- Email: [email protected]
Evolution of the Nursing Role in Genetics
Evolution of the Nursing Role in Genetics Irene Forsman, RN,MS
The role of the nurse in the delivery of genetic counseling services initially was developed by nurses working in multidisciplinary teams serving the developmentally disabled and mentally retarded. Both the characteristics of the role and the need for didactic content and clinical experiences were well articulated as early as the early to mid-1960s. Since that time, many nurses have published their interpretations of the role in light of their individual practice and the state of the art. The basic elements of case finding and referral, explaining the process of genetic evaluation and counseling to families, constructing a family pedigree, assisting the family in gathering records and documentation, clarifying genetic inforniation, and providing long-term management assistance remain basically the same. What changes is the information available and the population to which the information may be applied. Prenatal diagnosis and the identification of individuals at risk for common disorders are two good examples of change based on emerging scientific information.
uring the next decade we are likely to see a major expansion of school and adolescent health clinics. School nurses will increase in number, improve their primary care skills and b e in a position to observe and evaluate the school age population for genetic risk. I n addition, those nurses will be involved in the care of more youngsters affected by a genetic disorder because more of these children and adolescents are surviving to adulthood. A recently published manual for school nurses o n the care of children with genetic disorders is devoted to care of the child with sickle cell disease (Schwab, Fibison, &Wright, 1993). An additional chapter on spina bifida is to be prepared this year. Finally, although Hillsman (1966) provided the prototype for the state-level nurse consultant with responsibility for genetic services in Ohio, a number of states have used nurses in similar positions with broad responsibility for patient follow-up, professional consultation, and data collection (Peppe, 1993).
Ju[v/August 1994
Scientific knowledge in human and medical genetics has expanded rapidly during the last half of this century. Recently, advances in the area of molecular genetics and the national and international collaborative efforts to map the human genome lead us to believe that w e will continue to accumulate knowledge about the contribution of genetics in health and disease at an even more rapid rate (Thompson, McInnes, & Willard, 1992). The primary importance of this knowledge is in its clinical application to diagnose conditions and counsel individuals and families known o r suspected to b e at risk for a genetic disorder. This article describes the evolving roles of nurses in the delivery of genetic services. A historical context for development of the nursing role includes not only the advancing science and its applications in clinical situations, but also changes within the nursing profession. The development of the clinical nurse specialist and nurse practitioner roles that occurred during the 1960s and early 1970s enabled nurses to perceive genetic counseling services as an important component of health care and o n e in which they would have a critical role (Lewis, 1970). Legislative changes at the state and the federal level also influenced the development of the nursing role in the delivery of genetic services. These changes provided for many more health professionals to practice in the genetic services delivery system.
Background There have been many important contributions to the understanding of human genetics in the first half of the 20th century. However, it was not until the second half of the century that the significance of genetics to medicine began to be fully appreciated (Reed, 1979). During the 1950s advances in biochemical genetics made possible the early detection of phenylketonuria (PKU), a n autosomal recessive genetic disorder that results in moderate to severe mental retardation if dietary treatment is not initiated during the first few weeks of life. A urine test to screen infants for the condition was performed by providers of well-baby care. In public child
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In 1962, Brantl and Esslinger, two nursing educators, recommended that human genetics be included in the
content of basic nursing education. They said that knowledge of genetics was needed by nurses “to enhance and enrich the care of patients and their families” (p. 91). The nurse’s role was defined to be one of “helping families and individuals cope with a given inherited characteristic and providing them with the reliable scientific information they may need to understand the cause of the inherited characteristic” (p. 99). It also was suggested that the nurse might provide information directly, reinforce information given by a physician, and suggest appropriate referrals for additional family support services. These authors said that the well-informed nurse also would recognize that other family members might be at risk and counsel them about the specific condition and the need for medical follow-up (Brantl & Esslinger, 1962). Nursing educators generally did not act on the advice of Brantl and Esslinger at that time. However, nurses working with tertiary-based genetic counseling teams, those providing services to individuals with mental retardation and their families, and those in public health settings began to describe their experiences in the delivery of genetic services by documentation in the nursing literature. Because most nurses were not well educated about basic principles of human genetics or medical genetics, many of the articles included a substantive discussion of current advances in human and medical genetics. In addition to their contributions to the nursing literature, the nurses began to provide didactic content in genetics through continuing and formal educational programs to a wide rahge of students, health professionals, and the public. A discussion of the nursing role was included for nursing audiences. Jolly, Blum, Keyes, and Smith (1965) described a program initiated in 1963 in which public health nurses were taught to construct the family pedigrees in families of children with chronic diseases, after it was recognized that many of those diseases had a hereditary component. In addition to benefiting the families by providing information that was useful, this experience was described as facilitating the education of the nurses about genetic conditions and for strengthening the physician-nurse counseling team. The nurses found they increased their understanding of family relationships, identified areas for health education, improved their interviewing skills, and generally strengthened their rapport with families (Jolly et al., 1965). In 1966, Forbes summarized advances in cytogenetics and additionally described the role of the public health nurse in the delivery of genetic services. This role included case finding, obtaining a family history, talking with the family about the reasons for referral, and explaining what would happen to the family during the process of genetic evaluation. The public health nurse also was responsible for scheduling and coordinating appointments, collecting specimens from the patient and other family members, clarifying genetic information for the family, and acting as liaison between the family and the clinic for long-term follow-up and possible future studies. In addition to the direct service aspect of the
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health clinics, the test was performed by public health nurses. These nurses were concerned primarily with identification of a child at risk for mental retardation and not with the genetics of PKU. The urine test was replaced in 1961 by the Guthrie test, a simple, inexpensive, and more accurate test involving a heel-stick blood sample collected on filter paper before a newborn infant was discharged from this hospital (Centerwall et al., 1960; Guthrie, 1961). In 1962, the state of Massachusetts initiated the first statewide program of newborn screening for PKU (Macready & Hussey, 1964). The role of the public health nurse shifted from merely performing the test, to being responsible for the follow-up of children who required a diagnostic evaluation after an abnormal screening result and assistance to the family in the long-term care of the affected infant and child (Hillsman, 1966). By 1985, 48 states and the District of Columbia had adopted legislation regarding newborn screening for PKU and other metabolic disorders (Andrews, 1985). A detailed discussion of disorders for which newborn screening is performed is found in a recent article bywright, Brown, and Davidson-Mundt (1992). Concurrently with advances in biochemical genetics were discoveries in cytogenetics, the study of chromosomes. In 1956, the correct number of chromosomes in humans was established as 46 (Tijo & Levan, 1956). In 1957, it was noted that the condition which was then called Mongolism, now referred to as Down syndrome, was consistently associated with an extra chromosome 2 1 (Lejeune, Gautier, & Turpin, 1959). During the next several years, most of the gross chromosome abnormalities of clinical significance were identified. Scientific and technologic advances in biochemical genetics and cytogenetics continue to contribute to our knowledge and understanding. The early developments in clinical genetics occurred primarily in pediatric programs serving the mentally retarded. Such programs presaged the development of genetic counseling programs, which were established in virtually every university medical center in the United Sates by 1980 (National Clearinghouse for Human Genetic Disease, 1980). The programs offered diagnosis and counseling to couples. The risks to future offspring and to other family members of recurrence of a specific condition were discussed, and assistance in the care of the affected individual was provided. Although most genetics programs characterized themselves as consultative in nature, many provided long-term follow-up, either directly or in consultation with a primary care provider. Counseling included a discussion of reproductive options. These were limited until the mid-1970s when midtrimester amniocentesis for prenatal diagnosis became widely available. The long-term follow-up proved to be a good mechanism for reaching o u t to couples who might benefit from advancing science and technology.
Emly Development of the Nursing Role
Genetics,Birth Defect$!and Environmental Hazards
nursing role, the continuing education and research activities were briefly discussed (Forbes, 1966). Hillsman, in her capacity as the nursing consultant and coordinator of the PKU program in the Ohio Department of Health, described her experiences with families needing genetic services and with the public health nurses caring for them. Embedded in the discussion are the elements discussed by Forbes, with a major emphasis on the family support role of the nurse in clarifying and reinforcing genetic information and in assisting the family with the care of the child. A companion article provided an in-depth discussion of genetic services and common reasons for referral (Hillsman, 1966). In 1967,Jacobsen and Barter published their experiences with midtrimester amniocentesis disorders. This new tool for genetic diagnosis opened yet another role for nurses focusing on the need for support for couples undergoing prenatal diagnosis. For the first time, it was possible to offer a test that allowed couples to avoid a known risk. Women older than 35 years of age and thus at higher risk of having a child with a chromosomal disorder represented the largest group of individuals for whom prenatal diagnosis was indicated. Couples in which each partner carried a gene for the same autosomal recessive disorder (for example, Tay Sachs disease) are another group for whom prenatal diagnosis became an option. The nurse involved in prenatal diagnosis counseling provides accurate and complete information about the procedure, its risks, benefits, and limitations. The nurse also is pre‘pared to provide support to couples throughout the process. The emotional toll of deciding to establish a pregnancy, waiting until the pregnancy is advanced enough to use prenatal diagnostic procedures, and anticipating results can be overwhelming. “Prenatal Diagnosis in the 1990s” appears elsewhere in this symposium. In 1971, Schimpeler and Ebbin noted that a survey of nursing publications revealed little information about advances in genetics in journals accessible to nurses. They reviewed the state of knowledge relative to the diagnosis of chromosomal disorders and recurrence risks. They approached the discussion of the nursing role from the standpoint of the public health nurse and focused on the support role, including the provision of simply stated, but scientifically accurate, information for families, including extended family members. In the 1970s, the role of the nurse in genetics was additionally defined. Farrell (1974) stated that nurses, provided they are well prepared in the clinical areas and the basic sciences, are well suited to provide genetic counseling, with the emphasis on helping families to understand and manage information about risks. In 1976, Sahin supported this premise. The role of nurses in case finding and counseling women who might benefit from prenatal diagnosis was described by Davies and Boniface (1979), who saw nurses in pediatric, obstetric, prenatal diagnostic, and community health settings as those most likely to use genetic information in their practice. By the end of the 1970s, medical genetics was firmly established as a subspecialty area. Genetic services were
Ju(v/Augw’t 1994
widely available in university medical centers and in some rural areas where satellite clinics had been established. Nurses were functioning as members of the genetic counseling team in the tertiary sites and as liaisons for case finding and follow-up in the satellite clinics. Postgraduate training programs in genetics for physicians were developed and supported primarily by the federal government. Nurses and other health professionals such as social workers and nutritionists, employed in the clinical service area of these training programs, benefited from the training activities. These disciplines, in turn, provided formal and informal educational programs for students and practitioners in their respective professions. About this time, a new group of professionals joined the genetic counseling teams. Genetic associates or genetic counselors with master’s level education in genetics participate fully in the service, education, and research activities of many, if not most, genetic counseling programs in the United States.
Development of Genetic Services In 1978, funds were appropriated for implementation of a Federal statute mandating access to comprehensive genetic services for all segments of the population. This statute was implemented through the establishment of statewide systems of genetic services. Because sufficient funds were not available to support all of the states at that time, individual states applied for and received funds through a competitive review process. To fulfill the access mandate, satellite genetics clinics, staffed by itinerant teams from the universities, were established in primary and secondary sites, usually local health departments and community hospitals. This shift in services from the medical centers to the community engaged many more health professionals in identifying and referring patients, preparing families for the genetic evaluation process, and in providing follow-up services. To facilitate the identification and referral of patients and families who might be at risk for a genetic disorder, the traveling genetics teams provided on-site continuing education programs for local health providers, many of whom were public health nurses. In 1981, the federal genetics program was incorporated into the Maternal and Child Health Services Block grant. Because the funds available for maternal and child health generally were sharply reduced, the genetics program also was cut back, and a different mechanism to continue to support the genetics service system was identified. Regional genetics networks were developed to support the concept of networking among multidisciplinary providers, to plan and implement continuing education programs, and to provide for quality assurance in laboratory programs and for data collection. The nine regional genetics networks in the United States include all 50 states, Puerto Rico, and the District of Columbia. The networks hold regular meetings during which participants engage in continuing education activities, focus o n spe-
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cific issues in genetic services, such as financing, and
tion for nurses who are able to identify patients and fam-
share past experiences and future plans. Regional clinical genetics groups had developed along with the genetic counseling programs in most areas of the country for the purpose of sharing clinical and laboratory information. The advent of the federally supported networks, which were similarly configured, probably was the first time that multidisciplinary participation in regional meetings was strongly encouraged and funds were made available to support members of the genetic counseling team to attend the regional meetings. It also is likely that these meetings provided the first opportunity for nurses with different roles in the delivery of genetic services to have a regular forum for discussion.
ilies at risk for such common disorders as certain types of heart disease, hypercholesterolemia, and diabetes, which now are recognized as having a significant genetic component. Evaluation of family history, patterns of living, and beliefs are a means of identifying families at risk for developing a disease with a genetic component. In a family identified early, the potential for health and related educational and behavioral intervention is significant. We can anticipate with some certainty that our understanding of the contribution of genetics to health and disease will continue to grow at a fairly rapid rate. Because this applies to the more commonly occurring health problems with the potential for serious consequences, there will be a greater need to identify individuals and families at risk and counsel them appropriately (McCance, 1983).
Current Genetic Nursing Practice Fibison (1983), in a comprehensive discussion of the role of the nurse in genetics, described the role of the Master’s prepared clinical nurse specialist (CNS) in five major areas: direct care, education, consultation, implementation of change, and research. The direct care component of the role expands upon earlier publications and offers some depth, for example with respect to the reasons for, and content of, follow-up visits. The educational role includes providing information formally and informally to other nurses about the principles of genetics, specific genetic disorders, and the genetic counseling process, as well as patient education. Consultation was described as assisting in the planning and implementation of new or improved community programs and consultation to individual nurse providers regarding a specific problem or family. Implementation of systems change is a CNS role. Staff nurses learn to recognize indications for genetic referral and follow through to be certain the family has received counseling in the past or by initiating a referral through the clinical specialist. This would represent a change in practice of the staff nurses and in the system. Several areas of research in clinical genetics were identified that might be investigated by nurses, who are well grounded in the biologic and the behavioral sciences. The effects of genetic counseling on decision making and on family dynamics is just one area that needs additional study (Fibison, 1983). Beginning in the 1980s and continuing into the current decade, nurses have been reporting their experiences with various aspects of genetic services in professional literature. Articles devoted to genetic counseling in pediatrics, obstetrics, occupational health, and neurologic and psychiatric disorders have been published (Fibison & Davies, 1983; La .Rochelle, 1983; Forsman, 1984; Worthington, 1984; Williams, 1986; Steele, 1989; Osband, 1989; Zacharias, 1989; Willis, 1990; Visscher & Clore, 1992; Hulsebus & Williams, 1992; Jones, 1988; Thomson, 1983; Williams, 1987; Doolittle, 1991; Simmons-Alling, 1990). There is general agreement with previous literature about components of the nursing role regardless of the practice setting. McCance (1983) described a major role in preven-
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credentialing of Genetic Seruices Personnel In 1980, The American Board of Medical Genetics was incorporated as the credentialing arm of the American Society of Human Genetics. Examinations were offered in four areas; clinical genetics, medical genetics, laboratory genetics, and genetic counseling. Registered nurses were permitted to sit for the genetic counseling examination. To date, there are about 30 nurses certified by the Board in genetic counseling. Recent discussions about credentials for nurses have focused on the professional nursing orgknizations that offer certification for advanced practice in a specific area of nursing. The International Society of Nurses in Genetics, incorporated in 1987, provides the forum for these discussions. Membership in the organization includes more than 100 nurses engaged in various aspects of genetics service and educational endeavor.
Educational Preparation f o r the Role Federal funds were used to promote the development and implementation of educational programs for health care professionals. These funds have been augmented from time to time by the March of Dimes. A series of meetings was held between January 1980 and December 1989 to engage leaders in service and education in discussions about the need for genetics content in undergraduate and graduate nursing curricula (Forsman & Bishop, 1981;Weiss &Jones, 1984; Felton, 1986). During the same period of time, nursing knowledge in genetics was assessed by a several investigators and found to be inadequate (Cohen, 1979; Williams, 1983; Lessick, 1990). Although it appears that the genetics content of nursing curricula is improving, data are not available to support this premise. The most notable effects of the focus on genetics education in nursing have been the relatively recent development of programs at the graduate level, which permit a specialization in the field, and the increased number of continuing education programs for nurses practicing in a
Volume 23. Number 6
Genetics. Birth D(ficts. and Enciroiztnental Hazurds
variety of settings. The rationale for graduate education was that master’s level nurses were likely to become faculty in basic nursing education programs and would provide increased genetic knowledge and experiences to their students. The knowledge base for practicing nurses also requires up-to-date genetic information so that appropriate care for patients and families can be provided (Forsman, 1988). I t is unfortunate that the survival of many of these programs is dependent o n the availability of financial support from outside sources, rather than from the schools that house them. Miles (1990), George (1992), and Kenner and Berling (1990) described the deliberations during a meeting held in Cincinnati in 1989. These authors clearly articulated the reasons a knowledge of genetics is central to current and future nursing practice. Barriers to increasing the genetics content of nursing curricula, such as overburdened curriculum, lack of faculty expertise, and inadequate fiscal support also were discussed. It was suggested that the science requirements in the nursing curriculum be reviewed and revised. Despite the difficulties, curriculum change must be accomplished if current scientific knowledge is to be the basis for health professional education. An additional effect of the 1989 meeting was increased interest of the American Nurses Association (ANA), as evidenced by a successful grant application entitled “Managing Genetic Information: Policies for U. S. Nurses,” submitted to the Ethical, Legal and Social Implications Program of the National Institute for Human Genome Research. This proposal to examine ways in which nurses manage genetic information in practice is under way. Activities include a telephone survey of 1,000 nurses drawn primarily from the ANA membership. It is anticipated that results will be published and possibly stimulate the development of innovative programs. Results of this project also are a potential support for including genetics in basic nursing education (Scanlon, 1993).
References Andrews, L. B. (Ed.). (1985). Sfate laus aiid regiilutio?~.~ gozleriiiiig iieu,borti screeiziizg. Chicago: American Bar Foundation Brantl, V. M . , h Esslinger, P. N. (1962). Genetics implications for t!ie nursing curriculum. Ni~rsiiigForitm, 14,90-100. Centerwall, W., Chinnock, R . F., h Pusavx, A. (1960). Phenylketonuria: Sreening programs and testing methocls. Americair.lotrriial ofPtthlic Health, 50, 1667. Cohen, F. (1979). Genetic knowledge possessed by American nurses and nursing students. Journal ofAdtiaizces iiz Nirrsiiig, 4,493-501 Cunningham, G . (1993). Personal communication. Davies, B. L., 8 Boniface, W. J. (1979). Prenatal testing for birth defects and nursing practice. Jounial ofAdi~aiicea‘Nursing, 9, 485-491 Doolittle, N . D. (1991). Presidential address: Advances in the neurosciences and implications for nursing care.Jourtral of Neuroscieiice Nirrsiiig, 23, 207-210. Farrell, P. A. (1974). The nurse geneticist: Flight nurse communication. AerospaceMediczrw, 45,1198-1 199.
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Felton, G . ( E d . ) (1986). Proceedings of the National Conference on Nursing Practice in Clinical Genetics: Prospects for the 2 1 s century. Iowa City: IJniversity of Iowa. Fibison, W. J. (1983). The nursing role in the deliveryofgenetic services. Issues iii the Health Care of Wometz, 4, 1-15. Fibison, W. J., 8r Davies, 13. 1.. (1983). Dilemmas in prenatal diagnosis: A case study. Issires iir the Health Care of Womeri, 4, 57-67. Forbes, N. P. (1966).The nurse and genetic couiiseling. Nursitig Cliriics ofNorth America, 1,12-26. Forsman, I. (1984). The nurse’s role. Perspectiices in Getietic Coi~tzseliiig,6, 1-2. Forsman, I . (1988). Education of nurses in genetics. American Jo u ri I al of H i r ma 11 Geii etics, 4.3,5 52 55 8. Forsman, I., 8 Bishop, K. K. (Eds.). (1981). Education in genetics: Nurses and social workers. Proceedings of a workshop, 1981. Department of Health and Human Services publication no. (IISA) 81-5120A. George, J. B. (1992). Genetics: Challenges for nursing education. Jozrrizal of Pediatric Nursing, 7, 5-8. Guthrie, K . (1961 ) . Blood screening for phenlketonuria. Jourical 178, 863. nal of the Americaii h ~ e ~ ~ AssociatiotI, Hillsman, G. M. (1966). Genetics and the nurse. Nzrrsiizg Outlook, 14, 3-1-39. Hulsebus, D. R., CG Williams,J. K. (1992). Cystic fibrosis: A new perspective in genetic counseling. Joitrnal of Pediatric Health Care, 6, 338-342. Jacobsen, C. B., CG Barter, R. 11. (1967). Intrauterine diagnosis and management o f genetic defects. Americaii Joi~rualof Obstetrics aud Gpecolog): 09, 796-807. Jolly, E., Ulum, H., Keyes, G., 8r Smith, G. (1965). Experiences o f public health nurses in obtaining family pedigrees. Public Health Reports, 80, 4 1-46, Jones, S. L. (1988). Decision making in c1inic:il genetics: Ethical implications for pcrinatal nursing prxtice. Joirrizal ofPerinatal aiid Neoriafal Nrtrsiirg, I , 11-23. Juberg R. (1966). Heredity counseling. Nursing Ouf/ook, 14, 28-33. Kenner, K., 81 Bcrling, B. (1990). Nursing in genetics: Current and emerging issues for practice and education. Jouruzal of Pediatric Ntcrsiiig, 5,370-37.t. La Rochelle, D . (1983). Prenatal genetic counseling: Ethical and legal interfaces with the nurse’s role. Issues in the Health Care of Wonieii, 4,77-92. Lejeune, J., Gautier, M., CG Turpiii, R. (1959). Etude des chromosomes somaticlues d e neuf enfants mongoliens. Comptes Keirdzrsde IAcadcrnie desScieiices, 248,1721-1722. Ixssick, M . 1. ( 1990). Personal communicatioti. Lewis, E. P. (ed.). (1970). The clitiical izurse specialist. New York: The American Journal o f Nursing Co. Macready, R. A., h [Iussey, M. G. (1964). Newborn phenylketonuria detection program in Massachusetts. American JourrialofPirblic Health, 54,2075-2081. McCance, K. L. (1983). Genetics: Implications for preventative nursing practice. Joztrrzal of Aduaizced Nursing, 8, 359364. Miles, M . S . (1990). Nurses and genetics: The need for a paradigm shift. 111 Toircb:ANA Cozriicil oii MCHNi4rsi?ig,8, 2. National Clearinghouse f o r Human Genetic Disease. (1980). Clinical service centers: A national listing. Department of Health a n d Human Services publication no. (HSA) 805135. Osband, B. A . (1989). Mulrifactorial inheritance: Implications -
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for perinatal and neonatal nurses.Journal ofperinata! and Neonatal Nursiiig, 2, 43-52. Peppe, K. K. (1993). Personal communication. Reed, S . (1979). A short history of human genetics in the USA. America?i./ourna!ofMedical Genetics, 3,282-295. Scanlon, C. (1993). Genetics grant underway. ANA Center for Ethics a n d Human Rights Communique, 2, 2. Schimpeler, S . , 8r Ebbin, A. J. (1971). Chromosomal disorders: A review. Bulletin of the American College of Nurse-MidUJicJrs, l G , 47-58. Schwab, N., Fibison, W., 8r Wright, L. (1993). Guidelines f o r m a ~ a g e m e nofstudents t withgenetic disorders: A manual for school nurses. Brownfield, Maine: New England Regional Genetics Group. Sehin, S . T. (1976). The multifaceted role of the nurse as genetic counselor. MCN, 2, 211-216. Simmons-Alling, S. (1990). Genetic implications for major affective disorders. Archives of Psychiatric Nursing, 4, 6771. Smith, A. N., 8r Scott, J . A. (1988). Genetic applications for health professionals: An outreach continuing-education model program. American Journal of Human Genetics, 43,559-562. Steele, S. (1989). Phenylketonuria: Counseling and teaching functions of the nurse on an interdisciplinary team. Issues in Comprehensive Pediatric Nursing, 12, 395-409. Thompson, M. W., McInnes, R. R., Willard, H. F. (1992). Thompson and Thompson genetics in medicine. Philadelphia: W. B. Saunders. Thomson, E. J . (1983). The role of the occupational health
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nurse in the prevention of birth defects and genetic disorders. Occupational Health Nursing, 31,28-31. Tijo, J. H., & Levan, A. (1956). The chromosome number of man. Hereditas, 42, 1 . Visscher, E. M., 8r Clore, E. R. (1992). The genogram: A strategy for assessment. Journal of Pediatric Health Care, 6, 361367. Weiss, J. O., 8r Jones, S. L. (eds.). (1984). Education in genetics 11: Nurses and social workers: Proceedings of a workshop. Washington, DC: Georgetown University Medical Center. Williams, J . K. (1983). Pediatric murse practitioner's knowledge of genetic disease. Pediatric Nursing, 9, 119-121. Williams, J . K. (1986). Genetic counseling in pediatric nursing care. Pediatric Nursing, 12, 287-290. Williams, J. K . (1987). Genetic counseling and prenatal diagnosis. Women 3 Health,'3, 67-77. Willis, J. (1990j. The human face of genetics. Nursing Times, 86, 43-45. Worthington, S . (1984). Genetic screening. JOGNN, 13(Suppl), 32-37. Wright, L., Brown, A,, 8r Davidson-Mundt, A. (1992). Newborn screening: The miracle and the challenge. Journal ofPediatric Nursing, 7, 26-42. Zacharias, J. F. (1990). The new genetics.JOGNN, 19, 122-128.
Addressf o r correspondence: Irene Forsman, RN, MS, Bureau of Maternal and Chtld Health, Parklawn Building, Rockvtlle, MD 20857. Irene Forsrnan is a nursing consultant f o r the Bureau ofitraternal and Child Health In Rockvtlle, MD.
Volume 2.3) Number 6
The role of the nurse in the delivery of genetic counseling services initially was developed by nurses working in multidisciplinary teams serving the developmentally disabled and mentally retarded. Both the characteristics of the role and the need for didactic content and clinical experiences were well articulated as early as the early to mid-1960s. Since that time, many nurses have published their interpretations of the role in light of their individual practice and the state of the art. The basic elements of case finding and referral, explaining the process of genetic evaluation and counseling to families, constructing a family pedigree, assisting the family in gathering records and documentation, clarifying genetic inforniation, and providing long-term management assistance remain basically the same. What changes is the information available and the population to which the information may be applied. Prenatal diagnosis and the identification of individuals at risk for common disorders are two good examples of change based on emerging scientific information.
uring the next decade we are likely to see a major expansion of school and adolescent health clinics. School nurses will increase in number, improve their primary care skills and b e in a position to observe and evaluate the school age population for genetic risk. I n addition, those nurses will be involved in the care of more youngsters affected by a genetic disorder because more of these children and adolescents are surviving to adulthood. A recently published manual for school nurses o n the care of children with genetic disorders is devoted to care of the child with sickle cell disease (Schwab, Fibison, &Wright, 1993). An additional chapter on spina bifida is to be prepared this year. Finally, although Hillsman (1966) provided the prototype for the state-level nurse consultant with responsibility for genetic services in Ohio, a number of states have used nurses in similar positions with broad responsibility for patient follow-up, professional consultation, and data collection (Peppe, 1993).
Ju[v/August 1994
Scientific knowledge in human and medical genetics has expanded rapidly during the last half of this century. Recently, advances in the area of molecular genetics and the national and international collaborative efforts to map the human genome lead us to believe that w e will continue to accumulate knowledge about the contribution of genetics in health and disease at an even more rapid rate (Thompson, McInnes, & Willard, 1992). The primary importance of this knowledge is in its clinical application to diagnose conditions and counsel individuals and families known o r suspected to b e at risk for a genetic disorder. This article describes the evolving roles of nurses in the delivery of genetic services. A historical context for development of the nursing role includes not only the advancing science and its applications in clinical situations, but also changes within the nursing profession. The development of the clinical nurse specialist and nurse practitioner roles that occurred during the 1960s and early 1970s enabled nurses to perceive genetic counseling services as an important component of health care and o n e in which they would have a critical role (Lewis, 1970). Legislative changes at the state and the federal level also influenced the development of the nursing role in the delivery of genetic services. These changes provided for many more health professionals to practice in the genetic services delivery system.
Background There have been many important contributions to the understanding of human genetics in the first half of the 20th century. However, it was not until the second half of the century that the significance of genetics to medicine began to be fully appreciated (Reed, 1979). During the 1950s advances in biochemical genetics made possible the early detection of phenylketonuria (PKU), a n autosomal recessive genetic disorder that results in moderate to severe mental retardation if dietary treatment is not initiated during the first few weeks of life. A urine test to screen infants for the condition was performed by providers of well-baby care. In public child
J O G N N 481
CLINICAL I S S U E S
In 1962, Brantl and Esslinger, two nursing educators, recommended that human genetics be included in the
content of basic nursing education. They said that knowledge of genetics was needed by nurses “to enhance and enrich the care of patients and their families” (p. 91). The nurse’s role was defined to be one of “helping families and individuals cope with a given inherited characteristic and providing them with the reliable scientific information they may need to understand the cause of the inherited characteristic” (p. 99). It also was suggested that the nurse might provide information directly, reinforce information given by a physician, and suggest appropriate referrals for additional family support services. These authors said that the well-informed nurse also would recognize that other family members might be at risk and counsel them about the specific condition and the need for medical follow-up (Brantl & Esslinger, 1962). Nursing educators generally did not act on the advice of Brantl and Esslinger at that time. However, nurses working with tertiary-based genetic counseling teams, those providing services to individuals with mental retardation and their families, and those in public health settings began to describe their experiences in the delivery of genetic services by documentation in the nursing literature. Because most nurses were not well educated about basic principles of human genetics or medical genetics, many of the articles included a substantive discussion of current advances in human and medical genetics. In addition to their contributions to the nursing literature, the nurses began to provide didactic content in genetics through continuing and formal educational programs to a wide rahge of students, health professionals, and the public. A discussion of the nursing role was included for nursing audiences. Jolly, Blum, Keyes, and Smith (1965) described a program initiated in 1963 in which public health nurses were taught to construct the family pedigrees in families of children with chronic diseases, after it was recognized that many of those diseases had a hereditary component. In addition to benefiting the families by providing information that was useful, this experience was described as facilitating the education of the nurses about genetic conditions and for strengthening the physician-nurse counseling team. The nurses found they increased their understanding of family relationships, identified areas for health education, improved their interviewing skills, and generally strengthened their rapport with families (Jolly et al., 1965). In 1966, Forbes summarized advances in cytogenetics and additionally described the role of the public health nurse in the delivery of genetic services. This role included case finding, obtaining a family history, talking with the family about the reasons for referral, and explaining what would happen to the family during the process of genetic evaluation. The public health nurse also was responsible for scheduling and coordinating appointments, collecting specimens from the patient and other family members, clarifying genetic information for the family, and acting as liaison between the family and the clinic for long-term follow-up and possible future studies. In addition to the direct service aspect of the
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health clinics, the test was performed by public health nurses. These nurses were concerned primarily with identification of a child at risk for mental retardation and not with the genetics of PKU. The urine test was replaced in 1961 by the Guthrie test, a simple, inexpensive, and more accurate test involving a heel-stick blood sample collected on filter paper before a newborn infant was discharged from this hospital (Centerwall et al., 1960; Guthrie, 1961). In 1962, the state of Massachusetts initiated the first statewide program of newborn screening for PKU (Macready & Hussey, 1964). The role of the public health nurse shifted from merely performing the test, to being responsible for the follow-up of children who required a diagnostic evaluation after an abnormal screening result and assistance to the family in the long-term care of the affected infant and child (Hillsman, 1966). By 1985, 48 states and the District of Columbia had adopted legislation regarding newborn screening for PKU and other metabolic disorders (Andrews, 1985). A detailed discussion of disorders for which newborn screening is performed is found in a recent article bywright, Brown, and Davidson-Mundt (1992). Concurrently with advances in biochemical genetics were discoveries in cytogenetics, the study of chromosomes. In 1956, the correct number of chromosomes in humans was established as 46 (Tijo & Levan, 1956). In 1957, it was noted that the condition which was then called Mongolism, now referred to as Down syndrome, was consistently associated with an extra chromosome 2 1 (Lejeune, Gautier, & Turpin, 1959). During the next several years, most of the gross chromosome abnormalities of clinical significance were identified. Scientific and technologic advances in biochemical genetics and cytogenetics continue to contribute to our knowledge and understanding. The early developments in clinical genetics occurred primarily in pediatric programs serving the mentally retarded. Such programs presaged the development of genetic counseling programs, which were established in virtually every university medical center in the United Sates by 1980 (National Clearinghouse for Human Genetic Disease, 1980). The programs offered diagnosis and counseling to couples. The risks to future offspring and to other family members of recurrence of a specific condition were discussed, and assistance in the care of the affected individual was provided. Although most genetics programs characterized themselves as consultative in nature, many provided long-term follow-up, either directly or in consultation with a primary care provider. Counseling included a discussion of reproductive options. These were limited until the mid-1970s when midtrimester amniocentesis for prenatal diagnosis became widely available. The long-term follow-up proved to be a good mechanism for reaching o u t to couples who might benefit from advancing science and technology.
Emly Development of the Nursing Role
Genetics,Birth Defect$!and Environmental Hazards
nursing role, the continuing education and research activities were briefly discussed (Forbes, 1966). Hillsman, in her capacity as the nursing consultant and coordinator of the PKU program in the Ohio Department of Health, described her experiences with families needing genetic services and with the public health nurses caring for them. Embedded in the discussion are the elements discussed by Forbes, with a major emphasis on the family support role of the nurse in clarifying and reinforcing genetic information and in assisting the family with the care of the child. A companion article provided an in-depth discussion of genetic services and common reasons for referral (Hillsman, 1966). In 1967,Jacobsen and Barter published their experiences with midtrimester amniocentesis disorders. This new tool for genetic diagnosis opened yet another role for nurses focusing on the need for support for couples undergoing prenatal diagnosis. For the first time, it was possible to offer a test that allowed couples to avoid a known risk. Women older than 35 years of age and thus at higher risk of having a child with a chromosomal disorder represented the largest group of individuals for whom prenatal diagnosis was indicated. Couples in which each partner carried a gene for the same autosomal recessive disorder (for example, Tay Sachs disease) are another group for whom prenatal diagnosis became an option. The nurse involved in prenatal diagnosis counseling provides accurate and complete information about the procedure, its risks, benefits, and limitations. The nurse also is pre‘pared to provide support to couples throughout the process. The emotional toll of deciding to establish a pregnancy, waiting until the pregnancy is advanced enough to use prenatal diagnostic procedures, and anticipating results can be overwhelming. “Prenatal Diagnosis in the 1990s” appears elsewhere in this symposium. In 1971, Schimpeler and Ebbin noted that a survey of nursing publications revealed little information about advances in genetics in journals accessible to nurses. They reviewed the state of knowledge relative to the diagnosis of chromosomal disorders and recurrence risks. They approached the discussion of the nursing role from the standpoint of the public health nurse and focused on the support role, including the provision of simply stated, but scientifically accurate, information for families, including extended family members. In the 1970s, the role of the nurse in genetics was additionally defined. Farrell (1974) stated that nurses, provided they are well prepared in the clinical areas and the basic sciences, are well suited to provide genetic counseling, with the emphasis on helping families to understand and manage information about risks. In 1976, Sahin supported this premise. The role of nurses in case finding and counseling women who might benefit from prenatal diagnosis was described by Davies and Boniface (1979), who saw nurses in pediatric, obstetric, prenatal diagnostic, and community health settings as those most likely to use genetic information in their practice. By the end of the 1970s, medical genetics was firmly established as a subspecialty area. Genetic services were
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widely available in university medical centers and in some rural areas where satellite clinics had been established. Nurses were functioning as members of the genetic counseling team in the tertiary sites and as liaisons for case finding and follow-up in the satellite clinics. Postgraduate training programs in genetics for physicians were developed and supported primarily by the federal government. Nurses and other health professionals such as social workers and nutritionists, employed in the clinical service area of these training programs, benefited from the training activities. These disciplines, in turn, provided formal and informal educational programs for students and practitioners in their respective professions. About this time, a new group of professionals joined the genetic counseling teams. Genetic associates or genetic counselors with master’s level education in genetics participate fully in the service, education, and research activities of many, if not most, genetic counseling programs in the United States.
Development of Genetic Services In 1978, funds were appropriated for implementation of a Federal statute mandating access to comprehensive genetic services for all segments of the population. This statute was implemented through the establishment of statewide systems of genetic services. Because sufficient funds were not available to support all of the states at that time, individual states applied for and received funds through a competitive review process. To fulfill the access mandate, satellite genetics clinics, staffed by itinerant teams from the universities, were established in primary and secondary sites, usually local health departments and community hospitals. This shift in services from the medical centers to the community engaged many more health professionals in identifying and referring patients, preparing families for the genetic evaluation process, and in providing follow-up services. To facilitate the identification and referral of patients and families who might be at risk for a genetic disorder, the traveling genetics teams provided on-site continuing education programs for local health providers, many of whom were public health nurses. In 1981, the federal genetics program was incorporated into the Maternal and Child Health Services Block grant. Because the funds available for maternal and child health generally were sharply reduced, the genetics program also was cut back, and a different mechanism to continue to support the genetics service system was identified. Regional genetics networks were developed to support the concept of networking among multidisciplinary providers, to plan and implement continuing education programs, and to provide for quality assurance in laboratory programs and for data collection. The nine regional genetics networks in the United States include all 50 states, Puerto Rico, and the District of Columbia. The networks hold regular meetings during which participants engage in continuing education activities, focus o n spe-
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cific issues in genetic services, such as financing, and
tion for nurses who are able to identify patients and fam-
share past experiences and future plans. Regional clinical genetics groups had developed along with the genetic counseling programs in most areas of the country for the purpose of sharing clinical and laboratory information. The advent of the federally supported networks, which were similarly configured, probably was the first time that multidisciplinary participation in regional meetings was strongly encouraged and funds were made available to support members of the genetic counseling team to attend the regional meetings. It also is likely that these meetings provided the first opportunity for nurses with different roles in the delivery of genetic services to have a regular forum for discussion.
ilies at risk for such common disorders as certain types of heart disease, hypercholesterolemia, and diabetes, which now are recognized as having a significant genetic component. Evaluation of family history, patterns of living, and beliefs are a means of identifying families at risk for developing a disease with a genetic component. In a family identified early, the potential for health and related educational and behavioral intervention is significant. We can anticipate with some certainty that our understanding of the contribution of genetics to health and disease will continue to grow at a fairly rapid rate. Because this applies to the more commonly occurring health problems with the potential for serious consequences, there will be a greater need to identify individuals and families at risk and counsel them appropriately (McCance, 1983).
Current Genetic Nursing Practice Fibison (1983), in a comprehensive discussion of the role of the nurse in genetics, described the role of the Master’s prepared clinical nurse specialist (CNS) in five major areas: direct care, education, consultation, implementation of change, and research. The direct care component of the role expands upon earlier publications and offers some depth, for example with respect to the reasons for, and content of, follow-up visits. The educational role includes providing information formally and informally to other nurses about the principles of genetics, specific genetic disorders, and the genetic counseling process, as well as patient education. Consultation was described as assisting in the planning and implementation of new or improved community programs and consultation to individual nurse providers regarding a specific problem or family. Implementation of systems change is a CNS role. Staff nurses learn to recognize indications for genetic referral and follow through to be certain the family has received counseling in the past or by initiating a referral through the clinical specialist. This would represent a change in practice of the staff nurses and in the system. Several areas of research in clinical genetics were identified that might be investigated by nurses, who are well grounded in the biologic and the behavioral sciences. The effects of genetic counseling on decision making and on family dynamics is just one area that needs additional study (Fibison, 1983). Beginning in the 1980s and continuing into the current decade, nurses have been reporting their experiences with various aspects of genetic services in professional literature. Articles devoted to genetic counseling in pediatrics, obstetrics, occupational health, and neurologic and psychiatric disorders have been published (Fibison & Davies, 1983; La .Rochelle, 1983; Forsman, 1984; Worthington, 1984; Williams, 1986; Steele, 1989; Osband, 1989; Zacharias, 1989; Willis, 1990; Visscher & Clore, 1992; Hulsebus & Williams, 1992; Jones, 1988; Thomson, 1983; Williams, 1987; Doolittle, 1991; Simmons-Alling, 1990). There is general agreement with previous literature about components of the nursing role regardless of the practice setting. McCance (1983) described a major role in preven-
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credentialing of Genetic Seruices Personnel In 1980, The American Board of Medical Genetics was incorporated as the credentialing arm of the American Society of Human Genetics. Examinations were offered in four areas; clinical genetics, medical genetics, laboratory genetics, and genetic counseling. Registered nurses were permitted to sit for the genetic counseling examination. To date, there are about 30 nurses certified by the Board in genetic counseling. Recent discussions about credentials for nurses have focused on the professional nursing orgknizations that offer certification for advanced practice in a specific area of nursing. The International Society of Nurses in Genetics, incorporated in 1987, provides the forum for these discussions. Membership in the organization includes more than 100 nurses engaged in various aspects of genetics service and educational endeavor.
Educational Preparation f o r the Role Federal funds were used to promote the development and implementation of educational programs for health care professionals. These funds have been augmented from time to time by the March of Dimes. A series of meetings was held between January 1980 and December 1989 to engage leaders in service and education in discussions about the need for genetics content in undergraduate and graduate nursing curricula (Forsman & Bishop, 1981;Weiss &Jones, 1984; Felton, 1986). During the same period of time, nursing knowledge in genetics was assessed by a several investigators and found to be inadequate (Cohen, 1979; Williams, 1983; Lessick, 1990). Although it appears that the genetics content of nursing curricula is improving, data are not available to support this premise. The most notable effects of the focus on genetics education in nursing have been the relatively recent development of programs at the graduate level, which permit a specialization in the field, and the increased number of continuing education programs for nurses practicing in a
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Genetics. Birth D(ficts. and Enciroiztnental Hazurds
variety of settings. The rationale for graduate education was that master’s level nurses were likely to become faculty in basic nursing education programs and would provide increased genetic knowledge and experiences to their students. The knowledge base for practicing nurses also requires up-to-date genetic information so that appropriate care for patients and families can be provided (Forsman, 1988). I t is unfortunate that the survival of many of these programs is dependent o n the availability of financial support from outside sources, rather than from the schools that house them. Miles (1990), George (1992), and Kenner and Berling (1990) described the deliberations during a meeting held in Cincinnati in 1989. These authors clearly articulated the reasons a knowledge of genetics is central to current and future nursing practice. Barriers to increasing the genetics content of nursing curricula, such as overburdened curriculum, lack of faculty expertise, and inadequate fiscal support also were discussed. It was suggested that the science requirements in the nursing curriculum be reviewed and revised. Despite the difficulties, curriculum change must be accomplished if current scientific knowledge is to be the basis for health professional education. An additional effect of the 1989 meeting was increased interest of the American Nurses Association (ANA), as evidenced by a successful grant application entitled “Managing Genetic Information: Policies for U. S. Nurses,” submitted to the Ethical, Legal and Social Implications Program of the National Institute for Human Genome Research. This proposal to examine ways in which nurses manage genetic information in practice is under way. Activities include a telephone survey of 1,000 nurses drawn primarily from the ANA membership. It is anticipated that results will be published and possibly stimulate the development of innovative programs. Results of this project also are a potential support for including genetics in basic nursing education (Scanlon, 1993).
References Andrews, L. B. (Ed.). (1985). Sfate laus aiid regiilutio?~.~ gozleriiiiig iieu,borti screeiziizg. Chicago: American Bar Foundation Brantl, V. M . , h Esslinger, P. N. (1962). Genetics implications for t!ie nursing curriculum. Ni~rsiiigForitm, 14,90-100. Centerwall, W., Chinnock, R . F., h Pusavx, A. (1960). Phenylketonuria: Sreening programs and testing methocls. Americair.lotrriial ofPtthlic Health, 50, 1667. Cohen, F. (1979). Genetic knowledge possessed by American nurses and nursing students. Journal ofAdtiaizces iiz Nirrsiiig, 4,493-501 Cunningham, G . (1993). Personal communication. Davies, B. L., 8 Boniface, W. J. (1979). Prenatal testing for birth defects and nursing practice. Jounial ofAdi~aiicea‘Nursing, 9, 485-491 Doolittle, N . D. (1991). Presidential address: Advances in the neurosciences and implications for nursing care.Jourtral of Neuroscieiice Nirrsiiig, 23, 207-210. Farrell, P. A. (1974). The nurse geneticist: Flight nurse communication. AerospaceMediczrw, 45,1198-1 199.
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Felton, G . ( E d . ) (1986). Proceedings of the National Conference on Nursing Practice in Clinical Genetics: Prospects for the 2 1 s century. Iowa City: IJniversity of Iowa. Fibison, W. J. (1983). The nursing role in the deliveryofgenetic services. Issues iii the Health Care of Wometz, 4, 1-15. Fibison, W. J., 8r Davies, 13. 1.. (1983). Dilemmas in prenatal diagnosis: A case study. Issires iir the Health Care of Womeri, 4, 57-67. Forbes, N. P. (1966).The nurse and genetic couiiseling. Nursitig Cliriics ofNorth America, 1,12-26. Forsman, I. (1984). The nurse’s role. Perspectiices in Getietic Coi~tzseliiig,6, 1-2. Forsman, I . (1988). Education of nurses in genetics. American Jo u ri I al of H i r ma 11 Geii etics, 4.3,5 52 55 8. Forsman, I., 8 Bishop, K. K. (Eds.). (1981). Education in genetics: Nurses and social workers. Proceedings of a workshop, 1981. Department of Health and Human Services publication no. (IISA) 81-5120A. George, J. B. (1992). Genetics: Challenges for nursing education. Jozrrizal of Pediatric Nursing, 7, 5-8. Guthrie, K . (1961 ) . Blood screening for phenlketonuria. Jourical 178, 863. nal of the Americaii h ~ e ~ ~ AssociatiotI, Hillsman, G. M. (1966). Genetics and the nurse. Nzrrsiizg Outlook, 14, 3-1-39. Hulsebus, D. R., CG Williams,J. K. (1992). Cystic fibrosis: A new perspective in genetic counseling. Joitrnal of Pediatric Health Care, 6, 338-342. Jacobsen, C. B., CG Barter, R. 11. (1967). Intrauterine diagnosis and management o f genetic defects. Americaii Joi~rualof Obstetrics aud Gpecolog): 09, 796-807. Jolly, E., Ulum, H., Keyes, G., 8r Smith, G. (1965). Experiences o f public health nurses in obtaining family pedigrees. Public Health Reports, 80, 4 1-46, Jones, S. L. (1988). Decision making in c1inic:il genetics: Ethical implications for pcrinatal nursing prxtice. Joirrizal ofPerinatal aiid Neoriafal Nrtrsiirg, I , 11-23. Juberg R. (1966). Heredity counseling. Nursing Ouf/ook, 14, 28-33. Kenner, K., 81 Bcrling, B. (1990). Nursing in genetics: Current and emerging issues for practice and education. Jouruzal of Pediatric Ntcrsiiig, 5,370-37.t. La Rochelle, D . (1983). Prenatal genetic counseling: Ethical and legal interfaces with the nurse’s role. Issues in the Health Care of Wonieii, 4,77-92. Lejeune, J., Gautier, M., CG Turpiii, R. (1959). Etude des chromosomes somaticlues d e neuf enfants mongoliens. Comptes Keirdzrsde IAcadcrnie desScieiices, 248,1721-1722. Ixssick, M . 1. ( 1990). Personal communicatioti. Lewis, E. P. (ed.). (1970). The clitiical izurse specialist. New York: The American Journal o f Nursing Co. Macready, R. A., h [Iussey, M. G. (1964). Newborn phenylketonuria detection program in Massachusetts. American JourrialofPirblic Health, 54,2075-2081. McCance, K. L. (1983). Genetics: Implications for preventative nursing practice. Joztrrzal of Aduaizced Nursing, 8, 359364. Miles, M . S . (1990). Nurses and genetics: The need for a paradigm shift. 111 Toircb:ANA Cozriicil oii MCHNi4rsi?ig,8, 2. National Clearinghouse f o r Human Genetic Disease. (1980). Clinical service centers: A national listing. Department of Health a n d Human Services publication no. (HSA) 805135. Osband, B. A . (1989). Mulrifactorial inheritance: Implications -
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for perinatal and neonatal nurses.Journal ofperinata! and Neonatal Nursiiig, 2, 43-52. Peppe, K. K. (1993). Personal communication. Reed, S . (1979). A short history of human genetics in the USA. America?i./ourna!ofMedical Genetics, 3,282-295. Scanlon, C. (1993). Genetics grant underway. ANA Center for Ethics a n d Human Rights Communique, 2, 2. Schimpeler, S . , 8r Ebbin, A. J. (1971). Chromosomal disorders: A review. Bulletin of the American College of Nurse-MidUJicJrs, l G , 47-58. Schwab, N., Fibison, W., 8r Wright, L. (1993). Guidelines f o r m a ~ a g e m e nofstudents t withgenetic disorders: A manual for school nurses. Brownfield, Maine: New England Regional Genetics Group. Sehin, S . T. (1976). The multifaceted role of the nurse as genetic counselor. MCN, 2, 211-216. Simmons-Alling, S. (1990). Genetic implications for major affective disorders. Archives of Psychiatric Nursing, 4, 6771. Smith, A. N., 8r Scott, J . A. (1988). Genetic applications for health professionals: An outreach continuing-education model program. American Journal of Human Genetics, 43,559-562. Steele, S. (1989). Phenylketonuria: Counseling and teaching functions of the nurse on an interdisciplinary team. Issues in Comprehensive Pediatric Nursing, 12, 395-409. Thompson, M. W., McInnes, R. R., Willard, H. F. (1992). Thompson and Thompson genetics in medicine. Philadelphia: W. B. Saunders. Thomson, E. J . (1983). The role of the occupational health
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nurse in the prevention of birth defects and genetic disorders. Occupational Health Nursing, 31,28-31. Tijo, J. H., & Levan, A. (1956). The chromosome number of man. Hereditas, 42, 1 . Visscher, E. M., 8r Clore, E. R. (1992). The genogram: A strategy for assessment. Journal of Pediatric Health Care, 6, 361367. Weiss, J. O., 8r Jones, S. L. (eds.). (1984). Education in genetics 11: Nurses and social workers: Proceedings of a workshop. Washington, DC: Georgetown University Medical Center. Williams, J . K. (1983). Pediatric murse practitioner's knowledge of genetic disease. Pediatric Nursing, 9, 119-121. Williams, J . K. (1986). Genetic counseling in pediatric nursing care. Pediatric Nursing, 12, 287-290. Williams, J. K . (1987). Genetic counseling and prenatal diagnosis. Women 3 Health,'3, 67-77. Willis, J. (1990j. The human face of genetics. Nursing Times, 86, 43-45. Worthington, S . (1984). Genetic screening. JOGNN, 13(Suppl), 32-37. Wright, L., Brown, A,, 8r Davidson-Mundt, A. (1992). Newborn screening: The miracle and the challenge. Journal ofPediatric Nursing, 7, 26-42. Zacharias, J. F. (1990). The new genetics.JOGNN, 19, 122-128.
Addressf o r correspondence: Irene Forsman, RN, MS, Bureau of Maternal and Chtld Health, Parklawn Building, Rockvtlle, MD 20857. Irene Forsrnan is a nursing consultant f o r the Bureau ofitraternal and Child Health In Rockvtlle, MD.
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