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Families and genetics: Bridging the gap between knowledge and practice
RESEARCH/EDUCATION
Abstract The Human Genome Project (HGP) and news of genetic breakthroughs are pervasive to most of our lives today. Yet how many of us have had formal education in genetics? When and how do we integrate this knowledge into our clinical practice? This article discusses the relevance of genetics to newborn and infant nursing practice and how new genetic knowledge affects patients and their families. Approaches to educating clinicians about genetics within the context of the family are described, as newborn and infant nurses emphasize the family in their daily work and frequently work with children and families with genetic diagnoses. Education and research from the University of Illinois at Chicago College of Nursing are used as examples to describe the integration of genetics into the practice of nurses caring for newborns, infants, and their families. Copyright 2002, Elsevier Science (USA). All rights reserved.
From the University of Chicago, Chicago, IL. Address reprint requests to Randy Spreen Parker, PhD, RN, C, FCCG Project Director, University of Illinois at Chicago, 845 S Damen, Rm 522, Chicago, IL 60612. E-mail: [email protected] Copyright 2002, Elsevier Science (USA). All rights reserved. 1527-3369/02/0204-0009$35.00/0 doi: 10.1053/nbin.2002.35892
Families and Genetics: Bridging the Gap Between Knowledge and Practice By Suzanne Feetham, PhD, RN, FAAN, Michael Knisley, BA, Randy Spreen Parker, PhD, RN, Agatha Gallo, PhD, RN, CPNP, and Carole Kenner, DNS, RNC, FAAN
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ver the past decade, the Human Genome Project (HGP) has gained public attention. It appears almost daily either in televised or print media. The HGP’s major goal is to map and sequence the 30,000 to 40,000 genes in the human genome and provide detailed information about the structure, organization, and characteristics of human DNA.1– 6 Who would have imagined the possibility of identifying specific genes involved in cystic fibrosis or sickle cell anemia and then being able to repair the defective gene? Over the next decades, many expect to be able to use gene therapy to treat childhood conditions that today are life-threatening or fatal. The burgeoning knowledge from the HGP and other genomic research has made it possible to identify individuals and families at risk for disease and to diagnose and treat disease in ways that, until recently, were not possible. We now understand that genes play a role in all health conditions. In newborn and infant nursing, our attention has been on single gene or chromosome disorders and their resulting complex expression. The HGP and other related genetic research are identifying the role of genes in health and illness and the interdependence of genes and the environment. This work reinforces that most conditions are polygenic (involving multiple genes) and multifactorial (involving genes and other nongenetic factors). The identification of specific genes will allow the prevention of disease and promotion of health by the calculation of risk and application of health promotion and disease prevention interventions. Yet, for most of us in health care, it remains an ongoing challenge to apply knowledge of genetic breakthroughs in our practice. Few health care providers (HCPs) have had formal education in genetics and genomics. How do we make up this deficit? The purposes of this article are to discuss the implications of genetic discoveries for the clinical training and continuing education of nurses, physicians, and other HCPs and to demonstrate the centrality of family to training and clinical integration of genetic knowledge. Two federally funded Newborn and Infant Nursing Reviews, Vol 2, No 4 (December), 2002: pp 247–253
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projects led by nurses will be used as exemplars to illustrate how to bridge the gap between genetic knowledge and health care practices.
Genetic Knowledge and Health Care Providers
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ey policy leaders in education and research state that genetics is a central science of medicine and health care. Most health care consumers believe that their health care providers are able to inform them if they are at risk for developing a genetic disease and can interpret the results of genetic tests.7–9 However, surveys indicate that HCPs do not share their patients’ confidence but instead feel that they are not prepared to meet these consumer expectations.10 –12 There are 11 million HCPs with more than 200 professional titles, not to mention the thousands of HCP students who require genetics education. HCPs report that they are inadequately prepared to provide basic genetic education, counsel patients and their families, recommend appropriate application of genetic tests, or interpret their risks of developing or transmitting a given condition.13–16 A large percentage of health care providers report difficulty integrating genetic knowledge into their practice.10 –13 Currently, there is an insufficient number of HCPs with advanced training in genetics to meet the demand for clinical genetic services.7,12,17–26 Consequently, many HCPs report that they do provide genetic services7,16,22 without obtaining genetics consultation from clinical geneticists or genetic counselors.23,24 The evidence is clear that competent application of genetic knowledge is an essential and desired skill for all HCPs.1 Genetic knowledge encompasses 3 areas of skills and competencies. First, the genetic principles of inheritance, genetic risk, and genetic expression must be mastered by HCPs to interpret the rapid accumulation of genetic discoveries. Second, HCPs need to be well versed in the new genetics, our new knowledge regarding gene function and how it informs our understanding of the mechanisms, diagnosis, treatment, and prevention of disease. Third, HCPs must be aware of the social, ethical, family, legal, financial, and family implications that arise from the increasingly rapid introduction of genetic technologies.6 As genetic discoveries are assimilated into health care, it has become evident that there is a genetic component to all disease, which results from altered gene function via the interaction of multiple genes and environmental factors (eg, cardiovascular disease, cancer). Understanding the new principles of genetics is necessary to effectively apply the scientific advances of genetics and provide patients with quality health care.2,3,18,27–30 Often, genetic discoveries precede the technological advances and policy formulation needed to assure benefi-
cial clinical applications. Media reports may cause heightened anticipation of immediate treatment or cure rapidly following a genetic discovery.2,4,10 However, certainty may occur as a result of the lag time between public announcements of gene discovery and the availability of effective new therapies. This time lag creates an interim phase during which the consequences—from the individual to the societal level—are potentially deleterious.4,6 For example, premature implementation of genetic screening for a disease which does not have any prevention or treatment strategies will cause unnecessary stress for individuals and families who are identified as “at risk.” This interim phase, however, provides a window of opportunity to develop an educational, ethical, clinical, and policy infrastructure, whereby individuals, families, and society can gain the greatest benefit from the HGP with a minimal amount of undue adverse outcomes.
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critical component of an effective genetics infrastructure is an understanding of the psychosocial effects of genetic information on family systems. Family function, structure, rules, and beliefs significantly impact the health and illness of individual family members.6,31,32 The entire family affects the interpretation of and response to health information, including genetic information, by individual members and the family as a whole. Recent research provides further evidence that family interaction has a significant influence on an individual’s response to genetic risk information33 and that the family environment influences health and risk behaviors of individual family members.34 –36 By the year 2010, predictive genetic testing for susceptibility of approximately 20 common conditions such as diabetes and hypertension may be available.1,11 Genetic testing for susceptibility in developing cancer and other common conditions results in a new phase in health and illness—the presymptomatic phase.37 Family members may learn that although they are currently well, they will not remain well as long as the average person. Rolland38 states that families will need to accept the permanency of genetic knowledge and develop family flexibility in the face of this prolonged uncertainty. To ensure the best health outcomes for individuals and their families, health care providers will need to integrate the research of genetics, family, and health promotion and risk reduction into practice.* The paucity of attention to family systems and family relationships in the collection and dissemination of genetic *Health promotion includes risk reduction; however, risk reduction is used more frequently when referring to genetic-related issues.
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information places family members at increased risk for altered relationships.6 Since ambiguity, fear, anxiety, and self-doubt can be of concern to individuals and families who have to make decisions about genetic issues, health providers need to anticipate psychological and social effects of genetic information, as well as understand the scientific basis of genetic risk. For example, family “rules” regarding disclosure of health information need to be identified, as many families may not disclose a history of diseases, such as mental illness or cancer. The widespread use of the Internet allows families to access various monitored and unmonitored web sites to obtain information on genetic conditions. Based on this information, families may form questions and opinions about genetic conditions.39 The complexity of interpreting genetic information for families requires integration of biological genetic information with knowledge of family functioning, roles, rules, and needs.6 Competence in explaining genetics information to families at each step of the process is essential to good health care.
Nursing Research in Genetics
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ursing has long appreciated the importance of viewing individuals within a family context and tailoring care in a holistic fashion. As a result, nurses and nursing are ideally suited to address the impact of genetics on individuals and their families.40 Two projects are in process at the University of Illinois at Chicago College of Nursing (UICCON) that serve as exemplars of the need to integrate genetic knowledge into nursing practice, specifically in the context of families. They are: 1) a research project, Parents’ Interpretation and Use of Genetic Information/Family Information Management Styles Project (FIMS) (Grant #R01HG02036), in families who have a child with a genetic condition; and 2) an education project, The Family Context in Clinical Genetics Project (FCCGP) (Grant #1 R25 HG002259-01). The following overview of each project highlights the central role of nursing leadership in contributing to the growing body of knowledge concerning families and clinical genetics. Parents’ Interpretation and Use of Genetic Information/Family Information Management Styles Project Genetics and Information Management. To date, much of genetic research has focused on molecular genetics and the development of the technology necessary to draft a map of the human genome sequence. This research has resulted in a better understanding of genetic risk and the mechanisms of disease. However, in most studies, there
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has been a lack of attention to the impact of genetic knowledge on the family unit. This limited focus on the family is a result of the trajectory of discovery through which we have seen genetic research progress. Genetic research has proceeded through 3 phases. First was the biological research, looking for specific genes and disease mechanisms. This has been followed by behavioral research that examines anticipated negative outcomes that the individual or society may incur in response to genetic testing. Finally, research is beginning to move from focusing on individuals to the impact of genetic knowledge on families. An example would be the complex issues associated with how individuals and families manage genetic information and how they make decisions (eg, genetic testing for carrier status). For these families, issues may include uncertainty, ambiguity, and stress resulting from genetic information; lag time between genetic discovery and available treatments; and fears related to loss of privacy, stigma, and possible discrimination against obtaining employment, insurance, or school admission.2,6,41– 45 In the midst of these issues, individuals and families continue to make decisions concerning their reproductive future and changes in lifestyles and behaviors and to make decisions regarding treatment and/or prevention. For example, a family who has 1 child with a trisomy may not consent to genetic testing because they are fearful of the results and, thus, not choose to risk future pregnancies. In families where there is a child with a known genetic condition, parents make decisions about how to convey and manage genetic information to their family and others.46 The term information management is a complex process that entails the interplay of beliefs and behaviors related to accessing and interpreting information (ie, health-related genetics information), as well as making decisions and taking action based on the information acquired. While it is assumed that family rules, boundaries, history, culture, personal beliefs, and values all contribute to decision making, relatively little is known about family members’ beliefs regarding information acquisition and the use or strategies they develop to manage information.47 An individual’s response to a genetic condition is influenced by family members and their HCP, as well as their own beliefs about the cause, treatment, and prognosis of the disease.33,41 While not addressing genetic information specifically, a number of studies have identified information exchange as a critical component of a positive or productive working relationship between parents and HCPs.48 Some studies suggest that family members move from a passive role— assuming that HCPs will share critical information—to an active role, accessing information that they identify as critical.47 Parents want accurate and complete information
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about the child’s condition and treatment in understandable terms.48 Parents also need the opportunity to ask questions, to clarify and elicit additional information, and to determine when their child should be included in the interaction. The assumption that individuals and families make the best possible choices by integrating their beliefs with new scientific knowledge about genetics is the basis for informed decision making in clinical genetics.41 However, little is known about the interplay between personal beliefs and the acquisition and use of genetic information. Little attention has been given to how families respond to and manage genetic information gleaned from the HGP.42 To meet a family’s informational needs and to work effectively with them to interpret and use information, it is necessary for HCPs to understand a family’s views and behaviors as they relate to information management. The study is being conducted by nurse researchers at the University of Illinois at Chicago to explore the interplay of beliefs and behaviors to identify information management styles used by families who have a child with a genetic condition. The study includes families of school-aged children or early adolescents with a genetic condition, such as cystic fibrosis, sickle cell disease, phenylketonuria (PKU), and hemophilia. Parents are being invited to participate in a tape-recorded, semistructured interview and complete structured instruments measuring life satisfaction, family functioning, their child’s functional status, and information on self and the family. The study is expected to identify major themes and patterns (styles) of family information management.49 HCPs are also participating in a semistructured interview about their role in information management. The study will add to our knowledge of how families obtain and use genetic information and enable nurses to act as better advocates for children and their families. Family as Context in Clinical Genetics Project As stated previously, large gaps exist between what HCPs are increasingly expected to know concerning genetics and what they are being taught during their training or continuing education. The FCCG project addresses the gaps and deficiencies in contemporary genetics education by developing a current and easily accessible genetics curriculum for HCPs and students in the health professions. Challenges of Genetics Education. Several factors interfere with the integration of genetic content and the underlying concepts of biology and gene function into clinical practice, school curricula, and continuing education programs. In addition to the slow recognition on the part of HCPs and students of the significance of new
genetic knowledge, there is the lack of accessible, adult, learner-friendly environments to provide educational services. The challenge today is to develop programs that will help HCPs update their clinical knowledge in ways that are educationally appropriate, as well as affordable and readily available. For HCPs, traditional methods of continuing education are often difficult to access, can provide outdated information, are costly, and may require travel to distant sites, resulting in time away from the practice. Teaching content that is only theoretical in nature or outdated is overlooked by HCPs, since it is not relevant or easily applicable to current clinical practice. Therefore, many believe that clinical application with case scenarios that promote critical thinking enhance the education and clinical integration processes. Use of web-enhanced or web-based learning adds a dimension of interactivity with the learner. It also allows for frequent update of information through the use of links to other Internet sites. A number of web-based genetics courses exist; however, they tend to focus on enhancing the genetic knowledge of traditional Mendelian genetics, with some emphasis on the molecular biology underpinnings. These courses also tend to be diseasespecific or limited to a single topic and often vary in content, availability, and faculty expertise. Web-based materials that are not integrated into a structural framework have limited educational value.50 The primary purpose of the FCCGP curriculum differs from other web-based courses, because it aims to teach HCPs how to integrate new genetic discoveries into practice and provide information on the effects of the HGP on individuals and their families and how to provide care within a family context. The FCCGP is an interdisciplinary endeavor that joins 2 schools of nursing (University of Illinois at Chicago [UIC] and the Johns Hopkins University [JHU]) and 2 schools of medicine (UIC and University of Chicago) to develop and test a competency-based online curriculum. Core competencies developed by the National Coalition of Health Professional Education in Genetics (NCHPEG; www.nchpeg.org) guide curriculum development, implementation, and the evaluation of learner’s knowledge, skills, and attitudes. The project aim is to train practicing nurses and physicians, as well as current students, to integrate genetic principles into their clinical practices, while using concepts of family functioning as the basis for interactions with patients and their families. A clinical integration model (CIM) serves as the framework for curriculum development. The model features gene function as central to clinical knowledge and links the health status of individuals to gene function, the family, and to the larger environment (Fig 1). The core genetic principle underlying the curriculum is that of gene function, which includes all other basic mo-
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Genetic Issue in Newborns and Infants
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Fig 1. Clinical integration model. Family as context in Clinical Genetics Project (Grant #1 R25 HG002259-01).
lecular biological principles of genetics. Understanding that genes code for the proteins that perform almost every function of the human body is a central concept of the curriculum and is represented in the center of the model. One cannot get to the core of this model without going through the remaining basic principles. The remaining principles are environment, family, and clinical manifestations (individual expression). The environment includes our physical environment, as well as the social environment in which we live, work, and provide clinical care. Each is impacted by gene function and each impacts gene function. Most, if not all, disease processes are related to a disruption in the normal functioning of genes and/or their products (proteins, enzymes). The interplay with the environment determines how these genetic disruptions will affect health, physical appearance, and longevity. In addition to being the transmitter of genes between generations, the family is the mediator and interpreter of the genes and of the physical, social, and cultural environment in which an individual develops. The environment, in turn, can alter the gene function of the individual. Any deviations from normal gene function can be related to the individual’s gene interactions, the biological family, or interactions with the environment. What often results is the clinical manifestation of disease. The CIM is a visual representation that is consistent with the principles of the genetics and positions the family as the context for the proper management of clinical conditions.
ostnatal screening for inherited disorders, such as PKU, sickle cell disease, cystic fibrosis (CF), maple syrup urine disease, homocystinuria, and galactosemia, are current genetic conditions being evaluated in the neonatal period. However, with the increasing prevalence of prenatal and postnatal testing for conditions that do not manifest themselves in the neonatal period, such issues and concerns are sources of questions for parents of newborns and infants. Thus, it is imperative that newborn and infant nurses be familiar with the impact of genetic testing on parents. Although genetic testing may not actually be performed during the newborn period, it is a time when parents may have many questions and concerns about the health of their newborn. Furthermore, screening for autosomal recessive conditions, such as is currently performed in the newborn period, raises new issues for families with no known history of these diseases. For instance, a couple who has a child that is diagnosed with PKU may have questions about screening older, healthy children to find out if they are carriers. Carrier testing may encourage greater openness within families and enable family members to make informed plans for education, employment, insurance, and relationships.51–53 Clinicians who are knowledgeable about risks and benefits of genetic testing are better equipped to provide family members with the information necessary to determine whether genetic testing is appropriate.52,53 One area that has witnessed an explosion of genetic information is cystic fibrosis. To date, over 800 mutations of the CF gene have been identified, leading to greater ambiguity and uncertainty for many affected individuals and families.54 With media coverage of these genetic breakthroughs, some parents may believe that CF is curable. They hear news reports of gene therapy/transfer aimed at fixing the defective CF gene or altering the molecular/cellular processes that are disrupted which lead to the clinical manifestations of CF. What is not reported is the limited progress made on successfully replacing or repairing this gene. To the public, CF is a life-threatening disease that exemplifies all genetic diseases and the possibility of treatment or prevention of these diseases through prenatal testing and screening and repair of the gene. Less emphasized in the media is the fact that it may be decades before we are able to effectively treat most of the childhood genetic diseases. Therefore, health professionals must have basic knowledge of genetics and the current status of clinical applications of new genetic technologies to effectively teach, support, and advocate for children and their families. Newborn and infant nurses have always been exceed-
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ingly good about building a rapport with families. We need to capitalize on this relationship to educate our families about genetics and how testing and screening can prevent some diseases or improve the quality of life for others. These and other issues need to be explored further in this population and in parents and families across a broader range of genetic conditions. While new genetic knowledge holds great promise for health care, the acquisition of genetic knowledge has inherent risks and benefits and has created new dilemmas for families who need to make decisions for a child with a genetic disorder. Not only are parents expected to master new and sophisticated health information,55 they are called on to make critical judgments regarding how and to whom the information will be conveyed, when to seek or provide additional information, and how to use the information for subsequent decisions. Many times, family members do not correctly remember the genetic information they receive nor do they have an opportunity to explore its meaning and family implications with HCPs.46 Studies suggest that some adults have difficulty understanding probability and interpreting risk estimates.46,56 For instance, a report on adult siblings of individuals with cystic fibrosis indicated that 30% of siblings believed that carrier status implied health difficulties.57 Hence, information is essential to parents’ ability to understand genetic risk, to transmit accurate facts to others, and to help their child and other family members adapt to the condition.57 HCPs are an important source of this information, making it imperative that we all work to become and remain up-to-date with genetic knowledge.
Conclusion
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ur knowledge of genetics is growing and evolving each day. It is pervasive in our private and professional lives. The proliferation of genetic discoveries has unique implications for families. These include the high public visibility of the discoveries with an expectation for cure, the presence of a presymptomatic phase following positive genetic testing, the varying needs of family members to know the genetic information, the need for multiple family members to be included in genetic studies over time, and the risks of discrimination and loss of privacy. The complexity of the effects of new genetic knowledge on families requires all HCPs to be able to integrate knowledge of genetics, its clinical applications, and family functioning in their practice. The application of genetics to health care challenges HCPs to reframe their thinking about disease mechanisms; the prevention and treatment of disease; and the family, ethical, legal, and social implications of genetic discover-
ies. Sound genetic education includes introducing genetic concepts and implications for families early in formal education and providing ongoing education for geneticsbased care. We must not only educate future generations of practitioners and scientists in ways that encourage clinical integration of this new knowledge, but we must also bring the existing cadre of practitioners up-to-date and provide mechanisms to keep them current with advances. As newborn and infant nurses, we care for infants and children within the context of the family. The family unit is essential to what we do. We have advocated for years that families are partners in care and they are not visitors in our institutions. Does it not then seem reasonable that we make up our educational deficits in genetics so that we can assist these families? We have presented a brief overview of genetics, the genetics revolution, the complexity of the family unit, and the educational deficits that health professionals have in relationship to genetic knowledge. We have presented 2 projects that have research and educational components to them. It is our belief that more educational programs need to be available to help HCPs keep up-to-date with the human genome research and its implications for health. For this knowledge to change practice, it has to be relevant and applicable to clinical practice. We believe that when equipped with up-to-date and adaptable genetic knowledge, newborn and infant nurses can help shape the future health of generations to come. Using the family context allows us to do what we do best—look from a holistic view and not reduce the child to a disease. We believe in putting the child and family first and integrating the genetic knowledge within this context. The family guides our practice, so why not use it as a guide to our educational process as well?
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on psychological distress one to two weeks after BRCA1 mutation testing. Cancer Epidemiol Biomarkers Prev 8:385–392, 1999 34. Kinney AY, Croyle RT, Dudley WN, et al: Knowledge, attitudes, and interest in breast-ovarian cancer gene testing: A survey of a large African-American kindred with a BRCA1 mutation. Prev Med 33:543– 551, 2001 35. Williams JK, Schutte D: Genetic testing and mental health: The model of Huntington disease. Online J Issues Nurs 5(3):3, 2000 36. Washington State Department of Health, March of Diems Birth Defects Foundation, Swedish Medical Center: Genetics and Your Practice (ed 3). Seattle, WA, Washington State Department of Health, March of Dimes Birth Defects Foundation, Swedish Medical Center, 1998 37. Street E, Soldan J: A conceptual framework for psychosocial issues faced by families with genetic conditions. Fam Syst Health 16: 217–232, 1998 38. Rolland JS: Commentary-Families and genetic fate: A millennial challenge. Fam Syst Health 17(1):123, 1999 39. Cahn M: Linking public health professionals with human genetics information. Abstracts from the 1st Annual Conference on Genetics and Public Health, 1998 [online]. Accessed April 2002. Available at: www.cdc.gov/genetics/publications/abstracts.htm 40. Feetham SL: The new genetics: Opportunities for nursing research and leadership. Res Nurs Health 23(4):257–259, 2000 41. Anderson G: Storytelling: A holistic foundation for genetic nursing. Holist Nurs Pract 12(3):64 –76, 1998 42. Chapple A, May C, Campion P: Predictive and carrier testing of children: Professional dilemmas for clinical geneticists. Eur J Genet Soc 2(2):28 –38, 1996 43. Ablon J: Parents’ responses to their child’s diagnosis of nuerofibromatosis 1. Am J Med Genet 93(2):136 –142, 2000 44. Atkins K, Ahmad WI, Anionwu EN: Screening and counseling for sickle cell disorders and thalassaemia: The experience of parents and health professionals. Soc Sci Med 47:1639 –1651, 1998 45. Hanson JW, Thomson EJ: Genetic testing in children: Ethical and social points to consider. Pediatr Ann 29(5):285–291, 2000 46. Williams JK, Schutte DL, Evers C, et al: Redefintion: Coping with normal results from predictive gene testing for neurodegenerative disorders. Res Nurs Health 23(4):260 –269 47. Gallo A, Knafl K, Feetham S, et al: Parents’ interpretation and use of genetic information. ELSI Branch NHGRI funded. Grant #R01HG02036, 2002 48. Gilliss CL, Knafl KA: Nursing care of families in non-normative transitions: The state of science and practice, in Hinshaw A, Feetham S, Shaver JLF (eds): Handbook of Clinical Nursing Research. Newbury Park, CA, Sage, 1999, pp 231–249 49. Knafl K, Breitmayer B, Gallo A, et al: Family response to childhood chronic illness: Description of management styles. J Pediatr Nurs 11(5):315–326, 1996 50. Berry E, Parker-Jones C, Jones RG, et al: Systematic assessment of world wide web materials for medical education. J Am Med Inform Assoc 5(4):382–389, 1998 51. Lessick M, Faux S: Implications of genetic testing of children and adolescents. Holist Nurs Pract 12(3):38 – 46, 1998 52. Lloyd-Puryear MA, Forsman I: Newborn screening and genetic testing. J Obstet Gynecol Neonatal Nurs 31(2):200 –207, 2002 53. Lewis JA: Genetics in perinatal nursing: Clinical applications and policy considerations. J Obstet Gynecol Neonatal Nurs 31(2):188 – 192, 2002 54. Lebecque P, Leal T, De Boeck C, et al: Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children. Am J Respir Crit Care Med 165:757–761, 2002 55. Shepherd M, Hattersley AT, Sparkes AC: Predictive genetic testing in diabetes: A case study of multiple perspectives. Qual Health Res 10(2):242–259, 2000 56. Grimes DA, Snively GR: Patients’ understanding of medical risks: Implications for genetic counseling. Obstet Gynecol 93:910 –914, 1999 57. Fanos JH, Johnson JP: Barriers to carrier testing for adult cystic fibrosis sibs: The importance of not knowing. Am J Med Genet 59(1): 85–91, 1995
Abstract The Human Genome Project (HGP) and news of genetic breakthroughs are pervasive to most of our lives today. Yet how many of us have had formal education in genetics? When and how do we integrate this knowledge into our clinical practice? This article discusses the relevance of genetics to newborn and infant nursing practice and how new genetic knowledge affects patients and their families. Approaches to educating clinicians about genetics within the context of the family are described, as newborn and infant nurses emphasize the family in their daily work and frequently work with children and families with genetic diagnoses. Education and research from the University of Illinois at Chicago College of Nursing are used as examples to describe the integration of genetics into the practice of nurses caring for newborns, infants, and their families. Copyright 2002, Elsevier Science (USA). All rights reserved.
From the University of Chicago, Chicago, IL. Address reprint requests to Randy Spreen Parker, PhD, RN, C, FCCG Project Director, University of Illinois at Chicago, 845 S Damen, Rm 522, Chicago, IL 60612. E-mail: [email protected] Copyright 2002, Elsevier Science (USA). All rights reserved. 1527-3369/02/0204-0009$35.00/0 doi: 10.1053/nbin.2002.35892
Families and Genetics: Bridging the Gap Between Knowledge and Practice By Suzanne Feetham, PhD, RN, FAAN, Michael Knisley, BA, Randy Spreen Parker, PhD, RN, Agatha Gallo, PhD, RN, CPNP, and Carole Kenner, DNS, RNC, FAAN
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ver the past decade, the Human Genome Project (HGP) has gained public attention. It appears almost daily either in televised or print media. The HGP’s major goal is to map and sequence the 30,000 to 40,000 genes in the human genome and provide detailed information about the structure, organization, and characteristics of human DNA.1– 6 Who would have imagined the possibility of identifying specific genes involved in cystic fibrosis or sickle cell anemia and then being able to repair the defective gene? Over the next decades, many expect to be able to use gene therapy to treat childhood conditions that today are life-threatening or fatal. The burgeoning knowledge from the HGP and other genomic research has made it possible to identify individuals and families at risk for disease and to diagnose and treat disease in ways that, until recently, were not possible. We now understand that genes play a role in all health conditions. In newborn and infant nursing, our attention has been on single gene or chromosome disorders and their resulting complex expression. The HGP and other related genetic research are identifying the role of genes in health and illness and the interdependence of genes and the environment. This work reinforces that most conditions are polygenic (involving multiple genes) and multifactorial (involving genes and other nongenetic factors). The identification of specific genes will allow the prevention of disease and promotion of health by the calculation of risk and application of health promotion and disease prevention interventions. Yet, for most of us in health care, it remains an ongoing challenge to apply knowledge of genetic breakthroughs in our practice. Few health care providers (HCPs) have had formal education in genetics and genomics. How do we make up this deficit? The purposes of this article are to discuss the implications of genetic discoveries for the clinical training and continuing education of nurses, physicians, and other HCPs and to demonstrate the centrality of family to training and clinical integration of genetic knowledge. Two federally funded Newborn and Infant Nursing Reviews, Vol 2, No 4 (December), 2002: pp 247–253
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projects led by nurses will be used as exemplars to illustrate how to bridge the gap between genetic knowledge and health care practices.
Genetic Knowledge and Health Care Providers
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ey policy leaders in education and research state that genetics is a central science of medicine and health care. Most health care consumers believe that their health care providers are able to inform them if they are at risk for developing a genetic disease and can interpret the results of genetic tests.7–9 However, surveys indicate that HCPs do not share their patients’ confidence but instead feel that they are not prepared to meet these consumer expectations.10 –12 There are 11 million HCPs with more than 200 professional titles, not to mention the thousands of HCP students who require genetics education. HCPs report that they are inadequately prepared to provide basic genetic education, counsel patients and their families, recommend appropriate application of genetic tests, or interpret their risks of developing or transmitting a given condition.13–16 A large percentage of health care providers report difficulty integrating genetic knowledge into their practice.10 –13 Currently, there is an insufficient number of HCPs with advanced training in genetics to meet the demand for clinical genetic services.7,12,17–26 Consequently, many HCPs report that they do provide genetic services7,16,22 without obtaining genetics consultation from clinical geneticists or genetic counselors.23,24 The evidence is clear that competent application of genetic knowledge is an essential and desired skill for all HCPs.1 Genetic knowledge encompasses 3 areas of skills and competencies. First, the genetic principles of inheritance, genetic risk, and genetic expression must be mastered by HCPs to interpret the rapid accumulation of genetic discoveries. Second, HCPs need to be well versed in the new genetics, our new knowledge regarding gene function and how it informs our understanding of the mechanisms, diagnosis, treatment, and prevention of disease. Third, HCPs must be aware of the social, ethical, family, legal, financial, and family implications that arise from the increasingly rapid introduction of genetic technologies.6 As genetic discoveries are assimilated into health care, it has become evident that there is a genetic component to all disease, which results from altered gene function via the interaction of multiple genes and environmental factors (eg, cardiovascular disease, cancer). Understanding the new principles of genetics is necessary to effectively apply the scientific advances of genetics and provide patients with quality health care.2,3,18,27–30 Often, genetic discoveries precede the technological advances and policy formulation needed to assure benefi-
cial clinical applications. Media reports may cause heightened anticipation of immediate treatment or cure rapidly following a genetic discovery.2,4,10 However, certainty may occur as a result of the lag time between public announcements of gene discovery and the availability of effective new therapies. This time lag creates an interim phase during which the consequences—from the individual to the societal level—are potentially deleterious.4,6 For example, premature implementation of genetic screening for a disease which does not have any prevention or treatment strategies will cause unnecessary stress for individuals and families who are identified as “at risk.” This interim phase, however, provides a window of opportunity to develop an educational, ethical, clinical, and policy infrastructure, whereby individuals, families, and society can gain the greatest benefit from the HGP with a minimal amount of undue adverse outcomes.
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critical component of an effective genetics infrastructure is an understanding of the psychosocial effects of genetic information on family systems. Family function, structure, rules, and beliefs significantly impact the health and illness of individual family members.6,31,32 The entire family affects the interpretation of and response to health information, including genetic information, by individual members and the family as a whole. Recent research provides further evidence that family interaction has a significant influence on an individual’s response to genetic risk information33 and that the family environment influences health and risk behaviors of individual family members.34 –36 By the year 2010, predictive genetic testing for susceptibility of approximately 20 common conditions such as diabetes and hypertension may be available.1,11 Genetic testing for susceptibility in developing cancer and other common conditions results in a new phase in health and illness—the presymptomatic phase.37 Family members may learn that although they are currently well, they will not remain well as long as the average person. Rolland38 states that families will need to accept the permanency of genetic knowledge and develop family flexibility in the face of this prolonged uncertainty. To ensure the best health outcomes for individuals and their families, health care providers will need to integrate the research of genetics, family, and health promotion and risk reduction into practice.* The paucity of attention to family systems and family relationships in the collection and dissemination of genetic *Health promotion includes risk reduction; however, risk reduction is used more frequently when referring to genetic-related issues.
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information places family members at increased risk for altered relationships.6 Since ambiguity, fear, anxiety, and self-doubt can be of concern to individuals and families who have to make decisions about genetic issues, health providers need to anticipate psychological and social effects of genetic information, as well as understand the scientific basis of genetic risk. For example, family “rules” regarding disclosure of health information need to be identified, as many families may not disclose a history of diseases, such as mental illness or cancer. The widespread use of the Internet allows families to access various monitored and unmonitored web sites to obtain information on genetic conditions. Based on this information, families may form questions and opinions about genetic conditions.39 The complexity of interpreting genetic information for families requires integration of biological genetic information with knowledge of family functioning, roles, rules, and needs.6 Competence in explaining genetics information to families at each step of the process is essential to good health care.
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ursing has long appreciated the importance of viewing individuals within a family context and tailoring care in a holistic fashion. As a result, nurses and nursing are ideally suited to address the impact of genetics on individuals and their families.40 Two projects are in process at the University of Illinois at Chicago College of Nursing (UICCON) that serve as exemplars of the need to integrate genetic knowledge into nursing practice, specifically in the context of families. They are: 1) a research project, Parents’ Interpretation and Use of Genetic Information/Family Information Management Styles Project (FIMS) (Grant #R01HG02036), in families who have a child with a genetic condition; and 2) an education project, The Family Context in Clinical Genetics Project (FCCGP) (Grant #1 R25 HG002259-01). The following overview of each project highlights the central role of nursing leadership in contributing to the growing body of knowledge concerning families and clinical genetics. Parents’ Interpretation and Use of Genetic Information/Family Information Management Styles Project Genetics and Information Management. To date, much of genetic research has focused on molecular genetics and the development of the technology necessary to draft a map of the human genome sequence. This research has resulted in a better understanding of genetic risk and the mechanisms of disease. However, in most studies, there
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has been a lack of attention to the impact of genetic knowledge on the family unit. This limited focus on the family is a result of the trajectory of discovery through which we have seen genetic research progress. Genetic research has proceeded through 3 phases. First was the biological research, looking for specific genes and disease mechanisms. This has been followed by behavioral research that examines anticipated negative outcomes that the individual or society may incur in response to genetic testing. Finally, research is beginning to move from focusing on individuals to the impact of genetic knowledge on families. An example would be the complex issues associated with how individuals and families manage genetic information and how they make decisions (eg, genetic testing for carrier status). For these families, issues may include uncertainty, ambiguity, and stress resulting from genetic information; lag time between genetic discovery and available treatments; and fears related to loss of privacy, stigma, and possible discrimination against obtaining employment, insurance, or school admission.2,6,41– 45 In the midst of these issues, individuals and families continue to make decisions concerning their reproductive future and changes in lifestyles and behaviors and to make decisions regarding treatment and/or prevention. For example, a family who has 1 child with a trisomy may not consent to genetic testing because they are fearful of the results and, thus, not choose to risk future pregnancies. In families where there is a child with a known genetic condition, parents make decisions about how to convey and manage genetic information to their family and others.46 The term information management is a complex process that entails the interplay of beliefs and behaviors related to accessing and interpreting information (ie, health-related genetics information), as well as making decisions and taking action based on the information acquired. While it is assumed that family rules, boundaries, history, culture, personal beliefs, and values all contribute to decision making, relatively little is known about family members’ beliefs regarding information acquisition and the use or strategies they develop to manage information.47 An individual’s response to a genetic condition is influenced by family members and their HCP, as well as their own beliefs about the cause, treatment, and prognosis of the disease.33,41 While not addressing genetic information specifically, a number of studies have identified information exchange as a critical component of a positive or productive working relationship between parents and HCPs.48 Some studies suggest that family members move from a passive role— assuming that HCPs will share critical information—to an active role, accessing information that they identify as critical.47 Parents want accurate and complete information
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about the child’s condition and treatment in understandable terms.48 Parents also need the opportunity to ask questions, to clarify and elicit additional information, and to determine when their child should be included in the interaction. The assumption that individuals and families make the best possible choices by integrating their beliefs with new scientific knowledge about genetics is the basis for informed decision making in clinical genetics.41 However, little is known about the interplay between personal beliefs and the acquisition and use of genetic information. Little attention has been given to how families respond to and manage genetic information gleaned from the HGP.42 To meet a family’s informational needs and to work effectively with them to interpret and use information, it is necessary for HCPs to understand a family’s views and behaviors as they relate to information management. The study is being conducted by nurse researchers at the University of Illinois at Chicago to explore the interplay of beliefs and behaviors to identify information management styles used by families who have a child with a genetic condition. The study includes families of school-aged children or early adolescents with a genetic condition, such as cystic fibrosis, sickle cell disease, phenylketonuria (PKU), and hemophilia. Parents are being invited to participate in a tape-recorded, semistructured interview and complete structured instruments measuring life satisfaction, family functioning, their child’s functional status, and information on self and the family. The study is expected to identify major themes and patterns (styles) of family information management.49 HCPs are also participating in a semistructured interview about their role in information management. The study will add to our knowledge of how families obtain and use genetic information and enable nurses to act as better advocates for children and their families. Family as Context in Clinical Genetics Project As stated previously, large gaps exist between what HCPs are increasingly expected to know concerning genetics and what they are being taught during their training or continuing education. The FCCG project addresses the gaps and deficiencies in contemporary genetics education by developing a current and easily accessible genetics curriculum for HCPs and students in the health professions. Challenges of Genetics Education. Several factors interfere with the integration of genetic content and the underlying concepts of biology and gene function into clinical practice, school curricula, and continuing education programs. In addition to the slow recognition on the part of HCPs and students of the significance of new
genetic knowledge, there is the lack of accessible, adult, learner-friendly environments to provide educational services. The challenge today is to develop programs that will help HCPs update their clinical knowledge in ways that are educationally appropriate, as well as affordable and readily available. For HCPs, traditional methods of continuing education are often difficult to access, can provide outdated information, are costly, and may require travel to distant sites, resulting in time away from the practice. Teaching content that is only theoretical in nature or outdated is overlooked by HCPs, since it is not relevant or easily applicable to current clinical practice. Therefore, many believe that clinical application with case scenarios that promote critical thinking enhance the education and clinical integration processes. Use of web-enhanced or web-based learning adds a dimension of interactivity with the learner. It also allows for frequent update of information through the use of links to other Internet sites. A number of web-based genetics courses exist; however, they tend to focus on enhancing the genetic knowledge of traditional Mendelian genetics, with some emphasis on the molecular biology underpinnings. These courses also tend to be diseasespecific or limited to a single topic and often vary in content, availability, and faculty expertise. Web-based materials that are not integrated into a structural framework have limited educational value.50 The primary purpose of the FCCGP curriculum differs from other web-based courses, because it aims to teach HCPs how to integrate new genetic discoveries into practice and provide information on the effects of the HGP on individuals and their families and how to provide care within a family context. The FCCGP is an interdisciplinary endeavor that joins 2 schools of nursing (University of Illinois at Chicago [UIC] and the Johns Hopkins University [JHU]) and 2 schools of medicine (UIC and University of Chicago) to develop and test a competency-based online curriculum. Core competencies developed by the National Coalition of Health Professional Education in Genetics (NCHPEG; www.nchpeg.org) guide curriculum development, implementation, and the evaluation of learner’s knowledge, skills, and attitudes. The project aim is to train practicing nurses and physicians, as well as current students, to integrate genetic principles into their clinical practices, while using concepts of family functioning as the basis for interactions with patients and their families. A clinical integration model (CIM) serves as the framework for curriculum development. The model features gene function as central to clinical knowledge and links the health status of individuals to gene function, the family, and to the larger environment (Fig 1). The core genetic principle underlying the curriculum is that of gene function, which includes all other basic mo-
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Genetic Issue in Newborns and Infants
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Fig 1. Clinical integration model. Family as context in Clinical Genetics Project (Grant #1 R25 HG002259-01).
lecular biological principles of genetics. Understanding that genes code for the proteins that perform almost every function of the human body is a central concept of the curriculum and is represented in the center of the model. One cannot get to the core of this model without going through the remaining basic principles. The remaining principles are environment, family, and clinical manifestations (individual expression). The environment includes our physical environment, as well as the social environment in which we live, work, and provide clinical care. Each is impacted by gene function and each impacts gene function. Most, if not all, disease processes are related to a disruption in the normal functioning of genes and/or their products (proteins, enzymes). The interplay with the environment determines how these genetic disruptions will affect health, physical appearance, and longevity. In addition to being the transmitter of genes between generations, the family is the mediator and interpreter of the genes and of the physical, social, and cultural environment in which an individual develops. The environment, in turn, can alter the gene function of the individual. Any deviations from normal gene function can be related to the individual’s gene interactions, the biological family, or interactions with the environment. What often results is the clinical manifestation of disease. The CIM is a visual representation that is consistent with the principles of the genetics and positions the family as the context for the proper management of clinical conditions.
ostnatal screening for inherited disorders, such as PKU, sickle cell disease, cystic fibrosis (CF), maple syrup urine disease, homocystinuria, and galactosemia, are current genetic conditions being evaluated in the neonatal period. However, with the increasing prevalence of prenatal and postnatal testing for conditions that do not manifest themselves in the neonatal period, such issues and concerns are sources of questions for parents of newborns and infants. Thus, it is imperative that newborn and infant nurses be familiar with the impact of genetic testing on parents. Although genetic testing may not actually be performed during the newborn period, it is a time when parents may have many questions and concerns about the health of their newborn. Furthermore, screening for autosomal recessive conditions, such as is currently performed in the newborn period, raises new issues for families with no known history of these diseases. For instance, a couple who has a child that is diagnosed with PKU may have questions about screening older, healthy children to find out if they are carriers. Carrier testing may encourage greater openness within families and enable family members to make informed plans for education, employment, insurance, and relationships.51–53 Clinicians who are knowledgeable about risks and benefits of genetic testing are better equipped to provide family members with the information necessary to determine whether genetic testing is appropriate.52,53 One area that has witnessed an explosion of genetic information is cystic fibrosis. To date, over 800 mutations of the CF gene have been identified, leading to greater ambiguity and uncertainty for many affected individuals and families.54 With media coverage of these genetic breakthroughs, some parents may believe that CF is curable. They hear news reports of gene therapy/transfer aimed at fixing the defective CF gene or altering the molecular/cellular processes that are disrupted which lead to the clinical manifestations of CF. What is not reported is the limited progress made on successfully replacing or repairing this gene. To the public, CF is a life-threatening disease that exemplifies all genetic diseases and the possibility of treatment or prevention of these diseases through prenatal testing and screening and repair of the gene. Less emphasized in the media is the fact that it may be decades before we are able to effectively treat most of the childhood genetic diseases. Therefore, health professionals must have basic knowledge of genetics and the current status of clinical applications of new genetic technologies to effectively teach, support, and advocate for children and their families. Newborn and infant nurses have always been exceed-
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ingly good about building a rapport with families. We need to capitalize on this relationship to educate our families about genetics and how testing and screening can prevent some diseases or improve the quality of life for others. These and other issues need to be explored further in this population and in parents and families across a broader range of genetic conditions. While new genetic knowledge holds great promise for health care, the acquisition of genetic knowledge has inherent risks and benefits and has created new dilemmas for families who need to make decisions for a child with a genetic disorder. Not only are parents expected to master new and sophisticated health information,55 they are called on to make critical judgments regarding how and to whom the information will be conveyed, when to seek or provide additional information, and how to use the information for subsequent decisions. Many times, family members do not correctly remember the genetic information they receive nor do they have an opportunity to explore its meaning and family implications with HCPs.46 Studies suggest that some adults have difficulty understanding probability and interpreting risk estimates.46,56 For instance, a report on adult siblings of individuals with cystic fibrosis indicated that 30% of siblings believed that carrier status implied health difficulties.57 Hence, information is essential to parents’ ability to understand genetic risk, to transmit accurate facts to others, and to help their child and other family members adapt to the condition.57 HCPs are an important source of this information, making it imperative that we all work to become and remain up-to-date with genetic knowledge.
Conclusion
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ur knowledge of genetics is growing and evolving each day. It is pervasive in our private and professional lives. The proliferation of genetic discoveries has unique implications for families. These include the high public visibility of the discoveries with an expectation for cure, the presence of a presymptomatic phase following positive genetic testing, the varying needs of family members to know the genetic information, the need for multiple family members to be included in genetic studies over time, and the risks of discrimination and loss of privacy. The complexity of the effects of new genetic knowledge on families requires all HCPs to be able to integrate knowledge of genetics, its clinical applications, and family functioning in their practice. The application of genetics to health care challenges HCPs to reframe their thinking about disease mechanisms; the prevention and treatment of disease; and the family, ethical, legal, and social implications of genetic discover-
ies. Sound genetic education includes introducing genetic concepts and implications for families early in formal education and providing ongoing education for geneticsbased care. We must not only educate future generations of practitioners and scientists in ways that encourage clinical integration of this new knowledge, but we must also bring the existing cadre of practitioners up-to-date and provide mechanisms to keep them current with advances. As newborn and infant nurses, we care for infants and children within the context of the family. The family unit is essential to what we do. We have advocated for years that families are partners in care and they are not visitors in our institutions. Does it not then seem reasonable that we make up our educational deficits in genetics so that we can assist these families? We have presented a brief overview of genetics, the genetics revolution, the complexity of the family unit, and the educational deficits that health professionals have in relationship to genetic knowledge. We have presented 2 projects that have research and educational components to them. It is our belief that more educational programs need to be available to help HCPs keep up-to-date with the human genome research and its implications for health. For this knowledge to change practice, it has to be relevant and applicable to clinical practice. We believe that when equipped with up-to-date and adaptable genetic knowledge, newborn and infant nurses can help shape the future health of generations to come. Using the family context allows us to do what we do best—look from a holistic view and not reduce the child to a disease. We believe in putting the child and family first and integrating the genetic knowledge within this context. The family guides our practice, so why not use it as a guide to our educational process as well?
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