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Genetics/Genomics in Nursing and Health Care Irene Ficaro Molloy College Curriculum Development NUR530-01 Dr. Rose Schecter November 27, 2012

GENETICS/GENOMICS IN NURSING AND HEALTH CARE Genetics/Genomics in Nursing and Health Care To develop relevant nursing curricula that will prepare nurses to practice in the complex and challenging healthcare environment of the future, revisions are necessary. The goals of the U. S. Department of Health and Human Service‟s decade long study targeting national health promotion and disease prevention, include “improving health and preventing harm through valid and useful genomic tools in clinical and public health practices”(Healthy People 2020, 2010, “Genomics goal”, para. 1). Nursing curricula, therefore, need to be revised to prepare nurses who can „think genetically‟ when faced with clinical situations (Read, Dylis, Mott, & Fairchild, 2004). Considering that the top 15 causes of mortality in the United States all have a genetic/genomic component (Calzone, Jenkins, Prows, & Masny, 2011), it is pertinent that all nurses learn how to identify genetic issues, educate patients/families on genetic health risks and support/counsel them using current resources. The National Council Licensure Examination (NCLEX) now includes genetic health components as part of activities related to health and wellness (National Council of State Boards of Nursing [NCSBN], 2010). A study conducted in 2005 found that only 30% of academic nursing programs included a thread of genetic/genomics in their curricula (Jenkins & Calzone, 2007). The 2008 Executive Summary of the American Association of Colleges of Nursing (AACN), entitled Essentials of Baccalaureate Education for Professional Nursing asserts that the baccalaureate nursing curriculum of the 21st century includes core knowledge in genetics/genomics (American Association of Colleges of Nursing [AACN], 2009). The AACN envisions nursing curricula that will influence the role of nurses in scientific


GENETICS/GENOMICS IN NURSING AND HEALTH CARE advances, calling for new ways of thinking and providing health care. By providing a


strong genetics background, future nurses will be equipped not only to provide evidencebased care for patients, but they will emerge as managers of patient-centered care. According to Read (Read et al., 2004), there has been a slow response of nurse educators to include genetics in nursing curricula. This course (Genetics/Genomics in Nursing and Health Care) intends to lend credence to the benefits of introducing such information into academic nursing curricula. Course Description This level IV baccalaureate course will explore the impact of genetic-based medicine on patient diagnosis, prognosis, care and role of the nurse. With an emphasis on clinical prevention, this course will guide students in identifying genetic issues in the clinical setting and advocating for client‟s access to desired genetic/genomic resources and services. Students will conduct a genetic health history and elicit a three-generational family pedigree. The student is responsible to secure an agreement with an individual or family unit to conduct this history. Prerequisites Completion of all core nursing courses, sciences and social sciences is required. Medical ethics, pharmacology, pathophysiology, maternal/child nursing, medical/surgical nursing and mental health nursing are also required as prerequisites. Co-requisite Community health nursing is a co-requisite 3 credits

Rationale for Course Description, Pre/Co-Requisites



A basic thread of genetics will have been woven into this particular nursing curriculum‟s basic core science and pathophysiology courses. The implications of genetics span through every aspect of nursing and need to be added to the content of each nursing course. The medical/surgical courses will have introduced the students to the various diseases and conditions with a genetics/genomics component, such as heart disease, diabetes, cancer and cerebrovascular diseases. Maternal/child nursing courses will familiarize the students with prenatal, reproductive and newborn screenings, as well as families with a history of sudden death syndrome. Medical ethics sets the stage for the student to appreciate how values, attitudes and beliefs influence genetic/genomic services (such as terminating a pregnancy). Basic health assessment and patient interviewing skills will have been developed by this stage in the curriculum. Students will build upon these skills as they explore deeper into the patient‟s health and three generational family histories. It will be assumed that in the university where this particular course is given, cultural competency is thoroughly addressed in the curriculum, so that the students can successfully incorporate culture, religion and literacy levels into their genetic assessments. Knowledge of evidence-based practice will ensure quality care in genetics/genomics. Courses in the social sciences lay the groundwork for understanding societies, cultures, behaviors, and psychological issues that can influence genetic-based decision making and counseling. A community health course taken with this course will serve as both an instructional and clinical arena to set the stage for genetic testing, assessments and counseling. Prevention, wellness care and health screening skills will be enhanced when these courses are taken together. The student will learn how to navigate through the health care system and advocate for health care policies.

GENETICS/GENOMICS IN NURSING AND HEALTH CARE This course would be offered as part of a baccalaureate program, as per the Institute of Medicine (IOM)‟s Future of Nursing report, which clearly advocates for a wider range of competencies in managing/preventing disease progression and recommends a more educated workforce (Committee on the Robert Wood Johnson Foundation Initiative on the future of nursing, at the Institute of Medicine [IOM], 2011). This course may influence the student to progress to a Master‟s in Advanced Practice in Genetics, which is now being offered in some graduate nursing programs. Core Objectives 


Demonstrate the relationship of genetics/genomics to health, prevention, treatment and screening of clients/families throughout the lifespan

Describe one‟s own attitude and values related to genetics/genomics and how this may affect care the client‟s care

 

Construct a three-generation family pedigree using standardized pedigree symbols Develop a family history and pedigree into a nursing assessment utilizing findings that may suggest the possibility of a genetic condition

Discuss the psychological impact that the presence of a genetic condition may have on a client and family

Identify clients who may benefit from specific genetic/genomic information and/or services based on assessment data Rationale for Core Objectives Core objectives for the course (Genetics/Genomics in Nursing and Health Care) are in

alignment with the Consensus Panel on Genetic/Genomic Competencies (Calzone et al., 2011) which established outcome indicators for essential nursing competencies and curricula guidelines

GENETICS/GENOMICS IN NURSING AND HEALTH CARE for genetics and genomics. This was based on peer reviewed documents and reviewed by members of the AACN. The Cincinnati Children‟s Hospital‟s Genetics Education Program for Nurses (GEPN) provides instructional resources to help nursing faculty add genetics/genomics education content to their curricula (Cincinnati Children‟s Hospital Medical Center, n.d.). They give targeted learning objectives and are funded by the Human Genome Research Institute.


The objectives given provide a description of the intended learning outcomes. They cover the domain of comprehension (describe, discuss, identify) which shows the student has the ability to construct meaning from the learned material. The domain of application (develop) implies using learned material in a new situation, such as a genetics-directed health interview. Synthesis (construct a three generational pedigree) is a higher level domain which demonstrates the ability to put parts together (such as health information) to form a unique new whole (a family pedigree to elicit health risk). Course Content 1. Importance of the Genomic Era to nursing practice a. Genetics versus genomics b. The Human Genome Project and its impact/relevance on nursing practice c. Identification of the implications of media reports about genetics/genomics related research for nursing practice 2. Review of basic genetic concepts and patterns of inheritance a. Review of differences between chromosomes, DNA and genes b. Review of basic genetic concepts and patterns of inheritance i. Mutation ii. Mode of inheritance for single gene diseases

GENETICS/GENOMICS IN NURSING AND HEALTH CARE 1. Autosomal dominant 2. Autosomal recessive 3. X-linked dominant 4. X-linked recessive iii. Punnett squares 3. Genetic basis of cancer a. Proto-oncogenes, oncogenes, suppressor genes and DNA repair genes b. Cell mutations c. Predisposition for cancer development d. Ways in which nurses can incorporate knowledge of cancer genetics into their practice e. Application of genetics in oncology nursing 4. Genetic testing a. Types of genetic tests b. Genetic screening versus genetic testing c. Case studies 5. History taking and pedigrees


a. Collecting personal, medical and family history that includes genetic/genomic and environmental risks i. Red flags-family history ii. Physical findings iii. Health history- includes environment and lifestyle factors

GENETICS/GENOMICS IN NURSING AND HEALTH CARE b. Pedigree construct i. Standard pedigree nomenclature and symbols ii. Type of information needed to collect and record iii. Family history tools c. Pedigree analysis i. Risk assessment ii. Identification of conditions warranting attention iii. Patterns of inheritance iv. Common health conditions with genetic/genomic component


6. Assessing client‟s knowledge, perceptions and responses to genetic/genomic information a. Cultural, social, ethnic and religious perspectives i. Genetic testing of children ii. Disclosure of genetic information iii. Misattributed paternity iv. Preimplantation testing b. Social and psychological implications of accessing genetic/genomic information and services c. Privacy and confidentiality issues d. Current state, federal and military policies and impact on privacy, health, long term care, disability insurance, and employment 7. Personal values and beliefs related to genetics/genomics a. Reflective practice on personal attitudes related to client care b. Personal values and biases affecting/interfering with care to clients

GENETICS/GENOMICS IN NURSING AND HEALTH CARE 8. Resources for patients and families


a. Developing an intraprofessional collaborative plan of care incorporating genetics b. Community genetic/genomic referrals c. Evidence-Based websites d. Support groups 9. Nursing roles in genetic healthcare a. History of the role of nursing and nursing education in genetics b. Current initiatives to promote genetic competencies in nursing c. International Society of Nurses in Genetics (ISONG) d. Essentials of Genetic and Genomic Nursing: Competencies, Curriculum Guidelines, and Outcome Indicators e. Exploration of different levels of genetics nursing practice i. Roles of genetics nurse ii. Genetics in advanced practice iii. Future of genetic nursing Rationale for Contents of Course It was recommended over forty years ago, that genetics be included in nursing curricula. Forty years later, there is still very little genetics content in entry level nursing curricula (Hetteberg & Prows, 2004). Outcome indicators for the Consensus Panel on Genetic/Genomic Nursing Competencies (Calzone et al., 2011) were drafted in 2009, providing a solid foundation to establish a competency-based resource for nurse educators to build into the nursing curricula. There is enough content, however, to establish a separate nursing course and a bold step will be taken to introduce this new course into the level IV nursing curriculum. As the content unfolds, it



will build upon pre-existing knowledge from an institution where genetics/genomics has already been carefully woven into its nursing courses. A literature review in genetics education conducted by Burke and Kirk (2006) explain that advances in genetic science will have a profound effect on healthcare delivery and the future of preventative health care. It is, therefore, prudent to introduce the course by defining the genomic era and the Human Genome Project, as well as current media reports on genetic/genomic science advances and discoveries. A basic review of genetics will follow this. Students will then be given various genetic topics to explore and see how pertinent the role of nursing is in assessing and counseling. Good instructional planning means that appropriate and essential concepts will be presented in a logical and meaningful sequence (Billings & Halstead, 2012). As students see the connection between genetic concepts and the effect on a client‟s health and well-being, they will be given skills to interview and elicit information to do a risk assessment and a pedigree. Students will learn how to counsel the client/family based on their assessment, as well as explore their own feelings toward genetics/genomics. This is an example of reflective learning. By ending with the role of nursing and the future of genetic nursing practice, the student will be aware of the need for nurses to consider specializing in this field and the need for advanced practice genetics nursing. Regardless of whether or not students desires to pursue this route, the knowledge obtained by this course will enable them to conduct more thorough nursing assessments and health screenings. Course Assignments 1. Select one media report on a genetic/genomics health issue and discuss the implications for nursing practice. Be prepared to share it in a class discussion.

GENETICS/GENOMICS IN NURSING AND HEALTH CARE 2. Select a disease/condition that has a genetic component and discuss the psychosocial impact it has on the patient/family. Discuss the ways in which nurses can meet the psychosocial and resource needs of the patient/family. Provide at least 3 current resources. Create a tri-fold pamphlet to display this information, as a resource for patient/family support. Please utilize this website for ideas: 3. View on-line Application of Genetics in Oncology Nursing: An Example @ Respond via


journaling your thoughts on the significance of the role of genetics in oncology nursing. 4. Select an individual and perform a health assessment to consider genetic/genomic risks. Include: a. Basic risk factors b. Red flags c. Confounders (race and ethnicity) d. Health history. 5. Construct a 3-generation pedigree from the above, using standardized pedigree symbols. Assess the risk for inherited diseases. Rationale for Course Assignments Students begin the course by being introduced to the relevance of genetics/genomics as it relates to nursing. Assignment #1 should spur thought and discussion on the purpose and value of this course and, hopefully, spark an interest in genetics nursing. The media report will meet the first mentioned course objective.

GENETICS/GENOMICS IN NURSING AND HEALTH CARE The second assignment uses website presentations on real case studies, giving students


the opportunity to see the implications genetic diseases have on clients/families. This assignment will address the genetic competency “assess client‟s knowledge, perceptions, and responses to genetic/genomic information” (Calzone et al., 2011, p. 185) as well as “facilitates referrals for specialized genetic/genomic information and services (Calzone et al., 2011, p. 188). Assignment #2 will meet the first, second, fourth and fifth course objectives. Assignment #3 will meet the first and fifth objectives. Assignments four and five will meet the third, fourth and sixth objectives. The last two assignments help students to explore ethnic, racial and cultural issues when presenting genetic information and choosing genetic services. It connects the possibility of family health history findings to suggest the possibility of a genetic condition. The course assignments address the various learning styles. Reading, listening to media and online resources, creating informational pamphlets, using reflective journaling, and conducting client interviews show a varied way for students to learn and show creativity. These learning activities serve to assist students in acquiring the learning outcomes for this course. The assignments are designed to help students synthesize the course in developing their critical thinking skills and applying the content to genetic based learning practice (Billings & Halstead, 2012). Reading List Beery, T and Workman, L (2012). Genetics and genomics in nursing and health care .Philadelphia, PA: F.A. Davis. -This text was found on the GEPN website. It is current and gives the science of genetics as well as the role of genetics in diagnosing and treating diseases. It covers the foundation of ethical behavior in providing genetic nursing care.

GENETICS/GENOMICS IN NURSING AND HEALTH CARE International Society of Nurses in Genetics, Inc. (2006) Genetics and genomics in nursing: Scope and standards of practice.Silver Springs:MD, International Society of Nurses in Genetics and the Nurses Association. - This provides the student with the standards of practice in genetics nursing. Jenkins, J., Grady, P. & Collins, F. (2005). Nurses and the genomic revolution. Journal of Nursing Scholarship, 37(5), 98-101. Burke, S., & Kirk, M. (2006). Genetic education in the nursing profession: literature review. Journal of Advanced Nursing. 54(2), 228-237. the need to incorporate genetics into nursing curricula. The students will also be utilizing the following websites:  – This will demonstrate the history of


(website for the International Society of Nurses in Genetics, a leading

authority on genetic/genomic nursing and education)  Education in Genetics) Conclusion A recent article in Cancer Nursing Practice summarized the urgent need for nurse educators to tackle the competency deficit caused by the lack of solid nursing education in the area of genetics/genomics (Duffy & Berry, 2011). Essential nursing competencies for genetics/genomics have been established to set the standards, but it is now higher education‟s responsibility to revise the curricula to include these standards. A dedicated genetics course at the senior level of a baccalaureate nursing program, such as the course described in this paper, would serve to advance the practice of nursing in the 21st century. (website for the National Coalition of Health Professional

GENETICS/GENOMICS IN NURSING AND HEALTH CARE References American Association of Colleges of Nursing. (2009, April). Standard for accreditation of baccalaureate and graduate degree nursing programs (Educational Standards). Retrieved from American Association of Colleges of Nursing:


Billings, D. M., & Halstead, J. A. (2012). Teaching in nursing: a Guide for faculty (4th ed.). St. Louis, MO: Saunders. Burke, S., & Kirk, M. (2006). Genetics education in the nursing profession :literature review. Journal of Advanced Nursing, 228-237. Calzone, K. A., Jenkins, J., Prows, C. A., & Masny, A. (2011, May-June). Establishing the outcome indicators for the essential nursing competencies and curricula guidelines for genetics and genomics. Journal of Professional Nursing, 27(3), 179-191. doi: 10.1016/j.profnurs.2011.01.001 Cincinnati Children‟s Hospital Medical Center. (n.d.). Genetics education program for nurses (White Paper). Retrieved from Cinncinati Children‟s Hospital Medical Center: Committee on the Robert Wood Johnson Foundation Initiative on the future of nursing, at the Institute of Medicine. (2011). The future of nursing: Leading change, advancing health Washington, D.C.: The National Academies Press. Duffy, C., & Berry, L. (2011, February). Call to include genetics in degree courses. Cancer Nursing Practice, 11(1), 5. Healthy People 2020. (2010). What’s new for 2020: Focus on determinants of health: Genomics (White Paper). Retrieved from

GENETICS/GENOMICS IN NURSING AND HEALTH CARE Hetteberg, C., & Prows, C. (2004, March/April). A checklist to assist in the integration of genetics into nursing curricula. Nursing Outlook, 52(2), 85-88. doi: 10.1016/j.outlook.2004.01.007 Jenkins, J., & Calzone, K. A. (2007, First Quarter). Establishing the essential nursing


competencies for genetics and genomics. Journal of Nursing Scholarship, 39(1), 10-16. National Council of State Boards of Nursing. (2010, April). 2010 NCLEX-RN detailed test plan (White Paper). Retrieved from NCSBN : Read, C. Y., Dylis, A. M., Mott, S. R., & Fairchild, N. J. (2004, August). Promoting integration of genetics core competencies into entry-level nursing curricula. Journal of Nursing Education, 43(8), 376-380.