in genetics to this list of core subjects that should be understood by medical students by the time of graduation, and that national board examinations and specialty examinations for primary care specialists include more questions on genetics. The committee also commends CREOG and APGO for establishing standards and basic proficiencies for genetic counseling, and it recommends that other specialties follow their example. The committee strongly recommends the expansion of continuing medical education programs in clinical genetics, including those geared to the primary care practitioner, and the development of additional continuing medical education programs to improve the knowledge and skills of currently practicing physicians in genetic testing, education, and counseling. This should include physician fellowships and postdoctoral support for training in clinical genetics, not only support for research training and research careers; postdoctoral education in human genetics in the form of intensive two-week courses or summer courses; and predoctoral graduate students in genetics and molecular bi-

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Assessing Genetic Risks: Implications for Health and Social Policy ology to take appropriate human genetics classes intended to increase the understanding of medical genetics (such as those offered by medical school faculties). To ensure that genetic tests are administered in an appropriate manner, the committee recommends reform of the education of physicians and other health professionals who are not trained as geneticists to include increased attention to basic genetics; in particular, training of medical students to deal with the sensitivities of genetics education and the need for nondirectiveness, especially in counseling about reproductive options and about disorders for which no treatment exists; reform of medical education should begin to incorporate a genetic point of view throughout its curriculum to enable physicians to recognize that human variability exists in the pathogenesis of human disease; training for genetics professionals and others offering or referring for genetic testing in the ethical, legal, and social issues surrounding genetic diagnosis, testing, and screening; training for laboratory personnel in order to understand the complexities of genetic testing so as to adequately interpret tests with a knowledge of test limitations and a sensitivity to the social issues surrounding genetic testing; more research on knowledge of genetics and skills needed for genetics education and genetic counseling among all of the professional groups discussed in this report so that proper reforms can be implemented, and establishment of basic proficiencies in genetics for physicians, nurses, and social workers. The committee also recommends the development of formal continuing education and training for genetic counselors and other professionals . Geneticists should also take a leadership role in genetics education for the public. Other health care professionals should also participate in programs intended to increase public awareness and education about genetics. The committee believes that with proper training, the integration of other health professionals such as nurses, nurse practitioners, social workers, psychologists, and primary care physicians, into the existing genetics services network will supplement the time and skills of the traditional genetic counselor. Consequently, the committee strongly recommends expanded undergraduate and graduate training of nurses and social workers in the special requirements of genetics, genetics education, and genetic counseling. The committee recommends that public health professionals have training to ensure that they understand the underlying science of genetics and genetic testing, as well as the ethical, legal, and social issues outlined in this report.

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Assessing Genetic Risks: Implications for Health and Social Policy The committee recommends the recruitment of more minorities for training programs in all aspects of clinical genetics. This will be especially important in providing culturally sensitive and appropriate genetic testing, education, and counseling services in the future when so-called minority groups will comprise a majority of the population of the United States (see Chapter 4). The committee also recommends the development and evaluation of innovative on-line computer and interactive computer systems to disseminate the latest information on genetic disorders and on recommendations and guidelines for genetic testing. This is one way to improve the quality of genetic testing, education, and counseling services in the future (e.g., through the program of the National Library of Medicine (NLM) and the American College of Physicians for ACP members to have on-line access to the resources of the NLM). The committee believes that the NLM is an excellent mechanism for providing access to critical information on genetics and recommended criteria for genetic testing, genetic counseling, and follow-up care to members of ACP and other interested professional groups. The ELSI program should coordinate with professional genetics organizations and the NLM to develop such a genetics education and dissemination program for interested health professionals. NOTE 1.   In its deliberations, the committee had the benefit of a 1991 background paper on professional personnel issues in human genetics developed by Ann C.M. Smith, M.S. (a consultant to the committee), and committee staff members, Jane Fullarton (Study Director) and C. Elaine Lawson (Research Assistant). Additional data (for 1992) were provided by Kathi Hanna, D.P.A., who provided technical consulting to the committee on parts of this chapter. The committee particularly benefited from access to new data on physician knowledge of basic genetics (Hofman et al., 1993). REFERENCES Acton, R., et al. 1989. Use of self-administered family history of disease instruments to predict individuals at risk for cardiovascular diseases, hypertension and diabetes. American Journal of Human Genetics 45(S):A275. American College of Obstetricians and Gynecologists (ACOG). 1985. Professional Liability Implications of AFP Testing (Liability Alert). May. Washington, D.C. American College of Obstetricians and Gynecologists (ACOG). 1986. Prenatal Detection of Neural Tube Defects. ACOG Technical Bulletin No. 99. December 1986 (replaced Technical Bulletin No. 67. October 1982). Washington, D.C. American College of Obstetricians and Gynecologists (ACOG). 1987. Antenatal Diagnosis of Genetic Disorders. ACOG Technical Bulletin No. 108. September 1987 (replaced No. 34, January 1976). Washington, D.C. American College of Obstetricians and Gynecologists (ACOG). 1991. Alpha-Fetoprotein. ACOG Technical Bulletin No. 154. April. Washington, D.C. American Society of Human Genetics (ASHG). 1992. Statement of the American Society of Human Genetics on cystic fibrosis carrier screening. American Journal of Human Genetics S1:1443-1444.

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