- Email: [email protected]
The national institute of nursing research explores opportunities in genetics research
The National Institute of Nursing Research Explores Opportunities in Genetics Research Hilary D. Sigmon, PhD, RN Patricia A. Grady, PhD, RN, FAAN Lynn M. Amende, PhD
Genetics offers many opportunities for nursing research, ranging from basic biologic and behavioral investigations to clinical and population studies, and nurse researchers offer a unique perspective and special expertise that is not otherwise found in genetics research. Nurse researchers can take leadership roles and contribute to basic genetic studies with their biologic, environmental, and behavioral linkages; the genetic determination of physiologic responses; and applied studies aimed at translating basic science findings into interventions to solve clinical problems.
T
he National Institute of Nursing Research (NINR) hosted a Spring Science Workgroup on Opportunities in Genetics Research on April 19, 1996, at the National Institutes of Health (NIH). The workgroup addressed the following three topics: science areas in genetics research, critical research directions, and re-
NINR is pleased to acknowledge the panel members of the Opportunities in Genetics Research Workgroup: Dr. Jan R. Atwood, Omaha, Neb.; Dr. Sue K. Donaldson, Baltimore, Md.; Dr. Geraldene Felton, Iowa City, Iowa; Dr. Wendy J. Fibison, Bethesda, Md.; Dr. Neil A. Holtzman, Baltimore, Md.; Dr. Suzanne T. Ildstad, Pittsburgh, Pa.; Dr. Susan Janson, San Francisco, Calif.; Ms. Jeannie Jenkins, Bethesda, Md.; Dr. Carol Landis, Seattle, Wash.; Ms. Lois J. Loescher, Tucson, Ariz.; Ms. Agnes Masny, Cheltenham, Pa.; Dr. Bonnie L. Metzger, Ann Arbor, Mich.; Dr. Judith S. Stern, Davis, Calif.; Ms. Elizabeth Thomson, Bethesda, Md.; and Dr. Janet Williams, Iowa City, Iowa. Nurs O u t l o o k
1997;45:215-9.
3511183615 NURSING OUTLOOK
search training and career development opportunities. The workgroup also identified gaps and opportunities in genetics research where nurse researchers can make a significant contribution, in such areas as gene-environment-behavioral interface; biologic, psychosocial, and neuroimmunologic markers; basic research; biologic psychosocial intervention and counseling related to genetic health; cognitive models of patients' decision making processes; new approaches to health care delivery; and strategies for primary care providers.
SCIENCE AREAS AND OPPORTUNITIES
The Gene-EnvironmentaFBehavioral Interface The interplay of genetic, environmental, and behavioral factors presents many opportunities for nursing research, hnportant areas for study include delaying the onset
SEPTEMBER/OCTOBER 1997
of chronic conditions by modifying environmental and behavioral factors and addressing the individual genetic predisposition to disease. The workgroup identified three critical questions for nurse researchers to consider: For which chronic diseases is genetic information available to begin interventions? Do data exist to indicate that when known genetic predispositions exist, disease responses can be modified? How can intervention and treatment programs for genetically predisposed diseases be improved? For scientists interested in genetics research, the following distinction might be made between populations of persons with a given disease or persons at risk of acquiring a disease: those in whom ge-
Important areas for study include delaying the onset of chronic conditions by modifying environmental and behavioral factors and addressing the individual genetic predisposition to disease. netic factors may be involved (80% to 90% of all the individuals), and those in whom genetic factors can clearly be confirmed (5% to 10% of the individuals). The relationship between genotype and phenotype is very complex. Research questions for these two groups and between the groups will vary. Sigmon, Grady, and A m e n d e
215
Biologic, Psychosocial, and Neuroirnrnunologic Markers Biologic, psychosocial, and neuroimmunologic markers should be developed for use in identifying persons at risk, monitoring adherence and outcomes, and evaluating the effectiveness of interventions. Such markers identified for genetic diseases may include genotypes, phenotypes, and neuroimmunologic responses. Especially needed are studies of the interrelationships among these markers and linkage to environmental and behavioral factors involved in individual response to illness and treatment. Applicable, targeted, cost-effective screening schedules and mechanisms are needed.
Nurse scientists can use their understanding o f environmental and psychosocial factors to influence the success o f interventions, care management, and health outcomes.
Nurse researchers are beginning to contribute to research on markers. A key aspect of this research is the delineation of the best methods for compiling and measuring symptoms that will serve as markers of disease for diagnosis, disease progression, and treatment. Nurse scientists can use their understanding of environmental and psychosocial factors to influence the success of interventions, care management, and health outcomes. The goal is to identify and isolate disease markers and risk factors for persons with genetic conditions and in individuals and families at risk of developing genetic conditions. Progress in this area of research would enable clinicians to tailor prevention strategies for at-risk persons and test interventions for treating persons with genetic illnesses.
Other Basic Research in Genetics In December 1995, NIH released a document entitled "Report and Recommendations of the Panel to Assess the N I H Investment in Research on Oene Therapy." One conclusion made by the panel was that more basic research is needed to understand the pathophysiology of disease and the action of gene transfer vectors (e.g., cell-cell 216
Sigmon, Grady, and Amende
and gene-gene interactions). Another statement from the panel was that the benefits and promises of gene therapy still lie in the future. Nurse researchers can influence this important research area by testing approaches to treatment, prevention, and management of disease. This research also may lead to the possibility of genetically modifying a person's biologic composition (i.e., predisposition to disease). Workgroup participants emphasized the need for rapid incorporation of new findings into valid and reliable psychosocial interventions. A major gap in genetics research is the lack of integration with behavioral sciences, an arena in which nurse researchers are visibly major participants. The initiation of studies that blend genetics bench research with the behavioral sciences is critical for the transfer of laboratory findings into clinical practice. This research would address such questions as how persons make decisions, what information is conveyed to patients and how it is conveyed, how directive health care providers should counsel patients about genetic tests, and the use of genetic information by patients and others. Nurse researchers are in a unique position to study these types of questions. Their results will benefit health care providers responsible for counseling patients and families about genetic testing and receiving genetic information. While acknowledging that studies of health care management are outside the mission of the NINR, the workgroup encouraged NINR to discuss with other agencies how genetic information might be incorporated into behavioral studies to develop improved strategies for health care management and policy.
BiopsychosocialIntervention and Counseling Related to Genetic Health The workgroup encouraged nurse researchers to participate in intervention studies related to genetics. Areas ready for study include the identification and verification of persons at high risk of developing a genetic disease, ethical issues related to genetic health, outcome measures, assessment of the need for and impact of genetic testing, and development of effective care strategies. Biological and psychosocial variables as outcome measures. Research is needed to identify outcome measures for quantify-
ins the success (effectiveness), or positive change, of interventions (e.g., symptom management) and treatments (e.g., gene therapy) for persons with chronic diseases. Nurse researchers have experience and
The initiation o f studies that blend genetics bench research with the behavioral sciences is critical for the transfer o f laboratory findings into clinical practice.
knowledge to contribute to the definition and understanding of a number of outcome measures, including quality of life, change in health status, patient's satisfaction, risk-factor profiles, risk-reduction behavior, improved health, and costs. Other factors contributing to quality of life parameters (e.g., locus of control, health beliefs, fatigue, body mass index, T-cell counts, and cytokine levels) also have been identified as possible biologic and psychosocial markers and risk factors for illness. Appropriate models need to be developed for counseling individuals and families at risk and for improving care based on the information gained from these studies. Genetic testing. Studies by nurse researchers have explored individual attitudes to genetic testing. Nurse researchers can continue to play an important role in describing, characterizing, and explaining the responses of individuals and families to genetic testing and test results. These responses, which can greatly influence clinical outcomes, often relate to perceived risk, learning styles, social stigma, and fears of becoming ill. The workgroup recommended additional studies to clarify the impact of such factors on the timing and method of conveying genetic information to individuals and families, especially children; to design effective interventions, including group approaches, based on this understanding; and to develop models for guiding health care providers in presenting the risk of developing a genetic illness to patients. The workgroup also identified several research questions related to the testing of persons for genetic conditions in the absence of symptoms. The effectiveness, tim-
VOLUME 45 • NUMBER 5
NURSING OUTLOOK
ing, and use of testing need to be assessed in relation to health, clinical, and cost outcomes for different diseases and populations. Another area still unexplored is the dimensions of an individual's satisfaction with the provision of genetic information. Issues to be addressed in this area include the timing and use of the information, individual decisi0n-making processes concerning use of information, and individual satisfaction with caregivers and conveyors of information. The vast literature developed by nurse researchers on grief and grieving also may be applicable to understanding the outcomes of genetic testing and counseling. Genetic testing of children raises additional ethical questions. Further research may clarify issues critical to the genetic testing of children, such as the age at which testing is appropriate, informed consent issues in genetic testing, and how understanding of the implications of results can be monitored in children.
Further research may clarify issues critical to the genetic testing of children, such as the age at which testing is appropriate, informed consent issues in genetic testing, and how understanding of the implications of results can be monitored in children. Nurse researchers can also greatly facilitate the exploration of issues related to privacy of genetic information. The use and potential misuse of this information by employers, insurance companies, and family members are concerns, as are the marketing of genetic screening kits, uninformed screening, and potential rationing of care predicated on a diagnosis following genetic testing. Sound models for ensuring privacy need to be identified and disseminated among health care providers and policy makers. Care strategies. Nurse researchers are encouraged to continue to conduct studies aimed at establishing effective interventions to mitigate chronic illness. In genetics research, nurses can play a key role in coordinating the findings from clinical NURSING OUTLOOK
studies and the results obtained from basic investigations of genetic mechanisms. By discriminating among genetic, environmental, and behavioral factors involved in the onset and progression of disease, researchers will be able to develop more effective intervention strategies, as well as longitudinal and multifactorial models f~r predicting the development of disease in susceptible individuals and families. An i m p o r t a n t ingredient in this research should be nursing's holistic perspective and attention to the full continuum of care.
velop effective strategies for preventing, mediating, and reversing some genetic disease symptoms. A whole-person approach requires that health care providers have basic knowledge of the influence of genetics on human health. Observing population and community appraache~ a~ examples of health care delivery models makes it clear that the delivery of genetic information and related care to aggregate groups (e.g., families, communities, and populations) is lacking. Careful examination of population subgroups (phenotypes) within at-risk populations, as well
Cognitive Models of Patients' Decision-making Processes Many issues have yet to be explored concerning the decision-making process of patients and families with respect to their health and illness. Especially important would be studies to determine the cognitive mechanisms and experiential and cultural influences in decision making. It is not clear how individuals and families cognitively process information and make decisions concerning genetic information that may affect them directly and/or relate to other family members. Research into cognitive models of decision making confirm that because persons vary in this regard, important behavioral variables probably dramatically influence not only health and wellness but also associated health care costs through the utilization or nonutilization of genetic testing. In addition, this knowledge could form the basis for counseling and intervention approaches for patients and families.
New Approaches to Health Care Delivery Increasingly, individuals with multiple, interrelated disease problems are seeking coordinated treatment as "whole persons." Participants in the workgroup propose that a "whole-person" approach to health care is essential to foster the structure and delivery of health care services to meet multiple health care needs. In collaboration with nurse researchers, family care providers, including nurse practitioners, can play an important role in counseling individuals. Comparative data are especially needed on the effectiveness of different gene therapies and rehabilitative approaches for most chronic diseases. Nurse researchers can collaborate with physicians, nurse practitioners, and other health care providers in using emerging genetic information to de-
SEPTEMBER/OCTOBER 1997
Comparative data are especially needed on the effectiveness of different gene therapies and rehabilitative approaches for most chronic diseases.
as qualitative research, is also needed. For nurse researchers, such studies will require a shift in focus from studying health issues across populations to studying specific phenotype (marker) variations. O n the other hand, paradigms developed to characterize these differences may be applicable across populations and diseases. In adopting the p o p u l a t i o n and community-based perspective, nurse researchers will need to give special attention to multipurpose intervention studies, development of family models that allow for different definitions of family, and multifactorial studies in which cohorts are followed over a long period of time. Strong replicated findings are essential. Integrated research that includes both descriptive and intervention studies are especially needed for groups particularly vulnerable to, or at high risk of, developing chronic diseases. These groups include minorities, populations with special care needs, and families currently underserved by the health care system.
Strategies for Primary Care Providers Primary care providers need assistance in developing effective strategies for improving communication with patients regarding genetic testing and the conveying of genetic information. Strategies that are common in the practice of genetic counSigmon, Grady, and Amende
217
seling may not fit a primary care provider model. Consideration must be given to variations in individual and family approaches to decision making about genetic testing and the implication of the test resuits. Nurse researchers can assist not only in development of new models and strategies of communication but also in the protection and monitoring of patients and health care workers involved in gene transfer, in treatment for interventions such as transplantation, in guiding patients and families in the use of genetic information to make health-related decisions, and in therapeutic ethical approaches to ensure the safety and efficacy of treatments. RESEARCH DIRECTIONS Specific research directions for nursing research in genetics summarized by the workgroup include the following: • Outcome measures. Delineate clinical endpoints (e.g., risk factor profiles and quality of life) for interventions that are directed toward modifying genetic, biologic, psychosocial (including behavior and lifestyle), and environmental factors involved in chronic illnesses. • Disease markers. Identify and correlate genetic, biopsychosocial, and immunologic indicators of multifactorial chronic diseases and conditions. Identify individuals and families at risk of developing specific chronic diseases based on an assessment of genetic, biopsychosocial, and immunologic markers. Verify the validity, reliability, and specificity of disease markers for identifying at-risk persons, preventing or delaying onset of illnesses, detecting and diagnosing disease, monitoring the development and progression of disease, managing symptoms, establishing effective interventions, and ensuring the patient's adherence to treatment. • Disease mechanisms. Conduct behavioral research in conjunction with basic research studies to clarify the cause and pathophysiologic features of chronic, genetically based illnesses. • Predictive models. Develop longitudinal, multifactorial prototypes based on genetic, biologic, psychosocial, and environmental markers to predict the development of disease. Apply these 218
Sigmon, Grady, and Amende
•
•
•
•
•
•
•
models in the development of prevention and risk reduction strategies for different populations and groups. Holistic approaches. Develop effective nursing interventions that adopt a "whole-person" (holistic) strategy along a continuum of care (e.g., from counseling to symptom management and rehabilitation) for patients with genetic conditions and a genetic predisposition to diseases. Patients' decision-making processes. Design and test specific nursing interventions (e.g., counseling and contracting) for assisting persons in assessing their risk reduction, satisfaction, and quality of life in relation to decisions made before and after genetic testing. Risk-reduction behaviors. Describe patients' reasoning to practice new behaviors that prevent or delay the onset of predisposed disease processes, identify and reinforce appropriate risk-reduction behaviors, and develop strategies for persons who do not modify their behaviors. Patients' learning styles. Determine the factors necessary for patients to comprehend genetic information and, on the basis of this information, to change health practices, particularly for patients with chronic conditions such as obesity, asthma, and cardiovascular disease. Coping behaviors. Describe attitudes and behaviors that place people at risk for developing genetic disease. Design and develop clinical interventions for helping persons obtain genetic information and to change attitudes that place them at risk for acquiring genetic disease. Communication styles. Identify cues associated with grief and grieving and use this knowledge to design and test interventions for helping families understand and live with genetic conditions or diseases. Perceived risk. Assess outcome measures for individuals and families concerned with the possibility of developing a genetic condition, including appropriate screening. Assess client understanding of the probability of developing genetic diseases when teaching and counseling about risks for genetic conditions.
* Fear and social stigma. Identify physiologic and psychologic sequelae for individuals and families with genetic disease in relation to apprehensions about becoming ill and concerns of isolation from family and friends. • Special population groups. Determine effective intervention approaches (e.g., for symptom management) and the optimal times for intervening with children diagnosed with a fatal disease, adolescents diagnosed with a lifestylecompromising disease, elders needing to make end-of-life decisions, and persons with special care needs. • Delivery of care. Develop and test new strategies for improving and coordinating clinical practice by health practitioners for populations and patients with a genetic illness. • Information strategies. Design and implement effective methods for conveying knowledge about genetic conditions and genetic testing to aggregate groups (communities, populations). • Ethical issues. Identify and address ethical issues in product development, marketing, qualitative research, price structures, and access. NINR has published a program announcement highlighting these research directions, "Opportunities in Genetics and Nursing Research," PA-97-047. T R A I N I N G A N D CAREER D E V E L O P M E N T OPPORTUNITIES Two general approaches exist for developing a cadre of researchers trained in both nursing and genetics: providing additional basic science education for nurse scientists, and attracting basic scientists into nursing research. Basic science preparation for nurse scientists can be fostered specificallythrough sequential predoctoral and postdoctoral research training, supplemental awards to existing research training grants, postdoctoral and mid-career research training, and faculty research training through continuing education and/or summer programs. A combined predoctoral and postdoctoral research training program can include basic genetics research with predoctoral nursing sciences. Workgroup participants supported predoctoral and postdoctoral research training in genetics research for nurse scientists and similar reciprocal research training for predoctoral and postdoctoral fellows in molecular biology and genetics who would be mentors for
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NURSING OUTLOOK
nurse scientists during their research training. NINR has published a program announcement for postdoctoral and senior fellowship training, "Linking Nursing and Genetic Research-Individual Postdoctoral and Senior Fellowships," PA-97-039. Mid-career research and career development training should be emphasizedfor newly independent (junior) and senior nurse researchers to enable them to be knowledgeable about current genetic technology. Such research training could be supported by curricula available through professional groups, traditional NIH research training and career development mechanisms, continuing education, or intensive summer programs. Workgroup participants supported incorporation of a combination of basic science content and clinical approaches (e.g., genetic testing and counseling) into these research training programs. Besides formal education for nurse researchers, clinical settings and nursing organizations need to reach out to nurses and other health care providers to provide opportunities for learning about genetics. Participants reinforced the urgency of the need for a basic genetic curriculum for nurses working in the current health care system, particularly as genetic knowledge is exploding into the daily lives of patients through lay magazines, radio, television, and newspapers.
CONCLUSION Genetic research can be a major force for stimulating interdisciplinary collaboration among nurse researchers because it is related to all areas of nursing science. As a relatively new area of study for nurse researchers, genetics also offers nurse scientists a special opportunity to initiate multidisciplinary efforts to develop important contributions to nursing and genetics research. The workgroup participants encouraged nurse scientists to stimulate genetics research by organizing cooperative relationships with researchers in other disciplines, "piggybacking" nursing research components onto existing or new studies, and/or sharing expertise on various aspects of genetics research at scientific gatherings. Nurse researchers can take leadership roles and contribute to basic genetic studies with their biologic, environmental, and behavioral linkages; the genetic determination of physiologic responses; and applied studies aimed at translating basic science findings into health care management and delivery. Nurse researchers are especially well positioned for fostering the necessary connection between basic and applied studies through the development and implementation of improved strategies for preventing and managing genetic disease.
The multidisciplinary collaboration of basic and clinical scientists involved in genetics research is especially important to address biobehavioral issues. The genetics workgroup recommended strategies for promoting such interactions, including collaborative seminars and workgroups in academia, c o n v e n i n g muhidisciplinary conferences, creating "learning communities" of genetics researchers within universities, and seeking participation on genetics-related NIH projects. The development of a cadre of nurse scientists trained in genetics research is the key link to translating research findings from biobehavioral research into clinical practice. Successful entry of nurse scientists into genetics research will further reinforce the benefits of multidisciplinary research training. •
HILARY D. SIGMON is Scientific Program Administrator at the National Institute of Nursing Research, National Institutes of Health. PATRICIA A. GRADY is Director of the National Institute of Nursing Research, National Institutes of Health. LYNN M. AMENDE is Director of the Division of Extramural Activities, National Institutes of Health.
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NURSING OUTLOOK
SEPTEMBER/OCTOBER1997
Sigmon, Grady, and Amende
219
Genetics offers many opportunities for nursing research, ranging from basic biologic and behavioral investigations to clinical and population studies, and nurse researchers offer a unique perspective and special expertise that is not otherwise found in genetics research. Nurse researchers can take leadership roles and contribute to basic genetic studies with their biologic, environmental, and behavioral linkages; the genetic determination of physiologic responses; and applied studies aimed at translating basic science findings into interventions to solve clinical problems.
T
he National Institute of Nursing Research (NINR) hosted a Spring Science Workgroup on Opportunities in Genetics Research on April 19, 1996, at the National Institutes of Health (NIH). The workgroup addressed the following three topics: science areas in genetics research, critical research directions, and re-
NINR is pleased to acknowledge the panel members of the Opportunities in Genetics Research Workgroup: Dr. Jan R. Atwood, Omaha, Neb.; Dr. Sue K. Donaldson, Baltimore, Md.; Dr. Geraldene Felton, Iowa City, Iowa; Dr. Wendy J. Fibison, Bethesda, Md.; Dr. Neil A. Holtzman, Baltimore, Md.; Dr. Suzanne T. Ildstad, Pittsburgh, Pa.; Dr. Susan Janson, San Francisco, Calif.; Ms. Jeannie Jenkins, Bethesda, Md.; Dr. Carol Landis, Seattle, Wash.; Ms. Lois J. Loescher, Tucson, Ariz.; Ms. Agnes Masny, Cheltenham, Pa.; Dr. Bonnie L. Metzger, Ann Arbor, Mich.; Dr. Judith S. Stern, Davis, Calif.; Ms. Elizabeth Thomson, Bethesda, Md.; and Dr. Janet Williams, Iowa City, Iowa. Nurs O u t l o o k
1997;45:215-9.
3511183615 NURSING OUTLOOK
search training and career development opportunities. The workgroup also identified gaps and opportunities in genetics research where nurse researchers can make a significant contribution, in such areas as gene-environment-behavioral interface; biologic, psychosocial, and neuroimmunologic markers; basic research; biologic psychosocial intervention and counseling related to genetic health; cognitive models of patients' decision making processes; new approaches to health care delivery; and strategies for primary care providers.
SCIENCE AREAS AND OPPORTUNITIES
The Gene-EnvironmentaFBehavioral Interface The interplay of genetic, environmental, and behavioral factors presents many opportunities for nursing research, hnportant areas for study include delaying the onset
SEPTEMBER/OCTOBER 1997
of chronic conditions by modifying environmental and behavioral factors and addressing the individual genetic predisposition to disease. The workgroup identified three critical questions for nurse researchers to consider: For which chronic diseases is genetic information available to begin interventions? Do data exist to indicate that when known genetic predispositions exist, disease responses can be modified? How can intervention and treatment programs for genetically predisposed diseases be improved? For scientists interested in genetics research, the following distinction might be made between populations of persons with a given disease or persons at risk of acquiring a disease: those in whom ge-
Important areas for study include delaying the onset of chronic conditions by modifying environmental and behavioral factors and addressing the individual genetic predisposition to disease. netic factors may be involved (80% to 90% of all the individuals), and those in whom genetic factors can clearly be confirmed (5% to 10% of the individuals). The relationship between genotype and phenotype is very complex. Research questions for these two groups and between the groups will vary. Sigmon, Grady, and A m e n d e
215
Biologic, Psychosocial, and Neuroirnrnunologic Markers Biologic, psychosocial, and neuroimmunologic markers should be developed for use in identifying persons at risk, monitoring adherence and outcomes, and evaluating the effectiveness of interventions. Such markers identified for genetic diseases may include genotypes, phenotypes, and neuroimmunologic responses. Especially needed are studies of the interrelationships among these markers and linkage to environmental and behavioral factors involved in individual response to illness and treatment. Applicable, targeted, cost-effective screening schedules and mechanisms are needed.
Nurse scientists can use their understanding o f environmental and psychosocial factors to influence the success o f interventions, care management, and health outcomes.
Nurse researchers are beginning to contribute to research on markers. A key aspect of this research is the delineation of the best methods for compiling and measuring symptoms that will serve as markers of disease for diagnosis, disease progression, and treatment. Nurse scientists can use their understanding of environmental and psychosocial factors to influence the success of interventions, care management, and health outcomes. The goal is to identify and isolate disease markers and risk factors for persons with genetic conditions and in individuals and families at risk of developing genetic conditions. Progress in this area of research would enable clinicians to tailor prevention strategies for at-risk persons and test interventions for treating persons with genetic illnesses.
Other Basic Research in Genetics In December 1995, NIH released a document entitled "Report and Recommendations of the Panel to Assess the N I H Investment in Research on Oene Therapy." One conclusion made by the panel was that more basic research is needed to understand the pathophysiology of disease and the action of gene transfer vectors (e.g., cell-cell 216
Sigmon, Grady, and Amende
and gene-gene interactions). Another statement from the panel was that the benefits and promises of gene therapy still lie in the future. Nurse researchers can influence this important research area by testing approaches to treatment, prevention, and management of disease. This research also may lead to the possibility of genetically modifying a person's biologic composition (i.e., predisposition to disease). Workgroup participants emphasized the need for rapid incorporation of new findings into valid and reliable psychosocial interventions. A major gap in genetics research is the lack of integration with behavioral sciences, an arena in which nurse researchers are visibly major participants. The initiation of studies that blend genetics bench research with the behavioral sciences is critical for the transfer of laboratory findings into clinical practice. This research would address such questions as how persons make decisions, what information is conveyed to patients and how it is conveyed, how directive health care providers should counsel patients about genetic tests, and the use of genetic information by patients and others. Nurse researchers are in a unique position to study these types of questions. Their results will benefit health care providers responsible for counseling patients and families about genetic testing and receiving genetic information. While acknowledging that studies of health care management are outside the mission of the NINR, the workgroup encouraged NINR to discuss with other agencies how genetic information might be incorporated into behavioral studies to develop improved strategies for health care management and policy.
BiopsychosocialIntervention and Counseling Related to Genetic Health The workgroup encouraged nurse researchers to participate in intervention studies related to genetics. Areas ready for study include the identification and verification of persons at high risk of developing a genetic disease, ethical issues related to genetic health, outcome measures, assessment of the need for and impact of genetic testing, and development of effective care strategies. Biological and psychosocial variables as outcome measures. Research is needed to identify outcome measures for quantify-
ins the success (effectiveness), or positive change, of interventions (e.g., symptom management) and treatments (e.g., gene therapy) for persons with chronic diseases. Nurse researchers have experience and
The initiation o f studies that blend genetics bench research with the behavioral sciences is critical for the transfer o f laboratory findings into clinical practice.
knowledge to contribute to the definition and understanding of a number of outcome measures, including quality of life, change in health status, patient's satisfaction, risk-factor profiles, risk-reduction behavior, improved health, and costs. Other factors contributing to quality of life parameters (e.g., locus of control, health beliefs, fatigue, body mass index, T-cell counts, and cytokine levels) also have been identified as possible biologic and psychosocial markers and risk factors for illness. Appropriate models need to be developed for counseling individuals and families at risk and for improving care based on the information gained from these studies. Genetic testing. Studies by nurse researchers have explored individual attitudes to genetic testing. Nurse researchers can continue to play an important role in describing, characterizing, and explaining the responses of individuals and families to genetic testing and test results. These responses, which can greatly influence clinical outcomes, often relate to perceived risk, learning styles, social stigma, and fears of becoming ill. The workgroup recommended additional studies to clarify the impact of such factors on the timing and method of conveying genetic information to individuals and families, especially children; to design effective interventions, including group approaches, based on this understanding; and to develop models for guiding health care providers in presenting the risk of developing a genetic illness to patients. The workgroup also identified several research questions related to the testing of persons for genetic conditions in the absence of symptoms. The effectiveness, tim-
VOLUME 45 • NUMBER 5
NURSING OUTLOOK
ing, and use of testing need to be assessed in relation to health, clinical, and cost outcomes for different diseases and populations. Another area still unexplored is the dimensions of an individual's satisfaction with the provision of genetic information. Issues to be addressed in this area include the timing and use of the information, individual decisi0n-making processes concerning use of information, and individual satisfaction with caregivers and conveyors of information. The vast literature developed by nurse researchers on grief and grieving also may be applicable to understanding the outcomes of genetic testing and counseling. Genetic testing of children raises additional ethical questions. Further research may clarify issues critical to the genetic testing of children, such as the age at which testing is appropriate, informed consent issues in genetic testing, and how understanding of the implications of results can be monitored in children.
Further research may clarify issues critical to the genetic testing of children, such as the age at which testing is appropriate, informed consent issues in genetic testing, and how understanding of the implications of results can be monitored in children. Nurse researchers can also greatly facilitate the exploration of issues related to privacy of genetic information. The use and potential misuse of this information by employers, insurance companies, and family members are concerns, as are the marketing of genetic screening kits, uninformed screening, and potential rationing of care predicated on a diagnosis following genetic testing. Sound models for ensuring privacy need to be identified and disseminated among health care providers and policy makers. Care strategies. Nurse researchers are encouraged to continue to conduct studies aimed at establishing effective interventions to mitigate chronic illness. In genetics research, nurses can play a key role in coordinating the findings from clinical NURSING OUTLOOK
studies and the results obtained from basic investigations of genetic mechanisms. By discriminating among genetic, environmental, and behavioral factors involved in the onset and progression of disease, researchers will be able to develop more effective intervention strategies, as well as longitudinal and multifactorial models f~r predicting the development of disease in susceptible individuals and families. An i m p o r t a n t ingredient in this research should be nursing's holistic perspective and attention to the full continuum of care.
velop effective strategies for preventing, mediating, and reversing some genetic disease symptoms. A whole-person approach requires that health care providers have basic knowledge of the influence of genetics on human health. Observing population and community appraache~ a~ examples of health care delivery models makes it clear that the delivery of genetic information and related care to aggregate groups (e.g., families, communities, and populations) is lacking. Careful examination of population subgroups (phenotypes) within at-risk populations, as well
Cognitive Models of Patients' Decision-making Processes Many issues have yet to be explored concerning the decision-making process of patients and families with respect to their health and illness. Especially important would be studies to determine the cognitive mechanisms and experiential and cultural influences in decision making. It is not clear how individuals and families cognitively process information and make decisions concerning genetic information that may affect them directly and/or relate to other family members. Research into cognitive models of decision making confirm that because persons vary in this regard, important behavioral variables probably dramatically influence not only health and wellness but also associated health care costs through the utilization or nonutilization of genetic testing. In addition, this knowledge could form the basis for counseling and intervention approaches for patients and families.
New Approaches to Health Care Delivery Increasingly, individuals with multiple, interrelated disease problems are seeking coordinated treatment as "whole persons." Participants in the workgroup propose that a "whole-person" approach to health care is essential to foster the structure and delivery of health care services to meet multiple health care needs. In collaboration with nurse researchers, family care providers, including nurse practitioners, can play an important role in counseling individuals. Comparative data are especially needed on the effectiveness of different gene therapies and rehabilitative approaches for most chronic diseases. Nurse researchers can collaborate with physicians, nurse practitioners, and other health care providers in using emerging genetic information to de-
SEPTEMBER/OCTOBER 1997
Comparative data are especially needed on the effectiveness of different gene therapies and rehabilitative approaches for most chronic diseases.
as qualitative research, is also needed. For nurse researchers, such studies will require a shift in focus from studying health issues across populations to studying specific phenotype (marker) variations. O n the other hand, paradigms developed to characterize these differences may be applicable across populations and diseases. In adopting the p o p u l a t i o n and community-based perspective, nurse researchers will need to give special attention to multipurpose intervention studies, development of family models that allow for different definitions of family, and multifactorial studies in which cohorts are followed over a long period of time. Strong replicated findings are essential. Integrated research that includes both descriptive and intervention studies are especially needed for groups particularly vulnerable to, or at high risk of, developing chronic diseases. These groups include minorities, populations with special care needs, and families currently underserved by the health care system.
Strategies for Primary Care Providers Primary care providers need assistance in developing effective strategies for improving communication with patients regarding genetic testing and the conveying of genetic information. Strategies that are common in the practice of genetic counSigmon, Grady, and Amende
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seling may not fit a primary care provider model. Consideration must be given to variations in individual and family approaches to decision making about genetic testing and the implication of the test resuits. Nurse researchers can assist not only in development of new models and strategies of communication but also in the protection and monitoring of patients and health care workers involved in gene transfer, in treatment for interventions such as transplantation, in guiding patients and families in the use of genetic information to make health-related decisions, and in therapeutic ethical approaches to ensure the safety and efficacy of treatments. RESEARCH DIRECTIONS Specific research directions for nursing research in genetics summarized by the workgroup include the following: • Outcome measures. Delineate clinical endpoints (e.g., risk factor profiles and quality of life) for interventions that are directed toward modifying genetic, biologic, psychosocial (including behavior and lifestyle), and environmental factors involved in chronic illnesses. • Disease markers. Identify and correlate genetic, biopsychosocial, and immunologic indicators of multifactorial chronic diseases and conditions. Identify individuals and families at risk of developing specific chronic diseases based on an assessment of genetic, biopsychosocial, and immunologic markers. Verify the validity, reliability, and specificity of disease markers for identifying at-risk persons, preventing or delaying onset of illnesses, detecting and diagnosing disease, monitoring the development and progression of disease, managing symptoms, establishing effective interventions, and ensuring the patient's adherence to treatment. • Disease mechanisms. Conduct behavioral research in conjunction with basic research studies to clarify the cause and pathophysiologic features of chronic, genetically based illnesses. • Predictive models. Develop longitudinal, multifactorial prototypes based on genetic, biologic, psychosocial, and environmental markers to predict the development of disease. Apply these 218
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models in the development of prevention and risk reduction strategies for different populations and groups. Holistic approaches. Develop effective nursing interventions that adopt a "whole-person" (holistic) strategy along a continuum of care (e.g., from counseling to symptom management and rehabilitation) for patients with genetic conditions and a genetic predisposition to diseases. Patients' decision-making processes. Design and test specific nursing interventions (e.g., counseling and contracting) for assisting persons in assessing their risk reduction, satisfaction, and quality of life in relation to decisions made before and after genetic testing. Risk-reduction behaviors. Describe patients' reasoning to practice new behaviors that prevent or delay the onset of predisposed disease processes, identify and reinforce appropriate risk-reduction behaviors, and develop strategies for persons who do not modify their behaviors. Patients' learning styles. Determine the factors necessary for patients to comprehend genetic information and, on the basis of this information, to change health practices, particularly for patients with chronic conditions such as obesity, asthma, and cardiovascular disease. Coping behaviors. Describe attitudes and behaviors that place people at risk for developing genetic disease. Design and develop clinical interventions for helping persons obtain genetic information and to change attitudes that place them at risk for acquiring genetic disease. Communication styles. Identify cues associated with grief and grieving and use this knowledge to design and test interventions for helping families understand and live with genetic conditions or diseases. Perceived risk. Assess outcome measures for individuals and families concerned with the possibility of developing a genetic condition, including appropriate screening. Assess client understanding of the probability of developing genetic diseases when teaching and counseling about risks for genetic conditions.
* Fear and social stigma. Identify physiologic and psychologic sequelae for individuals and families with genetic disease in relation to apprehensions about becoming ill and concerns of isolation from family and friends. • Special population groups. Determine effective intervention approaches (e.g., for symptom management) and the optimal times for intervening with children diagnosed with a fatal disease, adolescents diagnosed with a lifestylecompromising disease, elders needing to make end-of-life decisions, and persons with special care needs. • Delivery of care. Develop and test new strategies for improving and coordinating clinical practice by health practitioners for populations and patients with a genetic illness. • Information strategies. Design and implement effective methods for conveying knowledge about genetic conditions and genetic testing to aggregate groups (communities, populations). • Ethical issues. Identify and address ethical issues in product development, marketing, qualitative research, price structures, and access. NINR has published a program announcement highlighting these research directions, "Opportunities in Genetics and Nursing Research," PA-97-047. T R A I N I N G A N D CAREER D E V E L O P M E N T OPPORTUNITIES Two general approaches exist for developing a cadre of researchers trained in both nursing and genetics: providing additional basic science education for nurse scientists, and attracting basic scientists into nursing research. Basic science preparation for nurse scientists can be fostered specificallythrough sequential predoctoral and postdoctoral research training, supplemental awards to existing research training grants, postdoctoral and mid-career research training, and faculty research training through continuing education and/or summer programs. A combined predoctoral and postdoctoral research training program can include basic genetics research with predoctoral nursing sciences. Workgroup participants supported predoctoral and postdoctoral research training in genetics research for nurse scientists and similar reciprocal research training for predoctoral and postdoctoral fellows in molecular biology and genetics who would be mentors for
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nurse scientists during their research training. NINR has published a program announcement for postdoctoral and senior fellowship training, "Linking Nursing and Genetic Research-Individual Postdoctoral and Senior Fellowships," PA-97-039. Mid-career research and career development training should be emphasizedfor newly independent (junior) and senior nurse researchers to enable them to be knowledgeable about current genetic technology. Such research training could be supported by curricula available through professional groups, traditional NIH research training and career development mechanisms, continuing education, or intensive summer programs. Workgroup participants supported incorporation of a combination of basic science content and clinical approaches (e.g., genetic testing and counseling) into these research training programs. Besides formal education for nurse researchers, clinical settings and nursing organizations need to reach out to nurses and other health care providers to provide opportunities for learning about genetics. Participants reinforced the urgency of the need for a basic genetic curriculum for nurses working in the current health care system, particularly as genetic knowledge is exploding into the daily lives of patients through lay magazines, radio, television, and newspapers.
CONCLUSION Genetic research can be a major force for stimulating interdisciplinary collaboration among nurse researchers because it is related to all areas of nursing science. As a relatively new area of study for nurse researchers, genetics also offers nurse scientists a special opportunity to initiate multidisciplinary efforts to develop important contributions to nursing and genetics research. The workgroup participants encouraged nurse scientists to stimulate genetics research by organizing cooperative relationships with researchers in other disciplines, "piggybacking" nursing research components onto existing or new studies, and/or sharing expertise on various aspects of genetics research at scientific gatherings. Nurse researchers can take leadership roles and contribute to basic genetic studies with their biologic, environmental, and behavioral linkages; the genetic determination of physiologic responses; and applied studies aimed at translating basic science findings into health care management and delivery. Nurse researchers are especially well positioned for fostering the necessary connection between basic and applied studies through the development and implementation of improved strategies for preventing and managing genetic disease.
The multidisciplinary collaboration of basic and clinical scientists involved in genetics research is especially important to address biobehavioral issues. The genetics workgroup recommended strategies for promoting such interactions, including collaborative seminars and workgroups in academia, c o n v e n i n g muhidisciplinary conferences, creating "learning communities" of genetics researchers within universities, and seeking participation on genetics-related NIH projects. The development of a cadre of nurse scientists trained in genetics research is the key link to translating research findings from biobehavioral research into clinical practice. Successful entry of nurse scientists into genetics research will further reinforce the benefits of multidisciplinary research training. •
HILARY D. SIGMON is Scientific Program Administrator at the National Institute of Nursing Research, National Institutes of Health. PATRICIA A. GRADY is Director of the National Institute of Nursing Research, National Institutes of Health. LYNN M. AMENDE is Director of the Division of Extramural Activities, National Institutes of Health.
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