International Column Edited by Sabina De Geest Sabina De Geest, PhD, RN, NFESC, is a Professor of Nursing at the Institute of Nursing Science at the University of Basel, Basel, Switzerland, CH-4003
The Genetics Revolution and Nursing Research Laura L. Hayman
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HE DECADE OF THE 90s witnessed substantial developments in genetic science that resulted in numerous challenges and opportunities for nurses and nursing. Aptly referred to as the “genetics revolution,“ the goals, activities, and outcomes of The Human Genome Project and other genomic research has multifaceted implications for nursing practice, education, and research. This review addresses the implications of this information for nurse researchers with emphasis on the ingredients that are considered essential for the informative, responsible, and ethical inclusion of the tools and techniques of genetic science in programs of research that are focused on phenomena of concern to nurses and nursing. BACKGROUND
The Human Genome Project (HGP) was launched on October 1, 1990, with funding from the National Institutes of Health (NIH) and the Department of Energy (DOE). A major goal of HGP (now the National Institute for Human Genome Research [NIHGR]) is to generate information, tools, and molecular approaches that facilitate the understanding of normal and abnormal gene structure and function (Collins & Jenkins, 1997). Toward this goal, NIHGR activities focus on sequencing the entire human genome, discovering specific gene mutations associated with diseases, and identifying polymorphisms associated with diversity (Collins & Galas, 1993). The knowledge generated from NIHGR and related international efforts will, ultimately, influence the diagnosis, prevention, and treatment of most nontraumatic
conditions, including single-gene and polygenic disorders (Collins, 1999). Within the context and current climate of evidence-based clinical practice, the implications for nursing research are extensive. GENETICS AND NURSING RESEARCH: THE ESSENTIAL INGREDIENTS
Education and Training in Genetic Science
The National Institute of Nursing Research, National Institutes of Health (NINR-NIH) has assumed a leadership role in research initiatives that are designed to optimize the involvement of nurse scientists in genetics research. In April 1996, NINR hosted a “Science Workgroup on Opportunities in Genetics Research” (Sigmon, Grady, & Amende, 1997). This multidisciplinary expert panel identified gaps and opportunities in genetics research where nurses can make a significant contribution. Concomitantly, the workgroup emphasized research training and career development opportunities for nurse scientists. Several mechanisms focused on predoctoral, postdoctoral, and mid-career scientists were offered as viable approaches for the successful entry of nurses into genetics research (Sigmon et al., 1997). The important message from this expert panel, reaffirmed by other nurse scienLaura L. Hayman, PhD, RN, FAAN, Division of Nursing, School of Education, New York University, New York, NY. Address reprint requests to Laura L. Hayman, PhD, RN, FAAN, Professor, Division of Nursing, School of Education, New York University, 246 Greene Street, New York, NY 10003-6677. Copyright © 2001 by W.B. Saunders Company 0897-1897/01/1404-0001$35.00/0 doi:10.1053/apnr.2001.26789
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tists, is that education and training in genetic science and technology is essential. The type and content of research training will vary as a function of the career-development phase and goals of the nurse scientist and planned program of research. For example, a predoctoral candidate who plans to incorporate the tools and techniques of genetic science as an integral component of her projected program of research would pursue the necessary coursework as part of the program of study. This would require selecting a doctoral program in nursing that (a) supports the incorporation of genetic science as part of the doctoral curriculum, (b) offers the opportunity to participate in relevant faculty programs of research, and (c) maintains appropriate intra-institutional interdisciplinary linkages (i.e., established collaborative research relationships with colleagues in molecular biology, human genetics, and ethics). Alternatively, the predoctoral student may pursue the terminal degree in one of the basic sciences areas relevant to her planned program of research and genetic science. This approach has been suggested as an important viable mechanism for developing a critical cadre of nurse scientists who are prepared to integrate nursing and genetic science (Donaldson, 1999; Grady, 1997). In contrast, other options may be more effective and efficient for the mid-career scientist with an established program of research that has been developed from a synthesis of nursing and behavioral and social science. The ultimate goals of the program of research, the specific aims relevant to integration of genetic science, and access to content and/or methods expertise in those identified areas are important considerations. If the midcareer scientist restricts the level and extent of integration to ancillary or supplementary studies and has access to the necessary expertise in genetics, the extent of education and training necessary for the informative, responsible, and ethical conduct of research would be more limited than that of the predoctoral student described above. Intensive summer workshops including NINR-NIH offerings, traditional NIH research training, selected coursework, and/ or independent study may be sufficient to acquire the requisite knowledge and skills. Multidisciplinary Research Teams
The integration of nursing and genetic science in programs of research that are focused on phenomena of concern to nurses and nursing requires a
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multidisciplinary collaborative team that is composed of experts in each of the science areas relevant to the goals and aims of the defined program of research. This implies specialist expertise in genetic science; however, all key personnel on the study team including research assistants/data collectors should have generalist genetics competencies. Components of the core genetics competencies suggested by the National Coalition for Health Professional Education in Genetics (NCHPEG, 1999) are appropriate for generalist team members and provide specific knowledge, skill, and affective objectives to guide educational processes. The identified core competencies that are applicable in this context include knowledge of (a) the basic patterns of biological inheritance; (b) the role of physical, social-environmental factors that may modify the expression of health and/or disease; and (c) the potential physical and/or psychosocial benefits, limitations, and risks of susceptibility testing on individuals and their families. In addition, team members must be aware of factors that influence understanding and use of genetic information, including the sociocultural background of study participants and their families. The American Society of Human Genetics (ASHG, 1998) statement on professional disclosure of familial genetic information should be part of the armamentarium of all nurse scientists and multidisciplinary team members who conduct research in human genetics. Programs of Research
In nursing and across disciplines, programs of research are designed to build the knowledge base in a given area of inquiry. The ultimate goal of knowledge development in nursing is to inform clinical practice. To that end, a systematic plan with short- and long-term goals and objectives for incorporating genetic science in programs of nursing research will optimize the information yield and foster the responsible and ethical conduct of research. This implies a clear rationale for inclusion of genetic science and identification of the potential implications for clinical practice. For example, the interplay of genetic, environmental, and behavioral factors presents many opportunities for nurse scientists (Sigmon et al., 1997). The first phase of a program of research conceptualized within this interaction paradigm may be an observational study that uses a candidate gene approach and is designed to examine inter-individual differ-
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ences in baseline levels of a physiological characteristic. Alternatively, accumulated data may be available to support an intervention study that is focused on examining treatment responses as a function of genetic variation. Both of these observational and intervention studies require selection of an informative candidate gene that is linked with the environmental exposure and varies in the target population. Biological plausibility and feasibility within the research protocol should also be shown. Tall and colleagues (1997), reporting for the National Heart, Lung and Blood Institute’s (NHLBI) Expert Working Group on diet and genes in atherogenesis, illustrate these considerations with emphasis on candidate gene-diet interactions. This NHLBI Expert Working Group also emphasized the need for additional interdisciplinary research in this aspect of genetic science and identified three general categories of research that show the logical progression of knowledge development: (a) the use of animal models to map and identify candidate genes involved in dietary responsiveness and atherogenesis, (b) the evaluation of these genes in specific physiological processes involved in dietary responsiveness and atherogenesis, and (c) extension of studies performed in animal models to human populations using linkage or association studies (Tall et al., 1997). SUMMARY
The genetics revolution offers both opportunities and challenges for nurse scientists. Knowledge generated from NIHGR and related efforts will influence diagnosis, prevention, and treatment of most nontraumatic conditions. Given the range of phenomena of concern to nurses and nursing (Donaldson & Crowley, 1978), the opportunities for knowledge generation are extensive. Nurse scientists are encouraged and challenged to incorporate the tools and techniques of genetic science in research that is designed with the ultimate goal of informing clinical practice. To this end, education and training in genetic science, multidisciplinary collaborative research teams, and programs of research are considered essential to the optimal integration of genetic and nursing science. REFERENCES Collins, F.S. (1999). Shattuck lecture: Medical and societal consequences of the human genome project. New England Journal of Medicine, 341(1), 28-37.
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Collins, F.S., & Galas, D. (1993). A new five-year plan for the U.S. Human Genome Project. Science, 262, 43-46. Collins, F.S., & Jenkins, J. (1997). Implications of the human genome project for the nursing profession. In F.R. Lashley (Ed.), The Genetics Revolution: Implications for Nursing (pp. 9-14). Washington, DC: American Academy of Nursing. Donaldson, A.K. (1999). Genetic research and knowledge in the discipline of nursing. Biological Research for Nursing, 1(2),90-99. Donaldson, S.K., & Crowley, D.M. (1978). The discipline of nursing. Nursing Outlook, 26(2), 113-120. Grady, P.A. (1997). The genetics revolution: The role of the National Institute of Nursing Research. In: F.R. Lashley (Ed.), The Genetics Revolution: Implications for Nursing (pp. 27-32). Washington, DC: American Academy of Nursing. National Coalition for Health Professional Education in Genetics (1999, November). (Available: http://www.NCHPEG.org). Sigmon, H.D., Grady, P.A., & Amende, L.M. (1997). The National Institute of Nursing Research explores opportunities in genetics research. Nursing Outlook, 45, 215-219. Tall, A., Welch, C., Applebaum-Bowden, D., Wassef, M., & the Working Group (1997). Interaction of diet and genes in atherogenesis: Report of an NHLBI Working Group. Arteriosclerosis, Thrombosis, and Vascular Biology, 17, 3326-3331. The American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure (1998). Professional disclosure of familial genetic information. American Journal of Human Genetics, 62, 474-483. COMMENT 1
What a wonderful opportunity for nurses: to be involved with a revolution at the beginning! This opportunity, however, brings with it the tremendous responsibility of being able to recognize the implications of genetic science for the profession as well as for consumers of health care services. Only then can outcomes of nursing research have the potential to influence policy development, design of clinical services, and adequacy of nursing in ensuring safe and ethical application of genetics information. I see the beginning recognition by nurses of the possibilities but fear that we will be insufficiently proactive to revolutionize our profession in time to lead the way to the future. There is expansive open territory for nursing research related to the application of genetic information. The focus of research to date has included consumer interest in genetic testing, impact of genetic testing for individuals and families, and methods for education about genetics. As Dr. Hayman details, there is extensive need for research that paves the way for successful utilization of genetic information for the improvement of everyone’s health. Assessing the health needs of populations will guide the design of genetics practice
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that offers services across the life span. Issues such as risk communication and decision making challenge nurses explaining concepts of predisposition genetic testing and requires education-based research. Policy that limits access, use, or quality of services requires nursing input to improve on economic and institutional barriers to incorporating genetic factors into the management of individuals and families. There is indeed work to be done, but transformation requires the vision to see alternative futures and the courage to alter structures that have outlived their usefulness. Become a leader to the future. Opportunities for genetics nursing research funding are increasingly available; see http://nursing. creighton.edu/isong for more information. Jean F. Jenkins PhD, RN, FAAN, NIHGR COMMENT 2
Dr. Hayman highlights a number of issues that pertain to one of the most significant advances in biological knowledge the world has seen—the sequencing of the human genome. The knowledge and molecular techniques that will continue to emerge from the human genome project are changing the face of health care that will evolve in the new millennium. The impact of this new genetic knowledge on medicine, health care, and society in general will be of such significance that it will be imperative that nurses have the knowledge, skills, and resources to offer the support, care, and guidance that their clients will require. Although the significance of genetics and the implications it would have for nursing has been alluded to by a
number of authors over the last 40 years, the attention given to genetics in most current undergraduate nursing programs is limited. Dr. Hayman identifies the need for education and training as an important issue to be addressed by nurse educators, researchers, managers, and clinicians. It is widely recognized that clinical nursing should be based on the best body of scientific knowledge available. Dr. Hayman emphasizes the need for nurses to develop their own genetics competencies and research programs and to establish a scientific and clinical knowledge base in genetics that will both inform and underpin the inclusion of genetics into clinical nursing practice. Research in genetics is vibrant, exciting, and stimulating. Genetic science will undoubtedly assume an increasingly important role in health care in which nurses must contribute to the body of genetics knowledge as it relates to nursing practice. Dr. Hayman outlines how nurses can make such a contribution and highlights the need for multidisciplinary collaborative research. Nurses are health care professionals who are ideally placed to inform and explain the implications of genetic studies to clients and families. The need for research and development in both genetic science and clinical genetics is apparent; nurses must get on board. Dr M. J. (Nick) Nicol Associate Professor, Health Science UCOL (Universal College of Learning) Palmerston North New Zealand