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JHNXXX10.1177/0898010115587401Journal of Holistic NursingGeneticsGenetics/Genomics / Sharoff
1
Education
Holistic Nursing in the Genetic/Genomic Era
jhn
research-article2015
Journal of Holistic Nursing American Holistic Nurses Association Volume XX Number X XXXX 201X 1–8 © The Author(s) 2015 10.1177/0898010115587401 http://jhn.sagepub.com
Leighsa Sharoff, EdD, RN, NPP, AHN-BC
City University of New York at Hunter College, New York
Holistic nursing practice is an ever-evolving transformative process with core values that require continued growth, professional leadership, and advocacy. Holistic nurses are required to stay current with all new required competencies, such as the Core Competencies in Genetics for Health Professional, and, as such, be adept at translating scientific evidence relating to genetics/genomics in the clinical setting. Knowledge of genetics/genomics in relation to nursing practice, policy, utilization, and research influence nurses’ responsibilities. In addition to holistic nursing competencies, the holistic nurse must have basic knowledge and skills to integrate genetics/genomics aspects. It is important for holistic nurses to enhance their overall knowledge foundation, skills, and attitudes about genetics to prepare for the transformation in health care that is already underway. Holistic nurses can provide an important perspective to the application of genetics and genomics, focusing on health promotion, caring, and understanding the relationship between caring and families, community, and society. Yet there may be a lack of genetic and genomic knowledge to fully participate in the current genomic era. This article will explore the required core competencies for all health care professionals, share linkage of holistic nurses in practice with genetic/genomic conditions, and provide resources to further one’s knowledge base. Keywords: genetics; genomics; holistic nursing; holistic nursing practice
Holistic nurses are a unique group of skilled health care professionals who work in all areas of health care. It is important that nurses, who integrate holistic nursing, keep abreast of all required health professionals’ competencies. The most current transformation in health care within the last several decades has been the study of the human genome as part of the Human Genome Project, which was completed in April 2003. The Human Genome Project was an international, collaborative research program whose goal was the complete mapping and understanding of all human genes, together known as “our genome” (National Human Genome Research Institute [NHGRI], n.d.). Genetics is the study of inheritance and variation while genomics is the study of the structure and function of the genome and its interactions with the environment. The exponential expansion of our understanding of genetics and genomics is transforming medicine,
nursing/holistic nursing, and health care as a whole. The National Coalition for Health Professional Education in Genetics (NCHPEG) developed the Core Competencies in Genetics for Health Professionals in order to encourage clinicians and other professionals to integrate genetics knowledge, skills, and attitudes into routine health care, thereby providing effective and comprehensive services to individuals and families (NCHPEG, 2007). The NCHPEG is a nonprofit organization whose mission is to “promote the education of health professionals and to provide access to information about advances in human genetics to improve the health care of the nation” (p. 3). “Nurses need to be able to deliver Author’s Note: Please address correspondence to Leighsa Sharoff, EdD, RN, NPP, AHN-BC, City University of New York at Hunter College, 425 East 25th Street, Room 410, New York, NY 10010, USA; e-mail: [email protected].
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holistic care that incorporate knowledge and skills about genetics and genomics and the spectrum of its effect on health, well-being and lifestyle” (Kirk & Marshallsay, 2013, p. 42). The purpose of this article is to discuss the integration of the holistic nurses’ knowledge, skills, and attitudes when caring for patients and families who are affected by genomically based conditions and to explore learning opportunities to enhance the holistic nurses’ knowledge base in genetics and genomics. The complexity of living with a genetic condition and providing physical, emotional, spiritual, and cultural support while providing educational and referral guidance will vary depending on the individual life stage of the patient and family involved. The needs of patients diagnosed with a genetic disorder will require nursing support throughout the life span. Thus, knowing and being able to integrate the core competencies of genetics are essential for all practicing nurses. For holistic nurses, this is truly a natural progression, as holistic nurses already develop therapeutic relationships built on trust and positive intention, honor transitional phases of clients, and are active listeners. More important, holistic nurses know that complementary/alternative care is as warranted as medical care. However, holistic nursing must enhance its overall knowledge foundation, skills, and attitude about genetics and genomics to prepare for the transformation in health care that is already under way. It is imperative for holistic nurses to remain at the forefront of health care and, as such, meet and incorporate these competencies. Holistic nurses working in the transformative genomic era are central to the continued participation in the healing–caring spectrum. Holistic nursing embraces all nursing that has the enhancement of healing the whole person from birth to death—and all age-groups from infant to elder—as its goal. This means viewing the whole person and his or her needs in their entirety with integration as the goal. The holistic nurse creates a caring healing space within herself/himself that allows the nurse to be an instrument of healing; shares authenticity of unconditional presence that helps remove the barriers to the healing process; facilitates another person’s growth (body–mind– emotion–spirit–energetic–environment connections); and assists with maintaining wellness, recovery from illness, or transition to peaceful
death. (Erickson, Erickson, Sandor, & Brekke, 2013, p. 310)
Genetics/Genomics Genetic and genomic science is redefining the understanding of the continuum of human health and illness. The required competency of providing essential information, support, guidance, and education pertaining to genetic conditions is expected for all levels of heath care professionals, from initial prelicensure preparation to practicing professionals. Holistic nurses will need this knowledge to provide appropriate care, explanations of genetic conditions, and referrals to patients. The application and integration of genomic information represent numerous areas for nursing involvement. As we begin to integrate genomic information, holistic nurses will have to have the knowledge for evidence-based application of genomics. Holistic nurses should be able to “facilitate the genetic-counseling process and prepare clients and families for what to expect, communicate relevant information to the genetics team, and follow up with the client after genetic services have been provided” (NCHPEG, 2007, p. 7). The art and science of holistic nursing practice is an ever-evolving transformative process with core values that require continued growth, professional leadership, and advocacy for client’s self-knowledge. As such, holistic nurses are also required to stay current with all new required competencies for health care professionals. However, “nurses’ knowledge of genetics and genomics is not adequate to enable them to offer appropriate genetic healthcare” (Godino & Skirton, 2012, p. 181). Lack of knowledge of genetics and genomics and a lack of confidence in ones’ ability to discuss this topic are obviously major barriers to being able to fully integrate this content into ones’ practice. There is a “large gap” between what nurses actually know and what they need to know in the genetic/genomic age (Collins & Stiles, 2011). Holistic nurses are required to be adept at translating scientific evidence relating to genetics/genomics in the clinical setting by actively participating in the care and education of patients. Knowledge of genetics/genomics in relation to nursing practice, policy, research, knowledge, utilization, and research influences nurses’ responsibilities. The holistic nurse, in addition to holistic nursing professional activities and behaviors, must have basic
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Genetics/Genomics / Sharoff 3
knowledge and skills to integrate genetics/genomics aspects. Understanding genetic testing and screening, pharmacogenomics/pharmacogenetics, and the integration and implications of genetic information on holistic nursing practice, including ethical, legal, and social issues, is necessary. Holistic nurses will be able to bring an important perspective to the application of genetics and genomics, focusing on health promotion, caring, and understanding the relationship between caring and families, community, and society (Calzone et al., 2013). The depth of genetic/ genomic knowledge needed to effectively and efficiently participate in current and future health care requires that holistic nurses continue their advancement of current knowledge in all domains. The needs of patients and their families for holistic nursing care and support is ongoing, with personalized health care at the core. Genetic concepts and their relevance to health, illness, and everyday situations are misunderstood by the general population, including health care professionals (Skirton, O’Connor, & Humphreys, 2012). The Core Competencies in Genetics for Health Professionals ((NCHPEG, 2007) consist of three baseline competencies (the minimum of what each health care professional should be able to do) and three main core competencies (knowledge, skills, and attitudes) relating to what all health care professionals should know (see Table 1). In addition to the core competencies for all health professionals, prominent nursing organizations developed specific documents providing guidelines for the integration of contemporary genetic and genomics knowledge related to nursing (Kirk, Calzone, Arimori, & Tonkin, 2011). These additional documents define essential genetic and genomic competencies specifically for all registered nurses, including baccalaureate and graduate levels (see Table 2).
Linking Genetics/Genomics to Holistic Nurses in Practice Holistic nurses can profoundly add to their patients’ well-being by being just who they are and by making a significant contribution to patients and families with the care they give. By adding the genetic/genomic knowledge to their repertoire, holistic nurses will be able to offer an even more profound connection to their patients’ wellness, through providing explanations such as the difference
between clinical diagnosis of disease and identification of genetic predisposition to disease. Genetics and genomics content touches on numerous nursing areas, including but not limited to pediatrics, cancer care, pharmacology, medical–surgical care, obstetrics and newborn care, and neuropsychiatric care. For holistic nurses to be fully prepared to provide genetic/genomic information, they need to realize the potential effect of genetics at different stages in a patients’ life. Holistic nurses, including midwives, need to be aware that mandatory newborn screening touches on preconception, antenatal and perinatal nursing, and neonatal nursing and requires long-term followup nursing care. The clinical relevance of newborn screening is related to public health care with the ability to identify rare and treatable conditions in early infancy (DeLuca, Zanni, Bonhomme, & Kemper, 2013). During the preconception period, testing for carrier status in prospective parents (Kirk & Marshallsay, 2013) and educating expectant parents about screening tests and the possibility of retesting are necessary to prepare parents for the critical period. In the antenatal period (before birth occurs), screening and testing for inherited conditions, testing for carrier status and a possible diagnosis of an affected fetus, and management of women with genetic conditions, including learning disability, need to be considered (Kirk & Marshallsay, 2013). Every pregnancy, regardless of maternal health, parental age, or family history, has a 3% baseline risk for a congenital abnormality detectable during the perinatal period (3-5 months before birth and up to the 28th day of newborn life; Schaaf, Zschocke, & Potocki, 2012). Major disorders that are detected by newborn screening include phenylketonuria, maple syrup urine disease, and galactosemia (Schaaf et al., 2012). Congenital hearing loss and critical congenital heart defects are based on physiological tests and can be screened for prior to discharge (DeLuca et al., 2013). During the neonatal period, screening and testing for inherited conditions and a possible diagnosis of a genetic condition (knowing that an infant may be asymptomatic at diagnosis) are when a holistic nurse can provide tremendous support and education as specialty care may be needed for long-term follow-up (Kirk & Marshallsay, 2013). Multiprofessional teams, including nurses, geneticists, nutritionists, and genetic counselors, are required for complex conditions,
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4 Journal of Holistic Nursing / Vol. XX, No. X, Month XXXX Table 1. Core Competencies for All Health Professionals Baseline competencies: At a minimum, each health care professional should be able to a. examine one’s competence of practice on a regular basis, identifying areas of strength and areas where professional development related to genetics and genomics would be beneficial. b. understand that health-related genetic information can have important social and psychological implications for individuals and families. c. know how and when to make a referral to a genetics professional. Knowledge: All health professionals should understand 1.1. basic human genetics terminology. 1.2. the basic patterns of biological inheritance and variation, both within families and within populations. 1.3. how identification of disease-associated genetic variations facilitates development of prevention, diagnosis, and treatment options. 1.4. the importance of family history (minimum three generations) in assessing predisposition to disease. 1.5. the interaction of genetic, environmental, and behavioral factors in predisposition to disease, onset of disease, response to treatment, and maintenance of health. 1.6. the difference between clinical diagnosis of disease and identification of genetic predisposition to disease (genetic variation is not strictly correlated with disease manifestation). 1.7. the various factors that influence the client’s ability to use genetic information and services, for example, ethnicity, culture, related health beliefs, ability to pay, and health literacy. 1.8. the potential physical and/or psychosocial benefits, limitations, and risks of genetic information for individuals, family members, and communities. 1.9. the resources available to assist clients seeking genetic information or services, including the types of genetics professionals available and their diverse responsibilities. 1.10. the ethical, legal, and social issues related to genetic testing and recording of genetic information (e.g., privacy, the potential for genetic discrimination in health insurance, and employment). 1.11. one’s professional role in the referral to or provision of genetics services, and in follow-up for those services. Skills: All health professionals should be able to 2.1. gather genetic family history information, including at minimum a three-generation history. 2.2. identify and refer clients who might benefit from genetic services or from consultation with other professionals for management of issues related to a genetic diagnosis. 2.3. explain effectively the reasons for and benefits of genetic services. 2.4. use information technology to obtain credible, current information about genetics. 2.5. assure that the informed-consent process for genetic testing includes appropriate information about the potential risks, benefits, and limitations of the test in question. Attitudes: All health professionals should 3.1. appreciate the sensitivity of genetic information and the need for privacy and confidentiality. 3.2. seek coordination and collaboration with an interdisciplinary team of health professionals. Source: National Coalition for Health Professional Education in Genetics (2007).
such as Down syndrome (DS), Turner syndrome, neonatal hypotonia, congenital hypothyroidism, congenital adrenal hyperplasia, and congenital heart defects. Chronic disease management with condition-specific treatment and age-appropriate care is another aspect where the holistic nurse can provide essential support and guidance to the patient and family members involved. For example, when working with a family of a newborn recently diagnosed with DS, based on the core competencies (Table 1), the holistic nurse should be able to provide that family with biological inheritance and variation information by providing information on the type of DS their child has (Table 1: Knowledge 1.2: Trisomy
21 (nondisjunction), translocation, or mosaicism). In addition, the nurse should be able to coordinate and seek referrals for this family, with an interdisciplinary team of health professionals, for management of certain medical conditions such as congenital heart defects, respiratory and hearing problems, childhood leukemia, and thyroid conditions, as children with DS are at a higher risk for these complications (Table 1: Knowledge 11.1, Skills 1.1, and Attitudes 3.2; National Down Syndrome Society [http://www.ndss.org/]). Holistic nurses have an important role in working with families who have children diagnosed with a genetic condition, facilitating access to appropriate
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Genetics/Genomics / Sharoff 5 Table 2. Genetic and Genomics Nursing Documents “Core Competencies in Genetics for Health Professionals” “Essentials of Genetic and Genomic Nursing: Competences, Curricula Guidelines, and Outcome Indicators” “Essentials of Baccalaureate Education for Professional Nursing Practice” “Essential Genetic and Genomic Competencies for Nurses With Graduate Degrees” “Bringing Science to Life: NNR Strategic Plan”
National Coalition for Health Professional Education in Genetics, 2007 Consensus Panel on Genetic/Genomic Nursing Competencies, 2009 American Association of Colleges of Nursing, 2008 Consensus Panel on Genetic/Genomic Nursing and the American Nurses Association, 2011 National Institute for Nursing Research, 2011
services and resources, preparing families for the evaluation, and providing support and a personalized caring–healing presence (Prows, Hopkin, Barnoy, & Riper, 2013). Children born with DS, achondroplasia (a type of short-limbed dwarfism, an example of autosomal dominant disorder), or sickle-cell anemia or cystic fibrosis (both autosomal recessive conditions) will require long-term specialty care. Another condition that requires holistic nurses to have a strong presence with family support is autism spectrum disorder (ASD), which is a collective term for pervasive neurodevelopmental conditions characterized by atypical development in socialization, communication, and behavior (American Psychiatric Association, 2000). Genetically, ASD can develop due to specific gene mutations (on chromosomes 2, 3, 15, 16, 17, and 22), as de novo, as part of a syndrome and/or medical conditions (e.g., fragile X syndrome, Rett syndrome, and tuberous sclerosis) and epigenetic factors, including antenatal/perinatal factors (Johnson, Giarelli, Lewis, & Rice, 2013). ASD is a highly complex condition, and holistic nurses are equipped to be active listeners to parents’ needs and advocate for their patient/family while promoting psychological and social support. Holistic nurses, building on that open relationship, can provide comfort as they participate in the healing–caring process of child, parents, and family (Table 1: Attitude 3.1). For adolescents, testing for early-onset adult conditions and transition to adult services is a necessary part of continued holistic care (Kirk & Marshallsay, 2013). Personalized care for patients with neuropsychiatric disorders, which can cross the life span, ranges from autism to age-related irreversible dementias, including Alzheimer disease, which is the most common cause of irreversible dementia (Schutte, Davies, & Goris, 2013).
http://www.nchpeg.org/index. php?option=com_content&view=article& id=237&Itemid=84 http://www.genome.gov/pages/careers/ healthprofessionaleducation/geneticscompetency.pdf http://www.aacn.nche.edu/educationresources/BaccEssentials08.pdf http://www.genome.gov/Pages/Health/ HealthCareProvidersInfo/Grad_Gen_ Comp.pdf https://www.ninr.nih.gov/sites/www.ninr. nih.gov/files/ninr-strategic-plan-2011.pdf
Holistic nurses providing cancer care, to both children and adults, can educate their patients and families about genetic-genomic advances and advocate for the integration of evidence-based geneticgenomic practice procedures to lessen cancer risk and improve cancer management outcomes (Santos et al., 2013). Personalized care, a cornerstone of holistic nursing, should be present in all health care practices. With cancer care, personalized treatment of patients with, for example, HER2-positive breast cancer, colon cancer, Lynch syndrome, and any form of leukemia requires nurses to “be aware of developments in genetics-genomics and its impact on risk assessment, prevention, diagnosis and management, thus, improve the health, quality of life and safety of their patients” (Santos et al., 2013, p. 50). In addition, all nurses need to be aware of pharmacogenomics, which is the study of how genomic factors and acquired mutations in tumors determine a person’s response or toxicity to drugs, which directly affects personalized health care (Santos et al., 2013). Holistic nurses work in all health care settings, providing synchronous person-centered care and facilitating health, healing, and wellness integration composed of multiple interactive dimensions (Erickson et al., 2013). The holistic nurse needs to be aware of the implications related to the ethical, legal, social, physical, and psychological repercussions in caring for individuals with genetic conditions (Table 1: Knowledge 1.10). The American Nurses Association’s (2015) Code of Ethics for Nurses With Interpretive Statements is a guide for carrying out nursing responsibilities in a manner consistent with quality in nursing care and the ethical obligations of the profession, providing a framework for nurses as they respond to modifications in science, which will
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result in changes in how they practice (Badzek & Monsen, 2013). The impact on practice is rapidly evolving, and the “emerging ethical, legal and social issues, including but not limited to confidentiality, decision-making capacity, informed consent, genetic testing, and research are necessary to ensure the provision of appropriate and equitable health care” (Badzek & Monsen, 2013, p. 22; Table 1: Skills 2.5).
Learning Opportunities All nurses, including holistic nurse, are expected to continue their learning. There are several learning opportunities for nurse to gain genetic/genomic knowledge. Courses such as the Summer Genetics Institute offered by the National Institute of Nursing Research provide the knowledge and skills required to bring this competency to undergraduate (and graduate) education. Duke University/Duke Center for Human Genetics offers free online course material. Cincinnati Children’s Hospital, Genetics Education Program/Web-Based Genetics Education Institute, provides several comprehensive resources for continued genetic/genomic education. These programs and numerous online resources provide nurses with an array of genetic/genomic learning opportunities to foster an enhanced understanding of this content. In addition to these resources, holistic nurses can visit websites such as TellingStories: Understanding Real Life Genetics from the National Health Services/National Genetics and Genomics Education Center, which provides real people sharing their real-life stories of having a genetic condition, linking the concept of theory to practice. These stories share what genetics is really about, its impact on individuals and their families, and what it is to “live with” a genetic condition, and assist health care professionals in understanding their situation. In addition, the University of Kansas Medical Center offers free clinical genetic education resources. The National Institutes of Health/NHGRI provides an enormous amount of information and resources for all health care professionals. As the holistic nurses’ confidence increases with their genetic/genomic knowledge and skill, they will be better equipped to provide their patients with essential genetic/genomic information and resources. As a program of study, the nurse should begin with the foundation to genetics and genomics, by exploring Cincinnati Children’s Hospital/
Genetic Education Program and National Institutes of Health/NHGRI websites, which will provide a solid base to genetics/genomics content. Then, based on the nurses’ expertise and practice setting, exploring websites such as the National Newborn Screening and Genetics Resource Center, Cancer Genetics, and/or Public Health Genomics can offer specific genetic/genomic content to complement their overall nursing knowledge. Nurses should acquire and maintain competency in genetics and genomics, at their defined skill level, in the ethical and legal landscape (Badzek & Monsen, 2013). The Genetics/ Genomics Competency Center for Education and the G3C: Global Genetics and Genomics Community websites offer numerous learning opportunities to integrate the core competencies into one’s practice. Finally, the professional organization, International Society of Nurses in Genetics, provides a wellrounded overview of resources and knowledge of human genetics for the nurse to integrate into his or her nursing practice, education, and research activities. By exploring these learning opportunities, the holistic nurse will become more equipped to integrate the core competencies as outlined in Table 1. For additional resources see Table 3.
Conclusion All nurses need to be able to provide holistic care that incorporates knowledge and skills about genetics and genomics and the spectrum of its effect on health, well-being, and lifestyle (Kirk & Marshallsay, 2013). Holistic nurses already have the knowledge and ability to integrate person-centered holistic care; we just now need to make certain we can incorporate genetic/genomic knowledge. Addressing concerns patients may have and providing psychosocial support and counseling to patients and families is foundational in holistic nursing. High-quality person-centered evidence-based practice, with an emphasis on the client perceptions and creating that energetic field of interconnectedness between nurse and client, is an all-encompassing healing–caring process (Erickson et al., 2013). With the inclusion of genetic and genomic knowledge, holistic nurses will be able to provide the public with the necessary information and resources needed to adequately navigate through this evolving health care science. The clinical relevance requires a broad knowledge of genetic/genomic competency, staying abreast of
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Genetics/Genomics / Sharoff 7 Table 3. Learning Opportunities for the Holistic Nurse in Genetics/Genomics Resources Cincinnati Children’s Hospital: Genetic Education Program National Institutes of Health: National Human Genome Research Institute
Genetic Home Reference
Talking Glossary of Genetic Terms
Online Mendelian Inheritance in Man National Newborn Screening and Genetics Resource Center Cancer Genetics
Public Health Genomics
My Family Health Portrait Genetic Counseling Cultural Competence Toolkit Genetics and Genomics Competency Center G3C
“Recommendations for Standardized Human Pedigree Nomenclature” International Society of Nurses in Genetics
Foundational Information http://www.cincinnatichildrens.org/education/clinical/nursing/genetics/default/: Provides access to continuing education, helps nurses meet genetic and genomic nursing competencies, and offers instructional resources to help nursing faculty add genetics and genomics content to their curricula http://www.genome.gov/: Provides educational materials about genetics and genomics; information and links about policy, legal, and ethical issues in genetics research; and information about genetics and genomics for patients as well as for health professionals http://www.genome.gov/HealthProfessionals/: Provides top resources for health professionals http://www.genome.gov/17515679: Provides archived articles (for historical reference) relating to genetics and genomics in nursing http://ghr.nlm.nih.gov/: National Library of Medicine produced this site to provide consumer-friendly information about the effects of genetic variations on human health; an illustrated handbook provides basic information about genetics; other sections of the site provide succinct overviews of over 800 genes and the genetics of over 500 conditions; a glossary and links to other resources are also available http://www.genome.gov/glossary/index.cfm: NHGRI created the Talking Glossary of Genetic Terms to help everyone understand the terms and concepts used in genetic research; in addition to definitions, specialists in the field of genetics share their descriptions of terms; many terms include images, animation, and links to related terms http://www.ncbi.nlm.nih.gov/omim: A comprehensive, authoritative compendium of human genes and genetic phenotypes Specific to Practice Setting/Expertise http://genes-r-us.uthscsa.edu/: Provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers, and government officials http://www.cancer.gov/cancertopics/genetics: The National Cancer Institute provides expert reviewed information about the genetics of various types of cancer; risk assessment tools for various types of cancer can also be found at this site http://www.cdc.gov/genomics/default.htm: This Centers for Disease Control and Prevention website serves as “a credible source for information on the appropriate role and importance of genomics in disease prevention and health promotion” https://familyhistory.hhs.gov/FHH/html/index.html: Is the Web-based tool from NHGRI and the U.S. Surgeon General’s Family History Initiative that helps you create your own family health history http://www.geneticcounselingtoolkit.com/default.htm: Immersion in these topics can result in a better appreciation of how genetic counseling is inherently grounded in principles of culturally competent health care Ethical, Legal, and Social Implications http://g-2-c-2.org/: Offers peer-reviewed educational resources on genetics/genomics topics for all health care educators and practitioners http://g-3-c.org/en: Is a learning portal presenting a collection of interactive cases that demonstrate how genetics and genomics link to health and illness; G3C is free to all users and encourages students and practicing health care providers to address the multidimensional needs of patients through various self-guided, videotaped “patient-provider” interview simulations Additional Resources http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801187/pdf/ajhg00029-0198.pdf: Bennett et al. (1995) http://isong.org/: A global nursing specialty organization dedicated to genomic health care, education, research, and scholarship
Note: NHGRI = National Human Genome Research Institute; G3C = Global Genetics and Genomics Community.
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genetic/genomic technology and being able to integrate genetic/genomic information through informed comprehensive nursing practice. Understanding not only the epigenetics aspect but also the inheritance pattern of genetic conditions provides the holistic nurse with a broader ability to assist patients in their lifestyle choices. “Genetics is not destiny”; it is a “gene expression that can be turned on or off by nutritional choices, levels of social support, stress reduction activities, such as meditation, and exercise” (Mariano, 2013, p. 97). Who better than the holistic nurse to be integral in this care.
References American Nurses Association. (2015). Code of ethics for nurses with interpretive statements. Silver Spring, MD: Author. Retrieved from http://www.nursingworld.org/ MainMenuCategories/EthicsStandards/CodeofEthics forNurses/Code-of-Ethics-For-Nurses.html American Psychiatric Association. (2000). Diagnostic and statistical manual of mental disorders (4th ed., text rev.). Washington, DC: Author. Badzek, L., & Monsen, R. (2013). Ethical, legal, and social issues in the translation of genomics into healthcare. Journal of Nursing Scholarship, 45, 15-24. Bennett, R., Steinhaus, K., Uhrich, S., O’Sullivan, C., Resta, R., Lochner-Doyle, D., . . .Hamanishi, J. (1995). Recommendations for standardized human pedigree nomenclature. American Journal of Human Genetics, 56, 745-752. Retrieved from http://www.ncbi.nlm.nih.gov/ pmc/articles/PMC1801187/pdf/ajhg00029-0198.pdf Calzone, K., Jenkins, J., Nicol, N., Skirton, H., Feero, W., & Green, E. (2013). Relevance of genomics to healthcare and nursing practice. Journal of Nursing Scholarship, 45, 1-2. Collins, C., & Stiles, A. (2011). Predictors of student outcomes on perceived knowledge and competence of genetic family history risk assessment. Journal of Professional Nursing, 27, 101-107. DeLuca, J., Zanni, K., Bonhomme, N., & Kemper, A. (2013). Implications of newborn screening for nurses. Journal of Nursing Scholarship, 45, 25-33. Erickson, H., Erickson, M., Sandor, M. K., & Brekke, M. (2013). The holistic worldview in action: Evolution of holistic nurses certification programs. Journal of Holistic Nursing, 31, 303-313.
Godino, L., & Skirton, H. (2012). A systematic review of nurses’ knowledge of genetics. Journal of Nursing Education and Practice, 2, 173-184. Johnson, N., Giarelli, E., Lewis, C., & Rice, C. (2013). Genomics and autism spectrum disorder. Journal of Nursing Scholarship, 45, 69-78. Kirk, M., Calzone, K., Arimori, N., & Tonkin, E. (2011). Genetics-genomics competencies and nursing regulation. Journal of Nursing Scholarship, 43, 107-116. Kirk, M., & Marshallsay, M. (2013). Providing nursing care and support to individuals and families with genetic/genomics healthcare needs. Nursing Standard, 28(16-18), 39-46. Mariano, C. (2013). Health care in the United States. In B. Dossey & L. Keegan (Eds.), Holistic nursing: A handbook for practice (pp. 85-106). Burlington, MA: Jones & Bartlett Learning. National Coalition for Health Professional Education in Genetics. (2007). Core competencies in genetics essential for all health-care professionals (3rd ed.). Retrieved from http://www.nchpeg.org/index.php?option=com_content &view=article&id=237:core-competencies-for-all-healthprofessionals-2007&catid=50:core-competencies-for-allhealth-care-professionals-2007&Itemid=84 National Human Genome Research Institute. (n.d.). An overview of the human genome project. Retrieved from http://www.genome.gov/12011238 Prows, C., Hopkin, R., Barnoy, S., & Riper, M. (2013). An update of childhood genetic disorders. Journal of Nursing Scholarship, 45, 34-42. Santos, E., Edwards, Q., Floria-Santos, M., Rogatto, S., Achatz, M., & MacDonald, D. (2013). Integration of genomics in cancer care. Journal of Nursing Scholarship, 45, 43-51. Schaaf, C., Zschocke, J., & Potocki, L. (2012). Human genetics: From molecules to medicine. New York, NY: Lippincott Williams & Wilkins. Schutte, D., Davies, M., & Goris, E. (2013). The implications of genomics on the nursing care of adults with neuropsychiatric conditions. Journal of Nursing Scholarship, 45, 79-88. Skirton, H., O’Connor, A., & Humphreys, A. (2012). Nurses’ competence in genetics: A mixed method systematic review. Journal of Advanced Nursing, 68, 2387-2398. Leighsa Sharoff, EdD, RN, NPP, AHN-BC, is an Associate Professor and Simulation Coordinator at the City University of New York at Hunter College School of Nursing. She is an advanced certified holistic nurse as well as a psychiatric nurse practitioner. Dr. Sharoff is an experienced holistic nurse educator and researcher who incorporates a holistic nursing philosophy to teaching.
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JHNXXX10.1177/0898010115587401Journal of Holistic NursingGeneticsGenetics/Genomics / Sharoff
1
Education
Holistic Nursing in the Genetic/Genomic Era
jhn
research-article2015
Journal of Holistic Nursing American Holistic Nurses Association Volume XX Number X XXXX 201X 1–8 © The Author(s) 2015 10.1177/0898010115587401 http://jhn.sagepub.com
Leighsa Sharoff, EdD, RN, NPP, AHN-BC
City University of New York at Hunter College, New York
Holistic nursing practice is an ever-evolving transformative process with core values that require continued growth, professional leadership, and advocacy. Holistic nurses are required to stay current with all new required competencies, such as the Core Competencies in Genetics for Health Professional, and, as such, be adept at translating scientific evidence relating to genetics/genomics in the clinical setting. Knowledge of genetics/genomics in relation to nursing practice, policy, utilization, and research influence nurses’ responsibilities. In addition to holistic nursing competencies, the holistic nurse must have basic knowledge and skills to integrate genetics/genomics aspects. It is important for holistic nurses to enhance their overall knowledge foundation, skills, and attitudes about genetics to prepare for the transformation in health care that is already underway. Holistic nurses can provide an important perspective to the application of genetics and genomics, focusing on health promotion, caring, and understanding the relationship between caring and families, community, and society. Yet there may be a lack of genetic and genomic knowledge to fully participate in the current genomic era. This article will explore the required core competencies for all health care professionals, share linkage of holistic nurses in practice with genetic/genomic conditions, and provide resources to further one’s knowledge base. Keywords: genetics; genomics; holistic nursing; holistic nursing practice
Holistic nurses are a unique group of skilled health care professionals who work in all areas of health care. It is important that nurses, who integrate holistic nursing, keep abreast of all required health professionals’ competencies. The most current transformation in health care within the last several decades has been the study of the human genome as part of the Human Genome Project, which was completed in April 2003. The Human Genome Project was an international, collaborative research program whose goal was the complete mapping and understanding of all human genes, together known as “our genome” (National Human Genome Research Institute [NHGRI], n.d.). Genetics is the study of inheritance and variation while genomics is the study of the structure and function of the genome and its interactions with the environment. The exponential expansion of our understanding of genetics and genomics is transforming medicine,
nursing/holistic nursing, and health care as a whole. The National Coalition for Health Professional Education in Genetics (NCHPEG) developed the Core Competencies in Genetics for Health Professionals in order to encourage clinicians and other professionals to integrate genetics knowledge, skills, and attitudes into routine health care, thereby providing effective and comprehensive services to individuals and families (NCHPEG, 2007). The NCHPEG is a nonprofit organization whose mission is to “promote the education of health professionals and to provide access to information about advances in human genetics to improve the health care of the nation” (p. 3). “Nurses need to be able to deliver Author’s Note: Please address correspondence to Leighsa Sharoff, EdD, RN, NPP, AHN-BC, City University of New York at Hunter College, 425 East 25th Street, Room 410, New York, NY 10010, USA; e-mail: [email protected].
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holistic care that incorporate knowledge and skills about genetics and genomics and the spectrum of its effect on health, well-being and lifestyle” (Kirk & Marshallsay, 2013, p. 42). The purpose of this article is to discuss the integration of the holistic nurses’ knowledge, skills, and attitudes when caring for patients and families who are affected by genomically based conditions and to explore learning opportunities to enhance the holistic nurses’ knowledge base in genetics and genomics. The complexity of living with a genetic condition and providing physical, emotional, spiritual, and cultural support while providing educational and referral guidance will vary depending on the individual life stage of the patient and family involved. The needs of patients diagnosed with a genetic disorder will require nursing support throughout the life span. Thus, knowing and being able to integrate the core competencies of genetics are essential for all practicing nurses. For holistic nurses, this is truly a natural progression, as holistic nurses already develop therapeutic relationships built on trust and positive intention, honor transitional phases of clients, and are active listeners. More important, holistic nurses know that complementary/alternative care is as warranted as medical care. However, holistic nursing must enhance its overall knowledge foundation, skills, and attitude about genetics and genomics to prepare for the transformation in health care that is already under way. It is imperative for holistic nurses to remain at the forefront of health care and, as such, meet and incorporate these competencies. Holistic nurses working in the transformative genomic era are central to the continued participation in the healing–caring spectrum. Holistic nursing embraces all nursing that has the enhancement of healing the whole person from birth to death—and all age-groups from infant to elder—as its goal. This means viewing the whole person and his or her needs in their entirety with integration as the goal. The holistic nurse creates a caring healing space within herself/himself that allows the nurse to be an instrument of healing; shares authenticity of unconditional presence that helps remove the barriers to the healing process; facilitates another person’s growth (body–mind– emotion–spirit–energetic–environment connections); and assists with maintaining wellness, recovery from illness, or transition to peaceful
death. (Erickson, Erickson, Sandor, & Brekke, 2013, p. 310)
Genetics/Genomics Genetic and genomic science is redefining the understanding of the continuum of human health and illness. The required competency of providing essential information, support, guidance, and education pertaining to genetic conditions is expected for all levels of heath care professionals, from initial prelicensure preparation to practicing professionals. Holistic nurses will need this knowledge to provide appropriate care, explanations of genetic conditions, and referrals to patients. The application and integration of genomic information represent numerous areas for nursing involvement. As we begin to integrate genomic information, holistic nurses will have to have the knowledge for evidence-based application of genomics. Holistic nurses should be able to “facilitate the genetic-counseling process and prepare clients and families for what to expect, communicate relevant information to the genetics team, and follow up with the client after genetic services have been provided” (NCHPEG, 2007, p. 7). The art and science of holistic nursing practice is an ever-evolving transformative process with core values that require continued growth, professional leadership, and advocacy for client’s self-knowledge. As such, holistic nurses are also required to stay current with all new required competencies for health care professionals. However, “nurses’ knowledge of genetics and genomics is not adequate to enable them to offer appropriate genetic healthcare” (Godino & Skirton, 2012, p. 181). Lack of knowledge of genetics and genomics and a lack of confidence in ones’ ability to discuss this topic are obviously major barriers to being able to fully integrate this content into ones’ practice. There is a “large gap” between what nurses actually know and what they need to know in the genetic/genomic age (Collins & Stiles, 2011). Holistic nurses are required to be adept at translating scientific evidence relating to genetics/genomics in the clinical setting by actively participating in the care and education of patients. Knowledge of genetics/genomics in relation to nursing practice, policy, research, knowledge, utilization, and research influences nurses’ responsibilities. The holistic nurse, in addition to holistic nursing professional activities and behaviors, must have basic
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Genetics/Genomics / Sharoff 3
knowledge and skills to integrate genetics/genomics aspects. Understanding genetic testing and screening, pharmacogenomics/pharmacogenetics, and the integration and implications of genetic information on holistic nursing practice, including ethical, legal, and social issues, is necessary. Holistic nurses will be able to bring an important perspective to the application of genetics and genomics, focusing on health promotion, caring, and understanding the relationship between caring and families, community, and society (Calzone et al., 2013). The depth of genetic/ genomic knowledge needed to effectively and efficiently participate in current and future health care requires that holistic nurses continue their advancement of current knowledge in all domains. The needs of patients and their families for holistic nursing care and support is ongoing, with personalized health care at the core. Genetic concepts and their relevance to health, illness, and everyday situations are misunderstood by the general population, including health care professionals (Skirton, O’Connor, & Humphreys, 2012). The Core Competencies in Genetics for Health Professionals ((NCHPEG, 2007) consist of three baseline competencies (the minimum of what each health care professional should be able to do) and three main core competencies (knowledge, skills, and attitudes) relating to what all health care professionals should know (see Table 1). In addition to the core competencies for all health professionals, prominent nursing organizations developed specific documents providing guidelines for the integration of contemporary genetic and genomics knowledge related to nursing (Kirk, Calzone, Arimori, & Tonkin, 2011). These additional documents define essential genetic and genomic competencies specifically for all registered nurses, including baccalaureate and graduate levels (see Table 2).
Linking Genetics/Genomics to Holistic Nurses in Practice Holistic nurses can profoundly add to their patients’ well-being by being just who they are and by making a significant contribution to patients and families with the care they give. By adding the genetic/genomic knowledge to their repertoire, holistic nurses will be able to offer an even more profound connection to their patients’ wellness, through providing explanations such as the difference
between clinical diagnosis of disease and identification of genetic predisposition to disease. Genetics and genomics content touches on numerous nursing areas, including but not limited to pediatrics, cancer care, pharmacology, medical–surgical care, obstetrics and newborn care, and neuropsychiatric care. For holistic nurses to be fully prepared to provide genetic/genomic information, they need to realize the potential effect of genetics at different stages in a patients’ life. Holistic nurses, including midwives, need to be aware that mandatory newborn screening touches on preconception, antenatal and perinatal nursing, and neonatal nursing and requires long-term followup nursing care. The clinical relevance of newborn screening is related to public health care with the ability to identify rare and treatable conditions in early infancy (DeLuca, Zanni, Bonhomme, & Kemper, 2013). During the preconception period, testing for carrier status in prospective parents (Kirk & Marshallsay, 2013) and educating expectant parents about screening tests and the possibility of retesting are necessary to prepare parents for the critical period. In the antenatal period (before birth occurs), screening and testing for inherited conditions, testing for carrier status and a possible diagnosis of an affected fetus, and management of women with genetic conditions, including learning disability, need to be considered (Kirk & Marshallsay, 2013). Every pregnancy, regardless of maternal health, parental age, or family history, has a 3% baseline risk for a congenital abnormality detectable during the perinatal period (3-5 months before birth and up to the 28th day of newborn life; Schaaf, Zschocke, & Potocki, 2012). Major disorders that are detected by newborn screening include phenylketonuria, maple syrup urine disease, and galactosemia (Schaaf et al., 2012). Congenital hearing loss and critical congenital heart defects are based on physiological tests and can be screened for prior to discharge (DeLuca et al., 2013). During the neonatal period, screening and testing for inherited conditions and a possible diagnosis of a genetic condition (knowing that an infant may be asymptomatic at diagnosis) are when a holistic nurse can provide tremendous support and education as specialty care may be needed for long-term follow-up (Kirk & Marshallsay, 2013). Multiprofessional teams, including nurses, geneticists, nutritionists, and genetic counselors, are required for complex conditions,
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4 Journal of Holistic Nursing / Vol. XX, No. X, Month XXXX Table 1. Core Competencies for All Health Professionals Baseline competencies: At a minimum, each health care professional should be able to a. examine one’s competence of practice on a regular basis, identifying areas of strength and areas where professional development related to genetics and genomics would be beneficial. b. understand that health-related genetic information can have important social and psychological implications for individuals and families. c. know how and when to make a referral to a genetics professional. Knowledge: All health professionals should understand 1.1. basic human genetics terminology. 1.2. the basic patterns of biological inheritance and variation, both within families and within populations. 1.3. how identification of disease-associated genetic variations facilitates development of prevention, diagnosis, and treatment options. 1.4. the importance of family history (minimum three generations) in assessing predisposition to disease. 1.5. the interaction of genetic, environmental, and behavioral factors in predisposition to disease, onset of disease, response to treatment, and maintenance of health. 1.6. the difference between clinical diagnosis of disease and identification of genetic predisposition to disease (genetic variation is not strictly correlated with disease manifestation). 1.7. the various factors that influence the client’s ability to use genetic information and services, for example, ethnicity, culture, related health beliefs, ability to pay, and health literacy. 1.8. the potential physical and/or psychosocial benefits, limitations, and risks of genetic information for individuals, family members, and communities. 1.9. the resources available to assist clients seeking genetic information or services, including the types of genetics professionals available and their diverse responsibilities. 1.10. the ethical, legal, and social issues related to genetic testing and recording of genetic information (e.g., privacy, the potential for genetic discrimination in health insurance, and employment). 1.11. one’s professional role in the referral to or provision of genetics services, and in follow-up for those services. Skills: All health professionals should be able to 2.1. gather genetic family history information, including at minimum a three-generation history. 2.2. identify and refer clients who might benefit from genetic services or from consultation with other professionals for management of issues related to a genetic diagnosis. 2.3. explain effectively the reasons for and benefits of genetic services. 2.4. use information technology to obtain credible, current information about genetics. 2.5. assure that the informed-consent process for genetic testing includes appropriate information about the potential risks, benefits, and limitations of the test in question. Attitudes: All health professionals should 3.1. appreciate the sensitivity of genetic information and the need for privacy and confidentiality. 3.2. seek coordination and collaboration with an interdisciplinary team of health professionals. Source: National Coalition for Health Professional Education in Genetics (2007).
such as Down syndrome (DS), Turner syndrome, neonatal hypotonia, congenital hypothyroidism, congenital adrenal hyperplasia, and congenital heart defects. Chronic disease management with condition-specific treatment and age-appropriate care is another aspect where the holistic nurse can provide essential support and guidance to the patient and family members involved. For example, when working with a family of a newborn recently diagnosed with DS, based on the core competencies (Table 1), the holistic nurse should be able to provide that family with biological inheritance and variation information by providing information on the type of DS their child has (Table 1: Knowledge 1.2: Trisomy
21 (nondisjunction), translocation, or mosaicism). In addition, the nurse should be able to coordinate and seek referrals for this family, with an interdisciplinary team of health professionals, for management of certain medical conditions such as congenital heart defects, respiratory and hearing problems, childhood leukemia, and thyroid conditions, as children with DS are at a higher risk for these complications (Table 1: Knowledge 11.1, Skills 1.1, and Attitudes 3.2; National Down Syndrome Society [http://www.ndss.org/]). Holistic nurses have an important role in working with families who have children diagnosed with a genetic condition, facilitating access to appropriate
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Genetics/Genomics / Sharoff 5 Table 2. Genetic and Genomics Nursing Documents “Core Competencies in Genetics for Health Professionals” “Essentials of Genetic and Genomic Nursing: Competences, Curricula Guidelines, and Outcome Indicators” “Essentials of Baccalaureate Education for Professional Nursing Practice” “Essential Genetic and Genomic Competencies for Nurses With Graduate Degrees” “Bringing Science to Life: NNR Strategic Plan”
National Coalition for Health Professional Education in Genetics, 2007 Consensus Panel on Genetic/Genomic Nursing Competencies, 2009 American Association of Colleges of Nursing, 2008 Consensus Panel on Genetic/Genomic Nursing and the American Nurses Association, 2011 National Institute for Nursing Research, 2011
services and resources, preparing families for the evaluation, and providing support and a personalized caring–healing presence (Prows, Hopkin, Barnoy, & Riper, 2013). Children born with DS, achondroplasia (a type of short-limbed dwarfism, an example of autosomal dominant disorder), or sickle-cell anemia or cystic fibrosis (both autosomal recessive conditions) will require long-term specialty care. Another condition that requires holistic nurses to have a strong presence with family support is autism spectrum disorder (ASD), which is a collective term for pervasive neurodevelopmental conditions characterized by atypical development in socialization, communication, and behavior (American Psychiatric Association, 2000). Genetically, ASD can develop due to specific gene mutations (on chromosomes 2, 3, 15, 16, 17, and 22), as de novo, as part of a syndrome and/or medical conditions (e.g., fragile X syndrome, Rett syndrome, and tuberous sclerosis) and epigenetic factors, including antenatal/perinatal factors (Johnson, Giarelli, Lewis, & Rice, 2013). ASD is a highly complex condition, and holistic nurses are equipped to be active listeners to parents’ needs and advocate for their patient/family while promoting psychological and social support. Holistic nurses, building on that open relationship, can provide comfort as they participate in the healing–caring process of child, parents, and family (Table 1: Attitude 3.1). For adolescents, testing for early-onset adult conditions and transition to adult services is a necessary part of continued holistic care (Kirk & Marshallsay, 2013). Personalized care for patients with neuropsychiatric disorders, which can cross the life span, ranges from autism to age-related irreversible dementias, including Alzheimer disease, which is the most common cause of irreversible dementia (Schutte, Davies, & Goris, 2013).
http://www.nchpeg.org/index. php?option=com_content&view=article& id=237&Itemid=84 http://www.genome.gov/pages/careers/ healthprofessionaleducation/geneticscompetency.pdf http://www.aacn.nche.edu/educationresources/BaccEssentials08.pdf http://www.genome.gov/Pages/Health/ HealthCareProvidersInfo/Grad_Gen_ Comp.pdf https://www.ninr.nih.gov/sites/www.ninr. nih.gov/files/ninr-strategic-plan-2011.pdf
Holistic nurses providing cancer care, to both children and adults, can educate their patients and families about genetic-genomic advances and advocate for the integration of evidence-based geneticgenomic practice procedures to lessen cancer risk and improve cancer management outcomes (Santos et al., 2013). Personalized care, a cornerstone of holistic nursing, should be present in all health care practices. With cancer care, personalized treatment of patients with, for example, HER2-positive breast cancer, colon cancer, Lynch syndrome, and any form of leukemia requires nurses to “be aware of developments in genetics-genomics and its impact on risk assessment, prevention, diagnosis and management, thus, improve the health, quality of life and safety of their patients” (Santos et al., 2013, p. 50). In addition, all nurses need to be aware of pharmacogenomics, which is the study of how genomic factors and acquired mutations in tumors determine a person’s response or toxicity to drugs, which directly affects personalized health care (Santos et al., 2013). Holistic nurses work in all health care settings, providing synchronous person-centered care and facilitating health, healing, and wellness integration composed of multiple interactive dimensions (Erickson et al., 2013). The holistic nurse needs to be aware of the implications related to the ethical, legal, social, physical, and psychological repercussions in caring for individuals with genetic conditions (Table 1: Knowledge 1.10). The American Nurses Association’s (2015) Code of Ethics for Nurses With Interpretive Statements is a guide for carrying out nursing responsibilities in a manner consistent with quality in nursing care and the ethical obligations of the profession, providing a framework for nurses as they respond to modifications in science, which will
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result in changes in how they practice (Badzek & Monsen, 2013). The impact on practice is rapidly evolving, and the “emerging ethical, legal and social issues, including but not limited to confidentiality, decision-making capacity, informed consent, genetic testing, and research are necessary to ensure the provision of appropriate and equitable health care” (Badzek & Monsen, 2013, p. 22; Table 1: Skills 2.5).
Learning Opportunities All nurses, including holistic nurse, are expected to continue their learning. There are several learning opportunities for nurse to gain genetic/genomic knowledge. Courses such as the Summer Genetics Institute offered by the National Institute of Nursing Research provide the knowledge and skills required to bring this competency to undergraduate (and graduate) education. Duke University/Duke Center for Human Genetics offers free online course material. Cincinnati Children’s Hospital, Genetics Education Program/Web-Based Genetics Education Institute, provides several comprehensive resources for continued genetic/genomic education. These programs and numerous online resources provide nurses with an array of genetic/genomic learning opportunities to foster an enhanced understanding of this content. In addition to these resources, holistic nurses can visit websites such as TellingStories: Understanding Real Life Genetics from the National Health Services/National Genetics and Genomics Education Center, which provides real people sharing their real-life stories of having a genetic condition, linking the concept of theory to practice. These stories share what genetics is really about, its impact on individuals and their families, and what it is to “live with” a genetic condition, and assist health care professionals in understanding their situation. In addition, the University of Kansas Medical Center offers free clinical genetic education resources. The National Institutes of Health/NHGRI provides an enormous amount of information and resources for all health care professionals. As the holistic nurses’ confidence increases with their genetic/genomic knowledge and skill, they will be better equipped to provide their patients with essential genetic/genomic information and resources. As a program of study, the nurse should begin with the foundation to genetics and genomics, by exploring Cincinnati Children’s Hospital/
Genetic Education Program and National Institutes of Health/NHGRI websites, which will provide a solid base to genetics/genomics content. Then, based on the nurses’ expertise and practice setting, exploring websites such as the National Newborn Screening and Genetics Resource Center, Cancer Genetics, and/or Public Health Genomics can offer specific genetic/genomic content to complement their overall nursing knowledge. Nurses should acquire and maintain competency in genetics and genomics, at their defined skill level, in the ethical and legal landscape (Badzek & Monsen, 2013). The Genetics/ Genomics Competency Center for Education and the G3C: Global Genetics and Genomics Community websites offer numerous learning opportunities to integrate the core competencies into one’s practice. Finally, the professional organization, International Society of Nurses in Genetics, provides a wellrounded overview of resources and knowledge of human genetics for the nurse to integrate into his or her nursing practice, education, and research activities. By exploring these learning opportunities, the holistic nurse will become more equipped to integrate the core competencies as outlined in Table 1. For additional resources see Table 3.
Conclusion All nurses need to be able to provide holistic care that incorporates knowledge and skills about genetics and genomics and the spectrum of its effect on health, well-being, and lifestyle (Kirk & Marshallsay, 2013). Holistic nurses already have the knowledge and ability to integrate person-centered holistic care; we just now need to make certain we can incorporate genetic/genomic knowledge. Addressing concerns patients may have and providing psychosocial support and counseling to patients and families is foundational in holistic nursing. High-quality person-centered evidence-based practice, with an emphasis on the client perceptions and creating that energetic field of interconnectedness between nurse and client, is an all-encompassing healing–caring process (Erickson et al., 2013). With the inclusion of genetic and genomic knowledge, holistic nurses will be able to provide the public with the necessary information and resources needed to adequately navigate through this evolving health care science. The clinical relevance requires a broad knowledge of genetic/genomic competency, staying abreast of
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Genetics/Genomics / Sharoff 7 Table 3. Learning Opportunities for the Holistic Nurse in Genetics/Genomics Resources Cincinnati Children’s Hospital: Genetic Education Program National Institutes of Health: National Human Genome Research Institute
Genetic Home Reference
Talking Glossary of Genetic Terms
Online Mendelian Inheritance in Man National Newborn Screening and Genetics Resource Center Cancer Genetics
Public Health Genomics
My Family Health Portrait Genetic Counseling Cultural Competence Toolkit Genetics and Genomics Competency Center G3C
“Recommendations for Standardized Human Pedigree Nomenclature” International Society of Nurses in Genetics
Foundational Information http://www.cincinnatichildrens.org/education/clinical/nursing/genetics/default/: Provides access to continuing education, helps nurses meet genetic and genomic nursing competencies, and offers instructional resources to help nursing faculty add genetics and genomics content to their curricula http://www.genome.gov/: Provides educational materials about genetics and genomics; information and links about policy, legal, and ethical issues in genetics research; and information about genetics and genomics for patients as well as for health professionals http://www.genome.gov/HealthProfessionals/: Provides top resources for health professionals http://www.genome.gov/17515679: Provides archived articles (for historical reference) relating to genetics and genomics in nursing http://ghr.nlm.nih.gov/: National Library of Medicine produced this site to provide consumer-friendly information about the effects of genetic variations on human health; an illustrated handbook provides basic information about genetics; other sections of the site provide succinct overviews of over 800 genes and the genetics of over 500 conditions; a glossary and links to other resources are also available http://www.genome.gov/glossary/index.cfm: NHGRI created the Talking Glossary of Genetic Terms to help everyone understand the terms and concepts used in genetic research; in addition to definitions, specialists in the field of genetics share their descriptions of terms; many terms include images, animation, and links to related terms http://www.ncbi.nlm.nih.gov/omim: A comprehensive, authoritative compendium of human genes and genetic phenotypes Specific to Practice Setting/Expertise http://genes-r-us.uthscsa.edu/: Provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers, and government officials http://www.cancer.gov/cancertopics/genetics: The National Cancer Institute provides expert reviewed information about the genetics of various types of cancer; risk assessment tools for various types of cancer can also be found at this site http://www.cdc.gov/genomics/default.htm: This Centers for Disease Control and Prevention website serves as “a credible source for information on the appropriate role and importance of genomics in disease prevention and health promotion” https://familyhistory.hhs.gov/FHH/html/index.html: Is the Web-based tool from NHGRI and the U.S. Surgeon General’s Family History Initiative that helps you create your own family health history http://www.geneticcounselingtoolkit.com/default.htm: Immersion in these topics can result in a better appreciation of how genetic counseling is inherently grounded in principles of culturally competent health care Ethical, Legal, and Social Implications http://g-2-c-2.org/: Offers peer-reviewed educational resources on genetics/genomics topics for all health care educators and practitioners http://g-3-c.org/en: Is a learning portal presenting a collection of interactive cases that demonstrate how genetics and genomics link to health and illness; G3C is free to all users and encourages students and practicing health care providers to address the multidimensional needs of patients through various self-guided, videotaped “patient-provider” interview simulations Additional Resources http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801187/pdf/ajhg00029-0198.pdf: Bennett et al. (1995) http://isong.org/: A global nursing specialty organization dedicated to genomic health care, education, research, and scholarship
Note: NHGRI = National Human Genome Research Institute; G3C = Global Genetics and Genomics Community.
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genetic/genomic technology and being able to integrate genetic/genomic information through informed comprehensive nursing practice. Understanding not only the epigenetics aspect but also the inheritance pattern of genetic conditions provides the holistic nurse with a broader ability to assist patients in their lifestyle choices. “Genetics is not destiny”; it is a “gene expression that can be turned on or off by nutritional choices, levels of social support, stress reduction activities, such as meditation, and exercise” (Mariano, 2013, p. 97). Who better than the holistic nurse to be integral in this care.
References American Nurses Association. (2015). Code of ethics for nurses with interpretive statements. Silver Spring, MD: Author. Retrieved from http://www.nursingworld.org/ MainMenuCategories/EthicsStandards/CodeofEthics forNurses/Code-of-Ethics-For-Nurses.html American Psychiatric Association. (2000). Diagnostic and statistical manual of mental disorders (4th ed., text rev.). Washington, DC: Author. Badzek, L., & Monsen, R. (2013). Ethical, legal, and social issues in the translation of genomics into healthcare. Journal of Nursing Scholarship, 45, 15-24. Bennett, R., Steinhaus, K., Uhrich, S., O’Sullivan, C., Resta, R., Lochner-Doyle, D., . . .Hamanishi, J. (1995). Recommendations for standardized human pedigree nomenclature. American Journal of Human Genetics, 56, 745-752. Retrieved from http://www.ncbi.nlm.nih.gov/ pmc/articles/PMC1801187/pdf/ajhg00029-0198.pdf Calzone, K., Jenkins, J., Nicol, N., Skirton, H., Feero, W., & Green, E. (2013). Relevance of genomics to healthcare and nursing practice. Journal of Nursing Scholarship, 45, 1-2. Collins, C., & Stiles, A. (2011). Predictors of student outcomes on perceived knowledge and competence of genetic family history risk assessment. Journal of Professional Nursing, 27, 101-107. DeLuca, J., Zanni, K., Bonhomme, N., & Kemper, A. (2013). Implications of newborn screening for nurses. Journal of Nursing Scholarship, 45, 25-33. Erickson, H., Erickson, M., Sandor, M. K., & Brekke, M. (2013). The holistic worldview in action: Evolution of holistic nurses certification programs. Journal of Holistic Nursing, 31, 303-313.
Godino, L., & Skirton, H. (2012). A systematic review of nurses’ knowledge of genetics. Journal of Nursing Education and Practice, 2, 173-184. Johnson, N., Giarelli, E., Lewis, C., & Rice, C. (2013). Genomics and autism spectrum disorder. Journal of Nursing Scholarship, 45, 69-78. Kirk, M., Calzone, K., Arimori, N., & Tonkin, E. (2011). Genetics-genomics competencies and nursing regulation. Journal of Nursing Scholarship, 43, 107-116. Kirk, M., & Marshallsay, M. (2013). Providing nursing care and support to individuals and families with genetic/genomics healthcare needs. Nursing Standard, 28(16-18), 39-46. Mariano, C. (2013). Health care in the United States. In B. Dossey & L. Keegan (Eds.), Holistic nursing: A handbook for practice (pp. 85-106). Burlington, MA: Jones & Bartlett Learning. National Coalition for Health Professional Education in Genetics. (2007). Core competencies in genetics essential for all health-care professionals (3rd ed.). Retrieved from http://www.nchpeg.org/index.php?option=com_content &view=article&id=237:core-competencies-for-all-healthprofessionals-2007&catid=50:core-competencies-for-allhealth-care-professionals-2007&Itemid=84 National Human Genome Research Institute. (n.d.). An overview of the human genome project. Retrieved from http://www.genome.gov/12011238 Prows, C., Hopkin, R., Barnoy, S., & Riper, M. (2013). An update of childhood genetic disorders. Journal of Nursing Scholarship, 45, 34-42. Santos, E., Edwards, Q., Floria-Santos, M., Rogatto, S., Achatz, M., & MacDonald, D. (2013). Integration of genomics in cancer care. Journal of Nursing Scholarship, 45, 43-51. Schaaf, C., Zschocke, J., & Potocki, L. (2012). Human genetics: From molecules to medicine. New York, NY: Lippincott Williams & Wilkins. Schutte, D., Davies, M., & Goris, E. (2013). The implications of genomics on the nursing care of adults with neuropsychiatric conditions. Journal of Nursing Scholarship, 45, 79-88. Skirton, H., O’Connor, A., & Humphreys, A. (2012). Nurses’ competence in genetics: A mixed method systematic review. Journal of Advanced Nursing, 68, 2387-2398. Leighsa Sharoff, EdD, RN, NPP, AHN-BC, is an Associate Professor and Simulation Coordinator at the City University of New York at Hunter College School of Nursing. She is an advanced certified holistic nurse as well as a psychiatric nurse practitioner. Dr. Sharoff is an experienced holistic nurse educator and researcher who incorporates a holistic nursing philosophy to teaching.
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