- Email: [email protected]
Pedigree analysis: One teaching strategy to incorporate genetics into a full FNP program
Nurse Education in Practice (2006) 6, 169–174
Nurse Education in Practice www.elsevierhealth.com/journals/nepr
Pedigree analysis: One teaching strategy to incorporate genetics into a full FNP program Gretchen Schumacher
a,
*, Alice E. Conway
b,1
, Judith A. Sparlin
c,2
a
Nursing Faculty/Slippery Rock University, Clarion/Edinboro/Slippery Rock Universities Master of Science in Nursing and Family Nurse Practitioner Program, 115B Strain Building, Slippery Rock, PA 16057, United States b Department of Nursing, Clarion/Edinboro/Slippery Rock Universities Master of Science in Nursing and Family, Nurse Practitioner Program, Edinboro, PA 16444, United States c Graduate Faculty, Clarion University, Clarion/Edinboro/Slippery Rock Universities Master of Science in Nursing and Family Nurse Practitioner Program, 311 Belladonna Drive, Glenshaw, PA 15116, United States Accepted 14 December 2005
KEYWORDS
Summary The successful completion of the genome project in April 2003 and explosion of genetic knowledge is impacting healthcare at a dramatic rate. All healthcare providers need to update themselves on genetics in order to provide comprehensive care. This article describes a national grant obtained to educate faculty regarding incorporating genetics into courses. It also presents an innovate method for incorporating genetics into a full Family Nurse Practitioner (FNP) curriculum. Student responses and guidelines for one assignment are included. Utilizing this type of assignment in FNP courses is beneficial to both students and faculty. With more FNPs assessing patterns for illness in families, primary prevention and earlier intervention in primary care can be achieved. c 2006 Published by Elsevier Ltd.
Genetic pedigree; Pedigree analysis; Genetics; Primary care; Teaching strategy
Introduction
On April 14, 2003 The National Genome Research Institute (NHGRI), part of the National Institutes * Corresponding author. Tel.: +1 724 738 4916; fax: +1 724 738 2509. E-mail addresses: [email protected], aconway@edinboro. edu, [email protected]. 1 Tel.: +1 814 732 2285; fax: +1 814 732 2536. 2 Tel.: +1 412 487 4399.
1471-5953/$ - see front matter c 2006 Published by Elsevier Ltd. doi:10.1016/j.nepr.2005.12.001
of Health (NIH), the Department of Energy (DOE), and their partners in the International Human Sequencing Consortium announced the successful completion of the Human Genome Project (HGP). The HGP was the international, collaborative program whose goal was the complete mapping and understanding of all the genes of human beings. All our genes together are known as our ‘‘genome’’. The international research centers that collaborated with the United States were located in
170 the United Kingdom, Japan, Germany, and China (National Human Genome Research Institute, 2004). The information gleaned from this project has quickly opened doors that will dramatically alter the face of medicine and healthcare. An example of what’s next for NHGRI is a genetic mapping project, or HapMap, which will speed the discovery of genes related to common illnesses such as asthma, cancer, diabetes and heart disease. The HapMap should also be a powerful resource for studying the genetic factors contributing to variation in response to environmental influences in susceptibility to infection, and in the effectiveness of drugs and vaccines. Individualized analysis based on each person’s genome will lead to a very powerful form of preventive medicine. We will be able to learn about risks of future illness based on DNA analysis. Healthcare providers will be able to work with individuals to focus efforts that are most likely to maintain health for a particular individual. That might mean diet or lifestyle changes, or it might mean medical surveillance. However, there will be a personalized aspect to what to do to keep ourselves healthy. The completion of the HGP will substantially revise our understanding of disease susceptibility and causation. As a result, some nurses may need to be trained to become genetic nurse counselors, nurse midwives and obstetrical nurses will need greater skills to recognize genetic risks and give appropriate referrals, and nurses in primary care will need increased understanding of genetic testing, disease prediction, and new treatments. Preparing nurses for new genetics-influenced roles will require a commitment to the integration of genetics in all levels of nursing curricula.
Genetics and implications for nursing practice Advances in genetic knowledge and technology will increase the ability to test individuals for late-onset conditions, susceptibilities to diseases and carrier status of other diseases. Individuals and families will need to make decisions pertaining to this knowledge and informed consent and ethical considerations. Optimal nursing care requires awareness of psychosocial and ethical issues involved in genetic testing, therefore nurses must be educated and prepared to acknowledge and facilitate discussion with families regarding genetic testing and screening.
G. Schumacher et al. Jenkins (2001) outlines ethical and practical implications for genetics and nursing. According to Jenkins, practical considerations for nurses regarding the revolution of genetic developments include (1) determining the best ways to offer genetic services and (2) determination of the nurses’ role in supporting the decision-making by individuals pursuing genetic testing. How do nurses worth with other providers to offer services based on risk profiles? How are nurses being prepared to assume this support role? Additionally, genetic testing and screening options have individualized psychological impacts upon persons and families. Nurses will need to assist individuals in evaluating the potential personal and family consequences that coincide with decision making related to the results of genetic testing or screening (Jenkins, 2001). Nurses will need to be knowledgeable about what genetic tests are analyzing and their benefits, limitations and risks.
Genetics and nursing curricula Nursing education will have to equip nurses at undergraduate and graduate levels with the knowledge and skills needed as healthcare adopts changes in practice brought about by genetics. Knowledge of the science of genetics is needed to underpin the awareness of ethical, legal, and social issues affecting nursing practice and caring for individuals and families. Inclusion of genetics in curricula and training is already begun in both the academic and clinical arenas. The NIH and NHGRI funded a project directed by the Foundation for Blood Research (FBR) to create a practice based genetics curriculum for nurse educators (FBR, 2005). This field tested and evaluated Genetics curriculum consists of ‘‘four teacher-assisted modules aimed at providing nurse educators and nursing students practical and relevant genetics teaching materials. It is also effective in providing genetics education together with information resources to assist nursing students to incorporate the necessary clinical genetic focus into family, medical and physical assessments’’ (FBR, 2005). The curriculum also provides guidelines for planning and nursing interventions. This excellent resource has been used to guide the integrations of genetic content into nursing curricula in multiple states in the US. Information regarding the curricula is available at: http://www.fbr.org/publications/gencur-nursedu/nihdale2000.html. Cincinnati Children’s Hospital Medical Center (CCHMC) is another resource offering a genetics program for nurses. Nursing faculty from 199 different
Pedigree analysis: One teaching strategy to incorporate genetics into a full FNP program institutions (mostly nursing schools) and 44 states have participated in their Summer Institute or Web-based Genetics Institute (CCHMC, 2005). The programs offered include a 7 week continuing education course on genetic testing, a web based genetic curriculum, and self-paced modules related to various genetics topics. Information regarding these resources is available at: http://www.cincinnatichildrens.org/ed/clinical/gpnf/. To address the need for increased genetic content specifically in graduate level health professions curricula, the US Department of Health and Human Services selected Duke University Medical Center in North Carolina to develop an innovative program that brought graduate faculty teams from nurse practitioner, nurse midwifery and physician assistant programs throughout the United States together to learn about advances in genetics and methods. This program was entitled the genetic interdisciplinary faculty-training program (GIFT). Emphasis was placed on the incorporation of genetics throughout their graduate curricula. Each team also included a medical geneticist, genetic counselor, or biologist knowledgeable and interested in genetics who would work with the team as a resource when they returned to their home institutions. This innovative program accepted up to 25 faculty teams to participate in the educational program over 3 years. The educational program consisted of three parts. In the first part, there was an online genetics primer that prepared the faculty teams for their time at Duke University. This primer was then available to all students from the faculties’ participating institutions upon return. Second, there was an on campus intensive week of classes addressing genetics, and related social, political, cultural, ethical, religious, and legal ramifications. Additional content included faculty development, curriculum design, case scenarios, and standardized patients. At the completion of the second phase, the faculty teams were awarded a monetary stipend to use at their home institutions to support integrating genetics content in the curriculum. The third part offered faculty online resources, faculty forms with a shared moderator for shared problem solving for their use when at the home institution.
Advanced practice nursing and genetics The American Academy of Nurse Practitioners (AANP) defines the advanced practice nurse as a nurse practitioner (NP), certified nurse midwife (CNM), nurse anesthetist (CRNA), and clinical nurse specialist (CNS). Entry-level preparation is a master’s degree. According to their practice specialty
171
these providers provide nursing and medical services to individuals, families, and groups. In addition to diagnosing and managing acute episodic and chronic illnesses, nurse practitioners emphasize health promotion and disease prevention (AANP, 2002). In 2002 The International Council of Nurses (ICN) Board of Directors approved the following definition of a nurse practitioner. A Nurse Practitioner/Advance Practice Nurse is a registered nurse who has acquired the expert knowledge base, complex decision-making skills and clinical competencies for expanded practice, the characteristics of which are shaped by the context and/or country in which s/he is credentialed to practice. A Masters degree is recommended for entry level (ICN, 2002). Realizing the rapid expansion of knowledge and impact of this knowledge in genetics for healthcare providers and their patients, the National Organization of Nurse Practitioner Faculties (NONPF) in partnership with the American Association of College of Nursing (AACN) included knowledge regarding genetics into the Nurse Practitioner Primary Care Competencies in the Specialty Areas (NONPF, 2002). These competencies are used by nurse practitioner graduate programs to prepare for ongoing national accreditation of their programs. Thus, it becomes imperative for nurse practitioner programs to include material on genetics for students. But where to begin? This article will highlight one nurse practitioner program’s strategy for integrating genetic content in to its curricula and teaching students to construct a three-generation pedigree. The pedigree analysis assignment objectives, instrument for evaluating the pedigree and student and faculty responses are included. It potentially serves as a model for other educational paradigms to incorporate genetics into curricula.
Incorporation of pedigrees into advanced pathophysiology The role of genetics in the pathogenesis of disease was introduced to students in Advanced Pathophysiology the 1st night of class. The course introduction presented epidemiology and etiology as the driving forces in the study of pathophysiology. Etiology was then expanded to include environmental and genetic risk factors. Class discussions of basic genetics, including chromosomal aberrations and mutations, help the instructor assess the varied
172 levels of student competency in basic genetics. The levels of understanding of this ever expanding and relevant science were consistently low for this returning adult student population. The online genetic primer of the first phase of the GIFT program offered a quick and easy solution to begin filling the gap between information students learned in nursing school 10–20 years ago and what is currently necessary for them to understand. Although Phase 1 was eased into the course as an optional assignment, most of the students enthusiastically participated. Pedigree analysis is used throughout the course to gain a better understanding of the method of inheritance functioning in the etiology of a disease. Diagramed examples were studied and interpreted in such diseases as breast cancer and familial hypercholesterolemia. More advanced genetic concepts such as penetrance, oncogenes and tumor suppressor genes were then introduced. This gradual exposure to more advanced concepts allowed students to incorporate genetic etiologies into their literature reviews of the pathophysiology of various diseases. After students became acquainted with the mechanism of pedigree analysis the construction of pedigrees began. Initially simple pedigrees were done together in class. These were followed by assignments wherein case studies were presented to students for pedigree construction. The case studies included families with heart disease and cardiac risk factors, sickle cell anemia, and autoimmune diseases. Students were also encouraged to develop a personal family pedigree, if desired, or a pedigree for one of their patients.
The genetic pedigree analysis and plan assignment The faculty member assigned to teach the Maternal-Child theory and clinical course developed a pedigree analysis assignment guidelines and evaluation form (Table 1). The assignment objectives included diagramming and reporting a detailed family history and relationships between members, pathophysiological processes, current research findings, and interdisciplinary management of a discovered illness trend (Table 2). Students choosing to develop their own personal family pedigree analysis were permitted to change names of family members in order to preserve confidentiality if desired. Because of the possibility of discovering unknown genetic predispositions, students were counseled regarding this possibility
G. Schumacher et al. prior to completing the assignment. It is ethical to recommend counseling and support resources that may be needed prior to a student’s discovery.
Faculty and student benefits Students were also asked to evaluate the assignment’s value including its impact upon knowledge of genetic issues and future practice initiatives. The value of the assignment as reported by the students was overwhelmingly positive. Some student comments included: ‘‘This assignment has made me more aware of the genetic tendencies that many diseases have. Prior to this assignment, I was not aware of the fact that Crohn’s disease has such a strong genetic component. However, since I have worked on this assignment, I have talked to other individuals who have relatives with either Crohn’s disease or ulcerative colitis. One person I talked to has three brothers with Crohn’s. She does not have it as of yet, but is concerned that maybe her children will develop the condition. This assignment also helped me to see how important it is to ask patients about conditions that their grandparents, parents, children, aunts and uncles may have. This assessment can be done in a brief period of time and is certainly worth the few seconds that it takes to do this. This can help me be more aware of specific things that I need to watch for in my patients in order to detect illnesses in the beginning stages.’’ ‘‘Overall, I thought this assignment was very thought provoking and interesting. Since I used my own family tree, it was interesting to see my family history on paper and see the patterns that are evolving through the generations. I think this assignment will continue to make me ponder my own health and what may await me in the future that has already affected the others in my tree. My husband is adopted and until this point, has never wanted to know anything of his biological background, however, after seeing my assignment and my family tree, he has been contemplating attempting to learn more of his own health background. This has been a very good learning experience for my whole household.’’ ‘‘Prior to this assignment, I regarded hypertension as a fairly common and easily treatable disease. I was aware it could be genetically inherited, but not to the degree I found in the literature. It is amazing to me that a portion of a single chromosome can completely alter a person’s entire susceptibility or tendency toward a certain disease!
Pedigree analysis: One teaching strategy to incorporate genetics into a full FNP program Table 1
173
Evaluation form for genetic pedigree analysis Student name
Grade
Evaluation Form: Genetic Pedigree Analysis and Plan Key:
0 – Not Applicable
1 – Poor
2 – Fair
1. Family Background and Dynamics
3 – Good 0
1
4 – Excellent 2
3
4
A. Thorough description of family in narrative form included B. Pertinent information regarding structural, developmental, and functional content as seen in Calgary Family Assessment model included C. Ecomap included 2. Genetic Predispositions/Problems Detected A. Description of tendency(s) discovered included B. Brief summary of current research finding related to problem included C. Specific genetic pathophysiology included if applicable D. Research based ethnic/racial relations to illness described E. Pedigree included and accurately designed 3. Management Plan A. Management plan with time frame included B. Management plan based on interdisciplinary management C. Other recommendations included based on current standards of care 4. Form and Style A. Correct spelling, grammar, word choice B. Uses most recent APA Style 5. Assignment’s value to student A. Documented assignment impact on knowledge of genetic/cultural issues and future practice initiatives Total Score: _________
Table 2
Pedigree analysis assignment objectives
Clarion/Edinboro/Slippery Rock Universities Master of Science in Nursing and Family Nurse Practitioner Program Pedigree analysis and plan Assignment objectives
1. The student will complete an assessment of a family, documenting genetic disease predispositions and problems, and formulate a management plan for assessment findings 2. The student will state an understanding of racial/ethnic correlations and predispositions to illness 3. The student will maintain confidentiality and privacy for all members involved in the interview process 4. The student will diagram and report (a) Detailed family history and relationships between members (b) Pathophysiologic processes, current research findings, and interdisciplinary management of assessment findings
174 This assignment has given me a great respect for what enormous impact genetics can have on a family. Even though genetic testing is not front line for primary hypertension, at this point anyway, initiatives can be made in families with primary hypertension to have regular check ups with special attention to the blood pressure.’’ The assignment also educated faculty regarding disease specific genetic risk factors and current screening modalities. The brief literature reviews, analysis of the pathophysiology of the disease processes, and review of current scientific correlations between diseases and genetic predispositions, informed the faculty of theories about the relationships between genetics and specific diseases. Faculty members were also educated regarding genetic predispositions and susceptibility for diseases and current implications for diseases, specifically. Also, by requiring students to document findings of genetic trends in the clinical experiences, knowledge was gained regarding the genetic trends and issues in the program’s geographic location.
Summary The HGP has heralded a whole new era of our understanding of disease predisposition and causation. It is imperative for nurses to develop greater understanding of the projects implications for nurses practicing worldwide. Clinical and academic settings have initiated the integration of genetic content into curricula and professional development. Educators preparing advanced practice nurses are seizing opportunities to include genetic content into curricula despite the challenge of limited curricular space in full programs. Nevertheless, incorporating genetics into a full curriculum is beneficial to both faculty and students. By increasing genetic
G. Schumacher et al. concentration in the pathophysiology course, students are encouraged to seek genetic predispositions for diseases. By completing the pedigree analysis and management plan, students discover the importance of assessing family histories in the primary care setting. In addition, requiring Family Nurse Practitioner (FNP) students to log discovered patterns of disease predispositions in their clinical settings encourages them to incorporate pedigree analysis in their future practice. With more FNPs assessing patterns for illnesses in families, primary prevention and earlier intervention can be achieved. Finally, the genetic pedigree and analysis assignment can educate faculty regarding genetics and illnesses and offer insight regarding illness patterns in the program’s geographic area.
References American Academy of Nurse Practitioners, 2002. Nurse practitioners as an advanced practice nurse role position statement. Retrieved August 17th, 2004 from. Cincinnati Children’s Hospital Medical Center, 2005. Genetics Education Program for Nurses. Retrieved January 30th from . International Council of Nurses, 2002. ICN announces its position on advanced nursing roles. International Nursing Review 49, 202. Jenkins, J., 2001. Ethical implications of genetic information. Online Journal of Issues in Nursing, retrieved September 1, 2005 from . National Human Genome Research Institute, 2004. Retrieved August 17, 2004 from .
Nurse Education in Practice www.elsevierhealth.com/journals/nepr
Pedigree analysis: One teaching strategy to incorporate genetics into a full FNP program Gretchen Schumacher
a,
*, Alice E. Conway
b,1
, Judith A. Sparlin
c,2
a
Nursing Faculty/Slippery Rock University, Clarion/Edinboro/Slippery Rock Universities Master of Science in Nursing and Family Nurse Practitioner Program, 115B Strain Building, Slippery Rock, PA 16057, United States b Department of Nursing, Clarion/Edinboro/Slippery Rock Universities Master of Science in Nursing and Family, Nurse Practitioner Program, Edinboro, PA 16444, United States c Graduate Faculty, Clarion University, Clarion/Edinboro/Slippery Rock Universities Master of Science in Nursing and Family Nurse Practitioner Program, 311 Belladonna Drive, Glenshaw, PA 15116, United States Accepted 14 December 2005
KEYWORDS
Summary The successful completion of the genome project in April 2003 and explosion of genetic knowledge is impacting healthcare at a dramatic rate. All healthcare providers need to update themselves on genetics in order to provide comprehensive care. This article describes a national grant obtained to educate faculty regarding incorporating genetics into courses. It also presents an innovate method for incorporating genetics into a full Family Nurse Practitioner (FNP) curriculum. Student responses and guidelines for one assignment are included. Utilizing this type of assignment in FNP courses is beneficial to both students and faculty. With more FNPs assessing patterns for illness in families, primary prevention and earlier intervention in primary care can be achieved. c 2006 Published by Elsevier Ltd.
Genetic pedigree; Pedigree analysis; Genetics; Primary care; Teaching strategy
Introduction
On April 14, 2003 The National Genome Research Institute (NHGRI), part of the National Institutes * Corresponding author. Tel.: +1 724 738 4916; fax: +1 724 738 2509. E-mail addresses: [email protected], aconway@edinboro. edu, [email protected]. 1 Tel.: +1 814 732 2285; fax: +1 814 732 2536. 2 Tel.: +1 412 487 4399.
1471-5953/$ - see front matter c 2006 Published by Elsevier Ltd. doi:10.1016/j.nepr.2005.12.001
of Health (NIH), the Department of Energy (DOE), and their partners in the International Human Sequencing Consortium announced the successful completion of the Human Genome Project (HGP). The HGP was the international, collaborative program whose goal was the complete mapping and understanding of all the genes of human beings. All our genes together are known as our ‘‘genome’’. The international research centers that collaborated with the United States were located in
170 the United Kingdom, Japan, Germany, and China (National Human Genome Research Institute, 2004). The information gleaned from this project has quickly opened doors that will dramatically alter the face of medicine and healthcare. An example of what’s next for NHGRI is a genetic mapping project, or HapMap, which will speed the discovery of genes related to common illnesses such as asthma, cancer, diabetes and heart disease. The HapMap should also be a powerful resource for studying the genetic factors contributing to variation in response to environmental influences in susceptibility to infection, and in the effectiveness of drugs and vaccines. Individualized analysis based on each person’s genome will lead to a very powerful form of preventive medicine. We will be able to learn about risks of future illness based on DNA analysis. Healthcare providers will be able to work with individuals to focus efforts that are most likely to maintain health for a particular individual. That might mean diet or lifestyle changes, or it might mean medical surveillance. However, there will be a personalized aspect to what to do to keep ourselves healthy. The completion of the HGP will substantially revise our understanding of disease susceptibility and causation. As a result, some nurses may need to be trained to become genetic nurse counselors, nurse midwives and obstetrical nurses will need greater skills to recognize genetic risks and give appropriate referrals, and nurses in primary care will need increased understanding of genetic testing, disease prediction, and new treatments. Preparing nurses for new genetics-influenced roles will require a commitment to the integration of genetics in all levels of nursing curricula.
Genetics and implications for nursing practice Advances in genetic knowledge and technology will increase the ability to test individuals for late-onset conditions, susceptibilities to diseases and carrier status of other diseases. Individuals and families will need to make decisions pertaining to this knowledge and informed consent and ethical considerations. Optimal nursing care requires awareness of psychosocial and ethical issues involved in genetic testing, therefore nurses must be educated and prepared to acknowledge and facilitate discussion with families regarding genetic testing and screening.
G. Schumacher et al. Jenkins (2001) outlines ethical and practical implications for genetics and nursing. According to Jenkins, practical considerations for nurses regarding the revolution of genetic developments include (1) determining the best ways to offer genetic services and (2) determination of the nurses’ role in supporting the decision-making by individuals pursuing genetic testing. How do nurses worth with other providers to offer services based on risk profiles? How are nurses being prepared to assume this support role? Additionally, genetic testing and screening options have individualized psychological impacts upon persons and families. Nurses will need to assist individuals in evaluating the potential personal and family consequences that coincide with decision making related to the results of genetic testing or screening (Jenkins, 2001). Nurses will need to be knowledgeable about what genetic tests are analyzing and their benefits, limitations and risks.
Genetics and nursing curricula Nursing education will have to equip nurses at undergraduate and graduate levels with the knowledge and skills needed as healthcare adopts changes in practice brought about by genetics. Knowledge of the science of genetics is needed to underpin the awareness of ethical, legal, and social issues affecting nursing practice and caring for individuals and families. Inclusion of genetics in curricula and training is already begun in both the academic and clinical arenas. The NIH and NHGRI funded a project directed by the Foundation for Blood Research (FBR) to create a practice based genetics curriculum for nurse educators (FBR, 2005). This field tested and evaluated Genetics curriculum consists of ‘‘four teacher-assisted modules aimed at providing nurse educators and nursing students practical and relevant genetics teaching materials. It is also effective in providing genetics education together with information resources to assist nursing students to incorporate the necessary clinical genetic focus into family, medical and physical assessments’’ (FBR, 2005). The curriculum also provides guidelines for planning and nursing interventions. This excellent resource has been used to guide the integrations of genetic content into nursing curricula in multiple states in the US. Information regarding the curricula is available at: http://www.fbr.org/publications/gencur-nursedu/nihdale2000.html. Cincinnati Children’s Hospital Medical Center (CCHMC) is another resource offering a genetics program for nurses. Nursing faculty from 199 different
Pedigree analysis: One teaching strategy to incorporate genetics into a full FNP program institutions (mostly nursing schools) and 44 states have participated in their Summer Institute or Web-based Genetics Institute (CCHMC, 2005). The programs offered include a 7 week continuing education course on genetic testing, a web based genetic curriculum, and self-paced modules related to various genetics topics. Information regarding these resources is available at: http://www.cincinnatichildrens.org/ed/clinical/gpnf/. To address the need for increased genetic content specifically in graduate level health professions curricula, the US Department of Health and Human Services selected Duke University Medical Center in North Carolina to develop an innovative program that brought graduate faculty teams from nurse practitioner, nurse midwifery and physician assistant programs throughout the United States together to learn about advances in genetics and methods. This program was entitled the genetic interdisciplinary faculty-training program (GIFT). Emphasis was placed on the incorporation of genetics throughout their graduate curricula. Each team also included a medical geneticist, genetic counselor, or biologist knowledgeable and interested in genetics who would work with the team as a resource when they returned to their home institutions. This innovative program accepted up to 25 faculty teams to participate in the educational program over 3 years. The educational program consisted of three parts. In the first part, there was an online genetics primer that prepared the faculty teams for their time at Duke University. This primer was then available to all students from the faculties’ participating institutions upon return. Second, there was an on campus intensive week of classes addressing genetics, and related social, political, cultural, ethical, religious, and legal ramifications. Additional content included faculty development, curriculum design, case scenarios, and standardized patients. At the completion of the second phase, the faculty teams were awarded a monetary stipend to use at their home institutions to support integrating genetics content in the curriculum. The third part offered faculty online resources, faculty forms with a shared moderator for shared problem solving for their use when at the home institution.
Advanced practice nursing and genetics The American Academy of Nurse Practitioners (AANP) defines the advanced practice nurse as a nurse practitioner (NP), certified nurse midwife (CNM), nurse anesthetist (CRNA), and clinical nurse specialist (CNS). Entry-level preparation is a master’s degree. According to their practice specialty
171
these providers provide nursing and medical services to individuals, families, and groups. In addition to diagnosing and managing acute episodic and chronic illnesses, nurse practitioners emphasize health promotion and disease prevention (AANP, 2002). In 2002 The International Council of Nurses (ICN) Board of Directors approved the following definition of a nurse practitioner. A Nurse Practitioner/Advance Practice Nurse is a registered nurse who has acquired the expert knowledge base, complex decision-making skills and clinical competencies for expanded practice, the characteristics of which are shaped by the context and/or country in which s/he is credentialed to practice. A Masters degree is recommended for entry level (ICN, 2002). Realizing the rapid expansion of knowledge and impact of this knowledge in genetics for healthcare providers and their patients, the National Organization of Nurse Practitioner Faculties (NONPF) in partnership with the American Association of College of Nursing (AACN) included knowledge regarding genetics into the Nurse Practitioner Primary Care Competencies in the Specialty Areas (NONPF, 2002). These competencies are used by nurse practitioner graduate programs to prepare for ongoing national accreditation of their programs. Thus, it becomes imperative for nurse practitioner programs to include material on genetics for students. But where to begin? This article will highlight one nurse practitioner program’s strategy for integrating genetic content in to its curricula and teaching students to construct a three-generation pedigree. The pedigree analysis assignment objectives, instrument for evaluating the pedigree and student and faculty responses are included. It potentially serves as a model for other educational paradigms to incorporate genetics into curricula.
Incorporation of pedigrees into advanced pathophysiology The role of genetics in the pathogenesis of disease was introduced to students in Advanced Pathophysiology the 1st night of class. The course introduction presented epidemiology and etiology as the driving forces in the study of pathophysiology. Etiology was then expanded to include environmental and genetic risk factors. Class discussions of basic genetics, including chromosomal aberrations and mutations, help the instructor assess the varied
172 levels of student competency in basic genetics. The levels of understanding of this ever expanding and relevant science were consistently low for this returning adult student population. The online genetic primer of the first phase of the GIFT program offered a quick and easy solution to begin filling the gap between information students learned in nursing school 10–20 years ago and what is currently necessary for them to understand. Although Phase 1 was eased into the course as an optional assignment, most of the students enthusiastically participated. Pedigree analysis is used throughout the course to gain a better understanding of the method of inheritance functioning in the etiology of a disease. Diagramed examples were studied and interpreted in such diseases as breast cancer and familial hypercholesterolemia. More advanced genetic concepts such as penetrance, oncogenes and tumor suppressor genes were then introduced. This gradual exposure to more advanced concepts allowed students to incorporate genetic etiologies into their literature reviews of the pathophysiology of various diseases. After students became acquainted with the mechanism of pedigree analysis the construction of pedigrees began. Initially simple pedigrees were done together in class. These were followed by assignments wherein case studies were presented to students for pedigree construction. The case studies included families with heart disease and cardiac risk factors, sickle cell anemia, and autoimmune diseases. Students were also encouraged to develop a personal family pedigree, if desired, or a pedigree for one of their patients.
The genetic pedigree analysis and plan assignment The faculty member assigned to teach the Maternal-Child theory and clinical course developed a pedigree analysis assignment guidelines and evaluation form (Table 1). The assignment objectives included diagramming and reporting a detailed family history and relationships between members, pathophysiological processes, current research findings, and interdisciplinary management of a discovered illness trend (Table 2). Students choosing to develop their own personal family pedigree analysis were permitted to change names of family members in order to preserve confidentiality if desired. Because of the possibility of discovering unknown genetic predispositions, students were counseled regarding this possibility
G. Schumacher et al. prior to completing the assignment. It is ethical to recommend counseling and support resources that may be needed prior to a student’s discovery.
Faculty and student benefits Students were also asked to evaluate the assignment’s value including its impact upon knowledge of genetic issues and future practice initiatives. The value of the assignment as reported by the students was overwhelmingly positive. Some student comments included: ‘‘This assignment has made me more aware of the genetic tendencies that many diseases have. Prior to this assignment, I was not aware of the fact that Crohn’s disease has such a strong genetic component. However, since I have worked on this assignment, I have talked to other individuals who have relatives with either Crohn’s disease or ulcerative colitis. One person I talked to has three brothers with Crohn’s. She does not have it as of yet, but is concerned that maybe her children will develop the condition. This assignment also helped me to see how important it is to ask patients about conditions that their grandparents, parents, children, aunts and uncles may have. This assessment can be done in a brief period of time and is certainly worth the few seconds that it takes to do this. This can help me be more aware of specific things that I need to watch for in my patients in order to detect illnesses in the beginning stages.’’ ‘‘Overall, I thought this assignment was very thought provoking and interesting. Since I used my own family tree, it was interesting to see my family history on paper and see the patterns that are evolving through the generations. I think this assignment will continue to make me ponder my own health and what may await me in the future that has already affected the others in my tree. My husband is adopted and until this point, has never wanted to know anything of his biological background, however, after seeing my assignment and my family tree, he has been contemplating attempting to learn more of his own health background. This has been a very good learning experience for my whole household.’’ ‘‘Prior to this assignment, I regarded hypertension as a fairly common and easily treatable disease. I was aware it could be genetically inherited, but not to the degree I found in the literature. It is amazing to me that a portion of a single chromosome can completely alter a person’s entire susceptibility or tendency toward a certain disease!
Pedigree analysis: One teaching strategy to incorporate genetics into a full FNP program Table 1
173
Evaluation form for genetic pedigree analysis Student name
Grade
Evaluation Form: Genetic Pedigree Analysis and Plan Key:
0 – Not Applicable
1 – Poor
2 – Fair
1. Family Background and Dynamics
3 – Good 0
1
4 – Excellent 2
3
4
A. Thorough description of family in narrative form included B. Pertinent information regarding structural, developmental, and functional content as seen in Calgary Family Assessment model included C. Ecomap included 2. Genetic Predispositions/Problems Detected A. Description of tendency(s) discovered included B. Brief summary of current research finding related to problem included C. Specific genetic pathophysiology included if applicable D. Research based ethnic/racial relations to illness described E. Pedigree included and accurately designed 3. Management Plan A. Management plan with time frame included B. Management plan based on interdisciplinary management C. Other recommendations included based on current standards of care 4. Form and Style A. Correct spelling, grammar, word choice B. Uses most recent APA Style 5. Assignment’s value to student A. Documented assignment impact on knowledge of genetic/cultural issues and future practice initiatives Total Score: _________
Table 2
Pedigree analysis assignment objectives
Clarion/Edinboro/Slippery Rock Universities Master of Science in Nursing and Family Nurse Practitioner Program Pedigree analysis and plan Assignment objectives
1. The student will complete an assessment of a family, documenting genetic disease predispositions and problems, and formulate a management plan for assessment findings 2. The student will state an understanding of racial/ethnic correlations and predispositions to illness 3. The student will maintain confidentiality and privacy for all members involved in the interview process 4. The student will diagram and report (a) Detailed family history and relationships between members (b) Pathophysiologic processes, current research findings, and interdisciplinary management of assessment findings
174 This assignment has given me a great respect for what enormous impact genetics can have on a family. Even though genetic testing is not front line for primary hypertension, at this point anyway, initiatives can be made in families with primary hypertension to have regular check ups with special attention to the blood pressure.’’ The assignment also educated faculty regarding disease specific genetic risk factors and current screening modalities. The brief literature reviews, analysis of the pathophysiology of the disease processes, and review of current scientific correlations between diseases and genetic predispositions, informed the faculty of theories about the relationships between genetics and specific diseases. Faculty members were also educated regarding genetic predispositions and susceptibility for diseases and current implications for diseases, specifically. Also, by requiring students to document findings of genetic trends in the clinical experiences, knowledge was gained regarding the genetic trends and issues in the program’s geographic location.
Summary The HGP has heralded a whole new era of our understanding of disease predisposition and causation. It is imperative for nurses to develop greater understanding of the projects implications for nurses practicing worldwide. Clinical and academic settings have initiated the integration of genetic content into curricula and professional development. Educators preparing advanced practice nurses are seizing opportunities to include genetic content into curricula despite the challenge of limited curricular space in full programs. Nevertheless, incorporating genetics into a full curriculum is beneficial to both faculty and students. By increasing genetic
G. Schumacher et al. concentration in the pathophysiology course, students are encouraged to seek genetic predispositions for diseases. By completing the pedigree analysis and management plan, students discover the importance of assessing family histories in the primary care setting. In addition, requiring Family Nurse Practitioner (FNP) students to log discovered patterns of disease predispositions in their clinical settings encourages them to incorporate pedigree analysis in their future practice. With more FNPs assessing patterns for illnesses in families, primary prevention and earlier intervention can be achieved. Finally, the genetic pedigree and analysis assignment can educate faculty regarding genetics and illnesses and offer insight regarding illness patterns in the program’s geographic area.
References American Academy of Nurse Practitioners, 2002. Nurse practitioners as an advanced practice nurse role position statement. Retrieved August 17th, 2004 from