Journal of Genetic Counseling, VoL 3, No. 2, 1994

Nursing and Genetic Health Care Dale Halsey Lea, 1,4 Janet K. Williams, 2 and Susan T. Tinley 3

Advances in DNA technology are leading to major developments in nursing practice in clinical genetics, including the creation of new roles for nurses who care for people with genetic conditions. Application of genetic information and testing is moving genetics into the mainstream of health care. Therefore, it is anticipated that nurses in all areas of practice will become involved in the provision of information about genetic testing and assisting individuals and families in decision making and adjustment to new genetic information. This article provides an overview of the profession of nursing which may be useful to genetic counselors in the development of collaborative relationships between the two professions. KEY WORDS: nursing roles; clinical nurse specialist; genetic counseling; genetic health care.

INTRODUCTION Nurses have a rich tradition in providing care to individuals and families who have or who are at risk for genetic conditions. Traditional roles for nurses in genetic health care include case-finding, being advocates for individuals who have specific genetic conditions, and providing supportive care and follow-up for families who have genetic conditions. Nurses also function as genetic nurse specialists on genetic counseling and disease management teams. As the field of genetics grows, more nurses are likely to pursue careers in genetic service delivery, education, and research (Thorn1Genetics & Reproductive Immunology Programs, Foundation for Blood Research, Scarborough, Maine. 2College of Nursing, The University of Iowa, Iowa City, Iowa. 3Genetics Department, Boys Town National Research Hospital, Omaha, Nebraska. 4Correspondence should be directed to Dale Halsey Lea, Foundation for Blood Research, P.O. Box 190, Scarborough, Maine, 04070-0190. 113 1059-7700/94/0600-011350%00/1 © 1994NationalSocietyof GeneticCounselors,Inc.

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son, 1993). It is expected that nurses in all areas of practice wilt become involved in providing information about genetic testing and helping people incorporate new genetic information into their lives. Understanding the essential elements of nursing theory and process can help facilitate communication between the professions of genetic counseling and nursing, and enhance collaborative efforts in the provision of genetic counseling services to individuals and families.

PROFESSION OF NURSING

Professional nursing is usually said to date from the Florence Nightingale era. In 1860, Nightingale described the primary function of nursing "to put the patient in the best possible condition for nature to act upon him" (Nightingale, 1969, p. 133). At this time, she also established formal educational preparation for the practice of nursing. Since that time, nursing has come to be defined as a process through which care is provided to individuals, families, or community groups primarily around circumstances and situations that arise from health-related problems. This is in contrast to medical care of individuals which is cause and cure oriented (Chater, 1976). The core or essence of clinical nursing practice is the nursing diagnosis and treatment of human responses to health and illness (The Scope of Nursing Practice, 1987). The primary goal of nursing is to help people to attain, retain, and regain health (Schlotfeldt, 1972). Nurses are therefore concerned with health-seeking and coping behaviors of individuals as they strive to attain health. Nurses are responsible for planning, providing, and evaluating nursing care in all settings for the promotion of health, prevention of illness, care of the acutely ill, and rehabilitation. Nurses help individuals with necessary daily activities when they are unable to carry them out unaided, and work toward the development of a healthy independence. This essential service is the universal element in the concept of nursing (Henderson, 1978). Nurses must complete an educational program that is accredited by the National League for Nursing (NLN) (Carter, 1986) and then pass a licensing examination prior to practicing as a registered nurse. Education programs leading to an associate degree (community college), a diploma (hospital program), or bachelor's degree all prepare nurses to practice the profession of nursing. Course work for undergraduate nurses includes liberal arts and physical science courses such as chemistry, anatomy, physiology, and biology. A series of social science courses such as psychology and human growth and development are also required prior to taking a series

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of required nursing courses. At the bachelor's level, required nursing courses include experiences in hospital based nursing as well as additional content in public health nursing. Graduate education is offered at the master's and doctoral level in nursing as well as in related fields. In nursing, graduate education includes study of research, nursing theories, and further specialization in education, administration, or clinical practice. Some nurses complete graduate education in genetic counseling. An examination to license a graduate nurse to practice nursing is administered by each state and a nurse must be licensed by the state in which he/she wishes to practice. The licensing criteria and process are specified by the state's Nurse Practice Act. Renewal of licenses is required according to state regulations and many states include mandatory continuing education as one of the criteria for maintenance of licensure. In addition to licensure, nurses may choose to meet qualifications in order to apply for a certification examination in a particular specialty area. Nurses who are educated at the masters level and practice in an advanced nursing role may complete requirements to be a clinical nurse specialist or nurse practitioner. Over 25 organizations certify nurses in specialty areas (Hawkins & Thibodeau, 1993). Although the criteria for application can vary according to the examination provider, these generally include advanced education and/or extensive clinical experience.

NURSING THEORY AND PROCESS

The nature of nursing is generally described as a helping discipline which may involve cognitive acts, behavioral tasks, or interpersonal relationships between the client and the nurse. For this reason, nursing is often referred to as both an art and a science. Nursing practice is based on the synthesis and application of knowledge from the physical, behavioral, and humanistic sciences to assist clients to achieve maximum health potential (Griffeth-Kenny and Christensen, 1986). Nurses use rational, systematic, theoretical approaches along with a broad knowledge base, to guide all aspects of the nursing process. Nursing theories provide a framework to guide nursing practice. They are based on the philosophical concepts of the individual, the nurse, health, and society (Griffeth-Kenney and Christensen, 1986). These theoretical approaches to nursing provide a broad framework that allows for integration of all aspects of a client's complex health situation. An example is Dorthea Orem's SelfCare Model (Orem, 1985). It is based upon three theoretical constructs: self-care deficits, self care, and nursing systems. Nurses assist individuals

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with self-care activities when they are unable to perform them for themselves. The goal is to guide the patient to eventually become independent in self care. The nurse calculates the self care demands of the patient and from this assessment he/she develops a specific course of action. Orem's model was developed for application to individuals or families and serves as a guide for nurses in planning and implementing specific nursing care as well as a foundation for nursing research.

NURSING PROCESS APPLIED TO GENETICS

The nursing process, as the core of nursing practice, provides structure for nursing care. It is made up of five interacting components: assessment, diagnosis, planning, implementation, and evaluation (Griffeth-Kenney & Christiansen, 1986). The first component, nursing assessment, is a continuous process of collecting both subjective and objective data about the client's health status, strengths, and concerns. It is comprehensive and multifocaI representing a variety of sources such as the individual, family, community, physical assessment, and laboratory testing. Nursing assessment behaviors include taking a family history, as well as developmental, health, and pregnancy histories. The family history is used in this aspect of the nursing process to allow the nurse to identify individuals who are at risk for development of an inherited disorder or birth defect. It is also useful in assessing an individual's understanding of this risk and identifying the nature of communication regarding genetic topics within the family. The second component, nursing diagnosis, involves analysis of data and categorizing patient behavior patterns including signs and symptoms. Underlying associations between the behaviors and health concerns are determined and form the basis of the nursing diagnosis. Each diagnosis is client centered and reflects only those health concerns that can be treated by nurses. For example, in a child with spina bifida who has bowel and bladder involvement, the diagnosis would be alteration in bowel and bladder function. Many times, the nursing diagnosis will reflect the client's need for further information. Based upon assessment from family history, the diagnosis may be knowledge deficit regarding recurrence risk. Nurses plan and implement interventions based upon the nursing diagnoses and the activities or goals mutually identified by the nurse and the client. These include activities that will be performed by the nurse, the client, or others. An intervention for a child with bowel and bladder dysfunction may be scheduled catheterizations with the goal of the child becoming independent in this activity. An intervention for a client with

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knowledge deficit could include discussing risk factors, describing genetic counseling services, and making a referral for genetic counseling. Evaluation is a critical and ongoing component of the nursing process. The client's progress toward goal achievement is measured by comparing the client's status with the objectives and goals. Evaluation of the nurse's discussion of prenatal screening tests would include assessment of the client's knowledge and satisfaction with the amount and nature of the information provided. If the nurse determines a knowledge deficit, he/she might refer the client to the genetic counseling team for further counseling.

HISTORY OF NURSES IN GENETIC HEALTH CARE Information regarding genetic counseling began appearing in the nursing literature in the 1960s. These articles were didactic in nature and described Mendelian inheritance, chromosomal problems, and psychosocial aspects of adjustment to the presence of an inherited disorder. The responsibilities of the nurse in providing psychosocial support as well as case finding as a part of community nursing were emphasized (Forbes, 1966; Hillsman, 1966). In the next decade, literature regarding nurses in genetics shifted to application of nursing skills as members of genetic counseling teams. For example, Ferrer (1975) discussed assessment of education needs and information required by clients with hemoglobinopathies. The use of a family history and the nonjudgmental discussion of genetic information were emphasized as a part of maternal-child health care (Sahin, 1976). However, throughout these papers, recognition of the importance of psychosocial support continued to be a consistent theme. Later discussions reflected development of the roles of nurses who were part of genetic counseling teams, as well as continuing to describe roles of nurses who applied genetic principles in general nursing practice. In Fibison's (1983) review of the nursing role in genetic services, the activities of the clinical nurse specialist in genetics were outlined. These included direct patient care, education of health professionals, consultation, implementation of change, and research. These activities were consistent with the descriptions of the developing roles of clinical nurse specialists in other specialty areas. In an effort to describe an expanded nursing role in genetics, Tinley (1987) surveyed nurses and the geneticists with whom they worked, with regard to the expectations for the role of the genetics nurse clinician. Although the nurses expressed stronger opinions, both groups identified rote components that were consistent with the clinical nurse specialist model.

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The case-finding responsibilities of nurses, especially those in community and maternity settings were also discussed. This was illustrated in discussions of nursing application of genetic knowledge when identifying people at risk for specific problems such as heart disease (McCance, 1983) and birth defects in children (Williams, 1983). In spite of the recognition of the importance of using genetic principles in nursing practice, authors consistently reported that nurses' abilities to participate in case-finding and education regarding genetic disorders was limited by gaps in education on genetic topics (Cohen, 1979; Monsen, 1984; Williams, 1983). In the past 10 years, efforts to address this gap are reflected by the inclusion of topics on family history and pedigree, congenital anomalies, neonatal screening, and prenatal risk factors in many pediatric and maternity textbooks for nurses. Continuing education activities, such as those in the University of Colorado program (Genetic Applications, 1988) have also been developed to bring current genetics information to nurses in clinical practice. The late 1980s and 1990s have seen an explosion of knowledge development in nursing regarding genetic topics. The nursing literature reflects development of knowledge of problem management, research regarding problems encountered by people with genetic concerns as well as current use of genetic information by nurses. Recognition and management of ethical concerns in maternal health and prenatal diagnosis, implementation of newborn screening for metabolic disorders, and implications of screening for cystic fibrosis are presented in the context of nursing practice (Fernbach and Thomson, 1992; Jones, 1988; Wright et aL, 1992). Integration of genetic topics in general pediatric care (Prows, 1992) and maternal health (Thomson, 1993) reflects trends in application of genetic technologies to primary health care and renewed efforts to incorporate genetic principles into nursing education and practice. The National Institutes of Health Center for Human Genome Research has provided funding for the American Nurses Association to conduct a research project entitled "Managing Genetic Information: Policies of U.S. Nurses." Purposes of this project include identification of ways nurses elicit, transfer, and use genetic information in their nursing practice (Scanlon, 1993). Knowledge also increased in specific patient care areas. Nursing strategies are identified for health problems associated with specific genetic conditions such as adrenoleukodystrophy (O'Donnell-O'Toole, 1985), sickle cell anemia (Day et al., 1992), and Turner syndrome (Williams, 1992). Increased understanding of components of the coping process in clients with genetic disorders is reported in studies on chronic sorrow in parents of children with Down syndrome (Damrosch and Perry, 1989), adjustment of adolescents with spina bifida (Monsen, 1992), and coping by school aged males with hemophilia (Spitzer, 1992).

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This growth of knowledge in nursing and genetics is paralleled by a major effort by nurse theorists to develop a taxonomy, or categorization of nursing activities. This taxonomy encompasses the broad range of activities performed by nurses. It includes a description of interventions used by nurses who participate in the genetic counseling process (McCloskey and Bulechek, 1992). It describes the role of nursing as practiced in a variety of settings to provide care to people at all levels of wellness. Examples of nursing activities to carry out this intervention include discussing advantages, costs, and risks of diagnostic tests, assisting patients to prioritize all possible alternatives to a problem, and instituting crisis support skills (McCloskey & Bulechek, 1992). This intervention's use of the term "genetic counseling" within that description does not imply that nurses who do not have advanced education or training independently carry out those responsibilities that are described in the definition of Genetic Counseling by the American Society of Human Genetics (Ad Hoc Committee, 1975). Rather, it reflects those aspects of genetic counseling that professional nurses provide to people at risk for or who manifest genetic conditions.

PRESENT ROLES OF NURSES Nurses function as members of genetic counseling teams, coordinate disease specific clinics, and incorporate genetic principles into areas of nursing care. Incorporation of Genetics in Nursing Practice Nurses in all areas of specialization share three major functions with regard to genetics: (I) identification of people who are at risk for inherited disorders and facilitating referrals to a genetic counseling clinic, (2) client advocacy which includes client education, and (3) supportive follow-up after genetic counseling or evaluation. Nurses are likely to encounter individuals or families who would benefit from referral for genetic services (Fibison, 1983). For example, a school nurse's observations during routine health screening of short stature and delayed puberty in a school aged girl alerts the nurse to the possibility of Turner syndrome. The school nurse discusses these findings with the family and not only makes the genetic referral but also prepares them for the genetic counseling process. Client advocacy is a critical role all nurses assume in their practices. This includes protection of the individual's right to know or not to know

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genetic information. Nurses who work in long-term care facilities, such as nursing homes, may be involved with clients who have Huntington disease. These nurses need to be aware of the implications of this disorder and of presymptomatic testing that is available to the family. If, after discussing the benefits and limitations of available testing a family chooses not to have genetic testing or evaluation, the nurse protects that family's right not to know. Client education is an integral part of nursing advocacy. Again, the nurse caring for a client who is newly diagnosed with Huntington disease will help the client and family translate and understand medical information about Huntington disease. In this process, the nurse moves the focus from the knowledge base of the experts to that of the client and family (Doolittte, 1991). In addition to helping families integrate medical genetics information in acute situations, such as the diagnostic process, the nurse can also assist people with management of long-term concerns. Children with degenerative and neurologic conditions such as Duchenne Muscular Dystrophy have many health problems that require long-term planning with specific adjustments in physical care. By knowing the sources of health care in the community, pediatric nurses can help families locate and obtain access to needed services such as home health nursing and respite care. Supportive care and follow-up with families is a continuous nursing activity. For example, following the death of a baby with a genetic condition such as spina bifida, parents and families may experience feelings of social isolation. The community nurse who has a long-term relationship with the family can provide the necessary emotional support as the parents and family grieve. As a member of the overall health team, the community nurse may be able to assist other team members in understanding the family's reaction to the loss, their usual coping strategies, the family structure, and availability of extended family and community support which may influence their adjustment to the loss.

Specialty Clinics and Programs In some areas of the United States, nurses have traditionally been coordinators of Metabolic and Sickle Cell Disease Management Clinics. In these clinics, the nurses provide direct patient care. This includes performing physical examinations, assessing developmental milestones, and patient teaching. In addition, the nurse coordinator fulfills several other functions. One of these is assuring that communication is clear among team members, as

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well as between the team and the family. The nurse coordinator may conduct regularly scheduled meetings with the entire clinic staff, in order to clarify current patient actMties and discuss concerns of clinic staff (Phoenix, 1986). The coordinator monitors laboratory results and communicates the child's treatment protocol with the child's primary health care provider, management team, and the family. Communication with the family is important during all aspects of the treatment process, but no time is more critical than the time of diagnosis. As clinic coordinator, the nurse coordinator may be the first person the family will encounter. This contact is an excellent opportunity to assess family understanding of the disorder, discuss the inheritance pattern of the condition, and to begin to orient the family to the expected plan of treatment. This communication continues as the nurse coordinator assesses the family's abilities to care for their child. In the case of a Sickle Cell Disease Clinic, this nursing assessment includes assessment of ability of family members to monitor fever, identify changes in their child's health status, administer medications, and provide transportation to a hospital or the sickle cell clinic (Earles, 1986). The contacts that the nurse coordinator has with the family may also occur when the child is hospitalized or at home. A Sickle Cell Clinic nurse coordinator will participate in monitoring the child's status during a hospital admission for management of an acute pain crisis. For example, he/she may help the patient explore various methods of pain management in addition to medications (Earles, 1986). A home visit by a Metabolic Clinic nurse coordinator is useful in assessing a family's resources and abilities to carry out the treatment protocol. It also provides an excellent opportunity for developmental assessments, family teaching, and psychosocial support (Phoenix, 1986). Genetics nurse specialists also participate as team members or act as coordinators of genetic counseling clinics. These nurses participate in the genetic counseling process itself. In addition to client-centered activities, genetic nurse specialists are responsible for overall clinic management as well as contributing to the continuing and basic education for nurses and other health professionals. In these capacities, the role of the genetic nurse specialist overlaps with those of the genetic counselor. When both are part of a genetic counseling team, the roles of the genetic nurse specialist and the genetic counselor are complementary. Some genetic nurse specialists have completed American Board of Medical Genetics (ABMG) certification in genetic counseling. In 1991, 16:63 (25%) members of the International Society of Nurses in Genetics responding to a membership survey, reported completion of A B M G certification and 11 others were certified in various areas of advanced nursing practice (Williams, 1991).

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FUTURE NURSING ROLES Because of increasing knowledge in the field of genetics and implications for general health care, nurses practicing in all areas of health care will need to incorporate this new genetic knowledge into their practice. It is anticipated that nurses will assume expanded roles and undertake new responsibilities to meet this need (Thomson, 1993). One area in which expansion of nursing roles is likely to occur is in the area of prenatal screening. At the present time, in the California Maternal Serum Alpha-fetoprotein (MSAFP) screening program, nurses are major providers of information about the AFP test (Press and Browner, 1993). A study of acceptance of AFP screening by ethnically diverse populations revealed that the information given about the screening test was the single most important factor in determining acceptance of testing by all women in the study. This factor was found to be more important than the women's ethnic or social class background (Press and Browner, 1993). Nurses, nurse-midwives, and nurse practitioners who practice in prenatal settings will have increasing responsibilities to present information about genetic screening tests and to ensure that women can give informed consent. This nursing function is an example of the application of minimizing any coercive actions as described in the genetic counseling nursing intervention (McCloskey and Bulechek, 1992). This intervention also includes helping pregnant women and couples understand the decision-making process that follows from choosing to have, or not to have, prenatal testing. Health education, which has been a major role for nurses is assuming even greater prominence as genetic susceptibilities are being identified and clients want to learn about those factors that can contribute to their own risks. Nurses working with adult clients are expected to provide information about primary prevention of such common adult disorders as breast cancer, colon cancer, and coronary disease. As a part of primary health care, nurses teach women about breast self-examination. As new information regarding genetic aspects of breast cancer becomes available, nurses can integrate this information into teaching and the referral process. Nurses wiU also provide health care to people who become candidates for presymptomatic testing of common conditions as well as more rare genetic disorders. Nurses, as well as other health providers, will need adequate education to prepare them for integrating this new information into the activities of assisting people with decision making, ensuring freedom from coercion, and managing ethical issues such as protection of privacy and confidentiality. In summary, nurses provide health care to people in all settings and at all stages of illness and health. Awareness of genetics and specific genetic

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counseling interventions are becoming incorporated into nursing practice, education, and research. As genetic technologies and their applications become more widely available, nurses will become more involved in providing information about genetic testing and assisting with decision making. Delivery of genetic services will be enhanced by increased collaboration between genetic counselors and nurses.

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Monsen RB (1992) Autonomy, coping, and self-care agency in healthy adolescents and adolescents with spina bifida. J Pediat Nuts 7:9-13. Monsen RB (1984) Genetics in basic nursing program curricula: A national survey. Maternal-Child Nurs J 13:17%185. Nightingale F (1969) Notes on Nursing: What It ls, and What It Is Not. New York: Dover Publications O'Donnell-O'Toole S (1985) Adrenoleukodystrophy: A fatal disorder with new opportunities for prevention and treatment. J Neurosurg Nuts. 17:53-60. Orem, D (1985). Nursing: Concepts of Practice. New York: McGraw Hill. Phoenix BS (1986) The nursing role in metabolic management. In Felton G (ed) Proceedings o f the National Conference on Nursing Practice in Clinical Genetics: Prospects for the 21st Century. Iowa City, IA: The University of Iowa, College of Nursing, pp 145-153. Press NA, Browner CH (1993) Collective fictions: Similarities in reasons for accepting maternal serum alpha-fetoprotein screening among women of diverse ethnic and social class backgrounds. Fetal Diag Ther 8:97-106. Prows C (1992) Utilization of genetic knowledge in pediatric nursing practice. J Pediat Nurs 7:58-62. Sahin ST (1976) The multifaceted role of the nurse as genetic counselor. Matern Child Nurs 1:211-216. Scanlon C (1993) ANA Awarded NIH grant for project on managing genetic information. American Nurse. 25(6):29. Schlotfeldt R M (1972) This I believe . . . nursing is health care. blurs Outlook 20:245-246, Spitzer A (1992) Coping processes of school-age children with hemophilia. West J Nurs Res 14:157-169. The Scope of Nursing Practice (1987). The American Nurses' Association, 2420 Pershing Road, Kansas City, Missouri 64108. Thomson EJ (I993) Reproductive genetic testing: Implications for nursing education. Fetal Diag Ther 8(Suppl 1):232-235. Tinley ST (1987) Nurse's and geneticist's role expectations for the genetics nurse clinician. J Pediat Nurs 2:259-264. Williams JK (1991) ISONG Membership survey. ISONG Newslett 2:4. Williams JK (1983) Pediatric nurse practitioners' knowledge of genetic disease. Pediat Nuts 9:119-121. Williams JK (1992) School age children with Turner syndrome. J Pediat Nuts 7:14-19. Wright L, Brown A, Davidson-Mundt A (1992) Newborn screening: The miracle and the challenge. J Pediat Nurs 7:26-42.

Nursing and genetic health care.

Advances in DNA technology are leading to major developments in nursing practice in clinical genetics, including the creation of new roles for nurses ...
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