Nurses transforming health care using genetics and genomics

      Introduction

      This paper was originally written as a policy white paper and is formatted accordingly. Each section begins with bulleted assertions that summarize key points. The leading bullets are then followed by supporting evidence.
      • Nurses are well positioned to incorporate genetic and genomic information across all aspects of the US healthcare system.
      • Nurses, the most trusted health professionals,

        Gallup. Honesty/Ethics in Professions 12/2/2007. Available at: http://www.gallup.com/poll/1654/Honesty-Ethics-Professions.aspx. Accessed May 16, 2008.

        make unique contributions to the field of human genetics and genomics and complement the work of other health care providers to improve the health of the public.
      Healthcare benefits greatly from the unprecedented and ongoing work elucidating the genetic/genomic basis of health, illness, disease risk, and treatment response. The progress in genetics and genomics is applicable to the entire spectrum of health care and all health professionals and as such to the entire nursing profession (2.9 million)

      Health Resources Services Administration. The Registered Nurse Population: Findings From the March 2004 National Sample Survey of Registered Nurses, 2007. Available at: ftp://ftp.hrsa.gov/bhpr/workforce/0306rnss.pdf. Accessed May 12, 2008.

      in the United States regardless of role, clinical specialty, or academic preparation. The majority of disease risk, health conditions, and the therapies used to treat those conditions have a genetic and/or genomic element influenced by environmental, lifestyle, and other factors, therefore impacting the entire nursing profession.
      • Guttmacher A.E.
      • Collins F.S.
      Welcome to the genomic era.
      Nurses have intimate knowledge of the patient's, family's, and community's perspectives; an understanding of biologic underpinnings; experience with genetic/genomic technologies and information; skills in communication and building coalitions; and most importantly, the public's trust. Across the lifespan, nursing focuses on health promotion and disease prevention, which is an integral component of genetic/genomic health care practices. Awareness of nurses' strengths and skills, together with the recognition that prevention is the hallmark of genetic/genomic health care, will inform public policymaking groups as they address issues that affect heathcare practice in the area of genetics/genomics. Policy making process will be informed with new insights by including nurses and professional nursing organizations. These policies can facilitate the ability of US health care systems to use genetic/genomic knowledge to promote health and manage disease.

      The Potential of Nurses Using Genetic and Genomic Information to Optimize Quality HealthCare Outcomes

      • The nursing profession is a pivotal provider of quality health care services and is essential to closing the gap between research discoveries that are efficacious to health care and their successful adoption to optimize health.
      For people to benefit from widespread genetic/genomic discoveries, nurses must be competent to obtain comprehensive family histories, identify family members at risk for developing a genomic influenced condition and for genomic influenced drug reactions, help people make informed decisions about and understand the results of their genetic/genomic tests and therapies, and refer at-risk people to appropriate healthcare professionals and agencies for specialized care.
      The top 10 leading causes of mortality in the US in 2005 (Figure 1) all have a genetic and/or genomic component, with heart disease, cancer, cerebrovascular disease, and diabetes representing the vast majority of mortalities.

      National Center for Health Statistics. Top Ten Leading Causes of Mortality in the US, 2004. Available at: http://www.cdc.gov/nchs/fastats/deaths.htm. Accessed August 22, 2008.

      Because of the chronic nature of these conditions and the management needed, nurses are intimately involved in the ongoing treatment and management of these conditions.
      Figure thumbnail gr1
      Figure 12005 Top 10 Leading Causes of Mortality in the US.
      Every year, more than 106,000 people in the US will die from adverse effects from medications prescribed and administered in correct dosages, and more than 2 million will suffer serious, but not life-threatening, toxicities.

      National Human Genome Research Institute. Personalized Medicine: How the Human Genome Era Will Usher in a Health Care Revolution, 2005. Available at: http://www.genome.gov/13514107. Accessed August 22, 2008.

      Advanced practice nurses prescribe and all nurses, regardless of their level of preparation, dispense medications as well as provide education, monitor persons using medications, and are often the first line of defense to initiate actions to prevent adverse drug effects.
      Among individuals 65 years of age or older, 17.3% of adverse drug event emergency department visits were associated with warfarin (Coumadin), the majority of which were dose-related, with 44.2% requiring hospitalization.
      • Budnitz D.S.
      • Shehab N.
      • Kegler S.R.
      • Richards C.L.
      Medication use leading to emergency department visits for adverse drug events in older adults.
      Individual genetic markers are among the factors that contribute to the determination of warfarin dose requirements.
      • Wadelius M.
      • Pirmohamed M.
      Pharmacogenetics of warfarin: Current status and future challenges.
      Translating information about the genetic markers into the clinical arena, where warfarin dosing and maintenance monitoring have a strong nursing component,
      • Connor C.A.
      • Wright C.C.
      • Fegan C.D.
      The safety and effectiveness of a nurse-led anticoagulant service.
      • Shimabukuro T.T.
      • Kramer J.
      • McGuire M.
      Development and implementation of a nurse-managed anticoagulation program.
      can reduce the incidence of life-threatening hemorrhage or subtherapeutic dosing that can result in thrombosis (clot formation somewhere in the body, eg, lungs or brain) as a consequence of individual responses regulated by genetic makeup.
      Despite a burgeoning body of evidence regarding the contribution of genetics and genomics to health or illness, the evidence-specific to outcomes of genomically competent nursing practice and the impact on the public's health is extremely limited—if not entirely absent. Yet, individual anecdotes point to the remarkable potential for transforming health care by the genomically competent nurse.
      • Nurses knowledgeable about genetics/genomics and skilled at obtaining and assessing risk in a family history have the potential to help people avert adult-onset disorders and consequential morbidity and mortality.
      More than 180,000 new cases of breast cancer are diagnosed annually, of which approximately 5%–10% will have an inherited susceptibility to the disease.
      • Jemal A.
      • Siegel R.
      • Ward E.
      • Hao Y.
      • Xu J.
      • Murray T.
      • et al.
      Cancer statistics, 2008.
      As part of new patient multidisciplinary consultation, a nurse case manager took a brief family pedigree of a woman to identify any information consistent with an inherited susceptibility to cancer. The nurse identified a paternal family history of early-onset breast cancer and her ethnic heritage, Ashkenazi Jewish, both of which influenced her risk of having a mutation (change in a gene) in a breast cancer susceptibility gene. The nurse referred this woman to a cancer genetic specialist. The woman called the nurse case manager to tell her that she was tested for mutations in BRCA1 and BRCA2 and was found to have one of the common Ashkenazi Jewish founder mutations. She proceeded to have her ovaries removed to reduce her risk of ovarian cancer and learned that the pathology showed precancerous cells. Did this genetically competent nurse save this woman from a future diagnosis of ovarian cancer? Almost certainly, the answer is yes. The evidence points to not only a reduction in morbidity and potential mortality by substantially reducing her risk of ovarian cancer, but also to a healthcare savings of hundreds of dollars per life year
      • Anderson K.
      • Jacobson J.S.
      • Heitjan D.F.
      • Zivin J.G.
      • Hershman D.
      • Neugut A.I.
      • et al.
      Cost-effectiveness of preventive strategies for women with a BRCA1 or a BRCA2 mutation.
      as a consequence of the nurse's actions.
      Annually, approximately 180,000–250,000 individuals in the United States will suffer a sudden cardiac death.
      • Chugh S.S.
      • Reinier K.
      • Teodorescu C.
      • Evanado A.
      • Kehr E.
      • Al Samara M.
      • et al.
      Epidemiology of sudden cardiac death: clinical and research implications.
      Nurses knowledgeable in genetics/genomics can help people avert sudden cardiac death. A cardiovascular advanced practice nurse (APN) performed a cardiac echocardiogram on a patient who told the story about several family members who had died suddenly from a heart attack. Intrigued, the APN obtained a family history and shared it with one of the cardiologists. Over several years, the APN collected an extensive multiple-generation family history that included members located in many states and several countries and found that many had died in their teens and early adult years. The family participated in a research study and eventually the gene and disease-specific mutation were identified.

      NCBI, Online Mendelian Inheritance in Man. LAMIN A/C; LMNA, 2008. Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150330. Accessed August 1, 2008.

      A woman from the family described the benefits of undergoing genetic testing as a guest speaker at a genetic nursing conference. When the woman discovered that she did have the family gene mutation associated with sudden cardiac death, she scheduled her first appointment with a cardiologist. Over an 8-year period, she had an implantable cardioverter-defibrillator (ICD) placed, which cardioverted her on two separate occasions and she had two ablation surgeries for atrial fibrillation (irregular heartbeats that can be life threatening). At the conference, she was pregnant with her first child. She explained that her pregnancy was possible because of the APN's genetic knowledge and close monitoring, education of other healthcare professionals involved in the woman's prenatal care, and her guidance and support throughout the pregnancy. In this family, the APN averted the premature death of many at-risk family members by listening to and further investigating a family history over the course of 10 years.
      • In preconception and prenatal settings, nurses have an opportunity to help families prepare for a child with a genetic condition.
      Congenital malformations are the leading cause of infant death in the United States.

      National Center for Health Statistics, Health, United States, 2007. Available at: http://www.cdc.gov/nchs/data/hus/hus07.pdf. Accessed August 22, 2008.

      Recently, a 48-year-old woman recalled her experiences with the birth and eventual death of her 2 children with different chromosome disorders. She contrasted her tumultuous experience with her first baby to her dramatically better experience 10 years later with her second baby. When the woman was 30 years old, she received a call at work from the obstetrician's office that her genetic screen was abnormal. A follow-up amniocentesis revealed that her developing baby had trisomy 18 (Edwards syndrome). Suffering from years of emotional guilt after terminating a pregnancy when she was young, the woman elected to continue her pregnancy. When her daughter was born, the mother felt very little support from the nurses and physicians. She described them as task oriented and very clinical. When she was discharged home with her baby, the mother felt abandoned by the healthcare system; her only contact with healthcare professionals was her baby's pediatrician, who had never cared for a child with trisomy 18 during his 20 years of practice. Ten years later, the woman became pregnant with her “miracle child.” Because of her age and history of having a previous child with a chromosome disorder, the woman elected to have an amniocentesis for reassurance. Unfortunately, the results revealed she was pregnant with a male fetus that had trisomy 13 (Patau syndrome). In contrast to her previous experience, she was referred to a pediatric hospice service. The woman was reassured by the nurses' and physicians' knowledge about trisomy 13 and the expected clinical course. The nurse made sure all labor and delivery and postnatal staff were knowledgeable about trisomy 13 and aware of the expected birth, as well as the plan for comfort care. The nurse maintained contact with the woman during the pregnancy and provided hospice care during the woman's son's 12-week lifespan.

      Context and Solutions

      Research

      • The goal of nursing research in clinical genetics and genomics is to improve the quality of health care for patients and families.

      Context

      Nursing research can provide a foundation of content for maintaining wellness through prevention and health promotion. The paucity of outcome data is hindering efforts to incorporate genetics/genomics into curricula, licensure, certification, and academic and health care organization accreditation. Nursing research that investigates the behavioral, social, and physiological benefits and risks for individuals and families is needed to verify the value of this new science to patient and family care. There is an urgent need for nursing research that provides evidence for genetic/genomic practice guidelines and to document outcomes of genetic/genomic-based nursing care. For example, there is a lack of nursing research to provide important insights about how nurses' knowledge in genetics/genomics can optimize patient outcomes. There is also an urgent need to connect the patients and families who need these research discoveries with the potential benefits of increasingly available options for care. For example, more research is needed to explore how family members access, use, and cope with genetic/genomic information that can influence the achievement of present and future health goals.

      Solutions

      Nursing research examines questions from a biobehavioral perspective that links clinical and basic science, as well as genetic and genomic research.
      • Conley Y.P.
      • Tinkle M.B.
      The future of genomic nursing research.
      Increased funding is needed for nurse researchers to conduct basic, clinical and translational genetic/genomic research. In addition, continued support is needed for pre and postdoctoral fellowships, the National Institute of Nursing Research Summer Genetics Institute, and other innovative programs. Public and private funds to support these key components for preparation of tomorrow's nurse genetic/genomic researchers are required to achieve genetic/genomically literate researchers who will conduct innovative genetic and genomic research and obtain valuable scientific data.

      Education

      • Education is required for nurses and all health professionals to assure that the revolutionary advances in genetics and genomics reach the patients and families for whom they were developed
      • Nurses, other healthcare professionals, and their employers will ultimately face significant liability for failing to incorporate genetic/genomic discoveries into practice.

      Context

      The integration of genetics and genomics information into all facets of healthcare provides the tools to treat patients as truly unique individuals and implement novel screening, diagnostic, and therapeutic interventions, all aimed at improving population health. The gap between genetics/genomics in clinical care and what the nursing community is equipped to provide grows larger day by day. A similar gap exists for medicine and other health professionals.
      • Harvey E.K.
      • Fogel C.E.
      • Peyrot M.
      • Christensen K.D.
      • Terry S.F.
      • McInerney J.D.
      Providers' knowledge of genetics: A survey of 5915 individuals and families with genetic conditions.
      Understanding the implications of genetic/genomic changes associated with common diseases has the potential to improve the identification of individuals at risk for health problems, target risk-reducing interventions, enhance existing screening, improve prognostic and treatment choices, develop individualized therapy, and influence treatment dosing and selection based on genetic variations that influence drug response. With the increasing development of practice guidelines, commercially available tests, insurance coverage, and legislative protection, genetic tests are already moving beyond specialty genetic services into the mainstream healthcare arena. The result is healthcare providers including nurses, not specially trained in genetic or genomics including implications of genetic testing, are assuming responsibility for all aspects of genetic/genomic service delivery. Further challenging the healthcare community is the fact that direct-to-consumer marketing of some genetic tests are already underway.
      • Hunter D.J.
      • Khoury M.J.
      • Drazen J.M.
      Letting the genome out of the bottle—Will we get our wish?.
      These discoveries have the potential to decrease the disease burden and morbidity, and they present a unique opportunity to affect healthcare costs. However, this benefit will be limited by the lack of knowledgeable professionals who can help the public understand the risks, benefits, or value of such genetic tests.
      Evidence continues to accumulate regarding the value of genetic/genomic information on health outcomes.
      Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group
      Recommendations from the EGAPP Working Group: Can tumor gene expression profiling improve outcomes in patients with breast cancer?.
      Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working GroupRecommendations from the EGAPP Working Group
      Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives.
      A significant barrier to assuring that patients and families benefit from this rapidly emerging knowledge is lack of recognition of the value of genetic/genomics on health outcomes across the health professions. There is a tremendous gap in the knowledge of practicing nurses about the relevancy of genetics/genomics to clinical care. Furthermore, there is an even greater knowledge gap associated with the sensitivity, specificity, and clinical utility of the broad array of genetic tests available to the public. This gap can be closed through education about the relevancy of these discoveries and the translation to practice, education, and policy. In addition to balancing the point, it can serve as another way nurses can contribute to better decision-making for patients.
      Current academic nursing education does not adequately prepare nurses for their evolving role in today's genomic era. Genetics/genomics' didactic and clinical content are not standard in registered nurse (RN) preparatory programs, leaving a large nursing workforce insufficiently prepared to help people take advantage of genomic discoveries to improve their health. Previous research has revealed that many nurses have minimal training in genetics and genomics.
      • Maradiegue A.
      • Edwards Q.T.
      • Seibert D.
      • Marci C.
      • Sitzer L.
      Knowledge, perceptions, and attitudes of advanced practice nursing students regarding medical genetics.
      Recognized by nurse educators and professional nursing organizations as a problem, the American Association of Colleges of Nursing (AACN) revised The Essentials of Baccalaureate Education for Professional Nursing Practice, which now integrates genetic/genomic concepts as foundational for all baccalaureate nursing curriculum.

      American Association of Colleges of Nursing. The Essentials of Baccalaureate Education for Professional Nursing Practice, 2008. Available at: http://www.aacn.nche.edu/Education/pdf/BaccEssentials08.pdf. Accessed May 27, 2009.

      Some professional nursing organizations include genetics/genomics in annual education programs, and 49 professional organizations endorsed the US genetic/genomic nursing competencies.
      Although the preparation of nurses for today's genomic era is recognized by the academic community, faculty resources are meager and funds for educational programs to incorporate genetic/genomic into curricula are lacking. Public and private funds are needed to assure that all nursing faculty are able to acquire the knowledge necessary to initiate and sustain the integration of genetic/genomic content throughout all nursing programs.

      Solutions

      Efforts in transforming health care should focus on educating nurses to be competent in this new knowledge. Reaching the 2.9 million practicing nurses requires financial support to develop and update continuing education programs; to create workshops; and build, maintain, and update an educational portal that facilitates access and use of all available genetic/genomic educational resources. United States genetics/genomics nursing leaders have helped prepare the nursing profession by developing and disseminating guidelines for genetic/genomic practice (Genetics/Genomics Nursing: Scope and Standards of Practice) and education (Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics). Nurses in several countries are devising solutions to incorporate genetic/genomic education into continuing education programs for clinicians and into traditional academic programs. The Competencies provide guidance to educators about required knowledge, skills, and abilities of nurses to ensure quality care in the 21st century.

      National Coalition for Health Professional Education in Genetics. Core Competencies in Genetics Essential for All Health-Care Professionals, 2007. Available at: http://www.nchpeg.org/. Accessed April 4, 2008.

      Consensus Panel on Genetic/Genomic Nursing Competencies. Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics.
      It is a tremendous challenge to address the learning needs of current faculty who themselves have not had this new science in their training. Efforts to provide the tools to facilitate education of faculty are ongoing (see Table 1) with: (1) publications to promote awareness, (2) development of educational programs to prepare faculty and researchers, and (3) tools to assist faculty in curriculum integration of genetics and genomics. The leadership nursing has provided in the area of competencies and education can serve as models to inform the work of other healthcare professionals. Four major areas need progress:
      • Relevant genetics/genomics content is needed across nursing continuing education programs to ensure quality care.
      • Nursing education programs must emphasize the genetic/genomic concepts and skills needed to ensure quality care.
      • Genetic/genomic knowledge and skills need to be integrated into student clinical experiences across the life span and throughout the health and illness spectrum.
      • Resources to prepare faculty and to support ongoing changes are needed to assure that all faculty are able to implement and sustain the integration of genetic/genomic content throughout all nursing programs.
      Table 1Leadership in genetic/genomic nursing education
      With application to all healthcare professionals.
      ResourceLocation
      Genetic/genomic nursing publications to promote awareness
      American Association of Colleges of Nursing Revised Baccalaureate Essentialshttp://www.aacn.nche.edu/Education/pdf/BaccEssentials08.pdf
      Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomicshttp://www.genome.gov/17517037
      Journal of Nursing Scholarship Article Serieshttp://www.genome.gov/17515679
      United Kingdom Nursing Competencies in Geneticshttp://www.geneticseducation.nhs.uk/teaching/downloads/FitforPractice_Extendedsummary.pdf
      United Kingdom Nursing Standard Series Genetics: Building Nurses Knowledgehttp://www.geneticseducation.nhs.uk/teaching/nursing.asp?id=109#series
      Education programs to prepare faculty and researchers
      Cincinnati Children's Hospital Genetics Education Program for Nurseshttp://gepn.cchmc.org
      National Institute of Nursing Research Summer Genetics Institutehttp://www.ninr.nih.gov/Training/TrainingOpportunitiesIntramural/SummerGeneticsInstitute/
      University of Iowa Online Continuing Education Program: Ethics and Genetic Testing for Nurses–CEUhttps://www.continuetolearn.uiowa.edu/ecomm/ccp/10Expand.asp?ProductCode=096cegenetic
      Tools to assist faculty in curriculum integration of genetic/genomic
      Nursing Faculty Tool Kithttp://www.genome.gov/27527634
      United Kingdom Telling Stories, Understanding Real Life Geneticshttp://www.geneticseducation.nhs.uk/tellingstories/
      US Surgeon General's Family History Initiativehttp://www.hhs.gov/familyhistory/
      With application to all healthcare professionals.

      Disparities/Insurance/Reimbursement

      • The nursing profession has a key role in assuring that genetic/genomic health care does not enhance racial and ethnic health inequities.

      Context

      Race and ethnicity are currently potential indicators for those at risk for or protected from a disease, as well as for different treatment responses.
      • Hunt L.M.
      • Megyesi M.S.
      The ambiguous meanings of the racial/ethnic categories routinely used in human genetics research.
      However, reliance on these proxies should diminish as technology improves our ability to identify and interpret an individual's combination of genetic variations associated with particular health outcomes.
      • Li J.Z.
      • Absher D.M.
      • Tang H.
      • Southwick A.M.
      • Casto A.M.
      • Ramachandran S.
      • et al.
      Worldwide human relationships inferred from genome-wide patterns of variation.
      • Price A.L.
      • Butler J.
      • Patterson N.
      • Capelli C.
      • Pascali V.L.
      • Scarnicci F.
      • et al.
      Discerning the ancestry of European Americans in genetic association studies.
      This will require appropriate use of new scientific knowledge, but also a continued emphasis on caring for each patient as an individual.
      • Bonham V.L.
      • Knerr S.
      Social and ethical implications of genomics, race, ethnicity and health inequities.
      Interpretation of genetic information in a sensitive and appropriate manner requires accurate awareness of all the influencing factors affecting healthcare outcomes including genetics/genomics—but also includes the socioeconomic, lifestyle, and environmental influences that affect disease occurrence and treatment decisions. Nurses can assist policymakers to understand differences between labels that have societal implications versus individual characteristics that may increase risk for disease or affect the management of diseases and disease prevention or adverse drug reactions to provide individualized and safe health care.

      Solutions

      Nursing education programs and curricula must increase emphasis on the cultural, language, family values, traditions, health beliefs, and religious perspectives that affect access to and use of genetic/genomic information, technology, and services.
      • Effective continuing education programs will prepare practicing nurses to consider influencing variables related to the use of genetic/genomic services.
      • Cultural assessment, knowledge, and skills must be integrated into nursing curricula and clinical experiences.
      • Funding will support genetic/genomic research that investigates the influence of human genetic/genomic variation on healthcare outcomes.
      • Application of nursing research on health disparities to research on genetic and genomics and health outcomes for patients and their families.

      Policy

      • Nursing contributions improve patient and family health outcomes and strengthen the practice of all healthcare professionals.
      • Nurses have engaged in informing policy of genetics and genomics for decades by serving on committees to develop and institute policies, standards, and practices that ensure the highest possible levels of health care for all Americans.
      • Policies that promote inclusion of genetics and genomics as an essential component of nursing education and delivery of health care, regardless of setting, are essential to accelerate the work of translation and application of genetic and genomic advances for promoting and protecting the health of the public.
      • Current genetic and genomic issues are all of concern to nurses as they bring a biobehavioral perspective to the table with an emphasis on prevention and health promotion in the context of the patient, family, and community. This fundamental perspective provided by nurses is crucial when these are being debated.

      Context

      Genetic testing is at the forefront of genomic healthcare applications, with availability of testing for more than 1,600 genetic disorders ranging from single-gene disorders, such as cystic fibrosis, to complex disorders, such as diabetes. Family history is a valuable tool to identify those who may benefit from genetic services including genetic counseling and testing. The importance of obtaining an accurate family history as the critical entry point for those with genetic risks for disease, disability, or adverse drug effects cannot be overemphasized.
      Currently, limitations of genetic testing generally include analytic validity, clinical validity, and clinical utility—all of which influence the accuracy and usefulness of the genetic test. Specifically, one concern related to genetic testing and its limitations is encompassed by a concept known as genetic determinism. Genetic determinism is the idea that an individual who undergoes a genetic test and is shown to be “at risk” for a genetic disorder will ultimately be diagnosed with the disorder. Although this may be true for disorders such as Huntington disease and early-onset Alzheimer disease, most predisposition genetic tests are not sensitive or specific enough to allow prediction with certainty that the disorder will occur. Furthermore, when the family disease–associated mutation is not known, testing negative on a genetic test does not rule out a disorder occurring in the future. These are complex concepts that may be difficult for the lay public to understand. Nurses regularly provide patient and family education and have the understanding and skills to anticipate and meet the educational needs of clients.
      Current genetic/genomic policy issues being debated by policymaking groups can benefit from the biobehavioral patient/family/community-centered perspective of nursing. A partial list of current challenges to safe, quality care for the US public includes:
      • Personalized health care: What models will emerge? Will there be access for all individuals regardless of demographics? Specifically, will genetic and genomic tests be available to all or to only a select few?
      • Racial/ethnic disparities: Will genetic/genomic information diminish or increase disparities?
      • Economic cost/value: What is the cost and value to individuals, families, and society of genetic/genomic applications, specifically, genetic testing, genetically/genomically-sensitive supportive care, and pharmacogenomics?
        Institute of Medicine
        Diffusion and Use of Genomic Innovations in Health and Medicine: Workshop Summary.
      • Direct-to-consumer marketing of genetic tests: What is the appropriate oversight? How to ensure adequate consumer education pre- and postgenetic test results? Are the genetic test results sensitive, specific, and quality controlled?
      • Health and related genetic/genomic information: How will information be stored, shared, and kept private? New models are emerging, and usefulness and benefits are yet to be addressed. How will electronic medical records affect documentation privacy and confidentiality?
      • Potential discrimination: The Genetic Information Nondiscrimination Act (GINA) H.R. 493 has been passed by Congress. However, there are significant gaps, including (1) it excludes military personnel; (2) it does not apply to life, disability, or long-term care insurance; and (3) it does not prohibit medical underwriting based on current health status.
        • Hudson K.L.
        • Holohan M.K.
        • Collins F.S.
        Keeping pace with the times—The Genetic Information Nondiscrimination Act of 2008.
        Other issues not addressed in this legislation may also emerge.
      • Support for interdisciplinary healthcare education as a model that promotes effective use of genomic information integrated across disciplines.
        • Feetham S.L.
        • Williams J.K.
        Nursing and Genetics: Leadership for Global Health.
        • Feetham S.
        • Thomson E.J.
        • Hinshaw A.S.
        Genomics for health and society: A framework for nursing leadership.
      • Provider reimbursement for genetic/genomic services: This complex issue involves nurses, other healthcare providers, and the consumer.
      • Funding to support the incorporation of genetics/genomics into:
        • Nursing education at all levels.
        • Research and research training, specifically through funding of the National Institutes of Health programs. Examples include: National Institute of Nursing Research Summer Genetic Institute, National Human Genome Research Institute (NHGRI) programs (including Ethical, Legal, and Social Implications), institutional training grants (T32) in genomics, and individual funding.

      Solutions

      Nurses have made important contributions as members of former President Clinton's Secretary's Advisory Committee on Genetic Testing (SACGT) and former President Bush's and current President Obama's Secretary's Advisory Committee on Genetics, Health, and Society (SACGHS)—and individually and as representatives of organizations, presented testimony on topics ranging from genetic/genomic education of healthcare professionals to rights for protection from genetic discrimination.
      The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative, sponsored by the Centers for Disease Control and Prevention, was implemented in 2004. The EGAPP initiative includes a working group with the primary goal of writing and informing others of recommendation statements for use of genetic tests. A nurse serves on the EGAPP Working Group. Building from her contributions, 2 nurses were appointed to the EGAPP Stakeholder Group (ESG). Nurses are active participants in EGAPP initiatives since their inception and as a result have been able to disseminate the genetic/genomic recommendations to the nursing community as well as provide feedback to the working group.
      However, these efforts alone are not sufficient to address the multiple strategies that are needed to fully engage nurses. The following are examples of nursing's contributions to genetics/genomics. If we are to truly leverage nursing's role in improving the outcomes of care, more of these initiatives and efforts must include nursing.
      The Institute of Medicine has instituted a Roundtable on Translating Genomic-Based Research for Health, with the overarching mission to advance the field of genomics and improve the translation of research findings to health care, education, and policy. This multidisciplinary effort, which includes nursing, has identified 6 priority areas: evidentiary issues and method, systems for research and evaluation, service delivery, innovation, education, and coordination. A nursing leader chairs the Education Committee.
      The International Council of Nurses (ICN) is a federation of national nurses' associations from more than 128 countries. The ICN represents the world's widest reaching international organization for health professionals. In 2004, the ICN published the Genetics in Nursing monograph, providing a vision for nursing nationally and internationally in global, scientific, practice, education, social, information, ethical, and political contexts.
      Genetic/genomic information is becoming widely available through research and testing. There is a movement toward widespread sharing of vast amounts of genetic/genomic data in an effort to research, prevent, and treat common disorders of adulthood, such as diabetes, cardiovascular disease, and Alzheimer disease. Concerns exist regarding the ability to match individuals to their genetic/genomic information, even when traditional identifiers (ie, name, social security numbers) are removed. Nurses are well positioned to guide policies on the emerging issues related to use of genetic/genomic information because they have experience in monitoring research protocols through participation on Institutional Review Boards and other groups that monitor these issues.
      Research findings about the appropriate use and interpretation of genetic and genomic information and technologies are needed, and these would provide the foundation for our policymaking bodies.
      • Collins F.S.
      • Green E.
      • Guttmacher A.E.
      • et al.
      A vision for the future of genomic research.
      Yet, the desire to create a “one size fits all” policy has been a challenge when developing health policies for an extremely diverse population such as that in the US.
      • Feetham S.
      • Thomson E.J.
      • Hinshaw A.S.
      Genomics for health and society: A framework for nursing leadership.
      Nurses are conducting research ranging from ethical issues of genetic testing to conducting microarrays on tissue samples. Findings from these studies and others have provided a foundation for ethical and social policies.
      Professional organizations and foundations such as the Robert Wood Johnson Foundation (RWJF) provide advanced leadership fellowships for nurses who are aspiring to lead and shape the US healthcare system of the future. The American Academy of Nursing (AAN) supports the RWJF's “Nurse Leaders in the Boardroom” effort, which seeks to place nurse leaders on nonprofit healthcare boards by identifying candidates and mentors, and assessing key national health policy/decision-making bodies to identify those that have no or insufficient nursing representation, including those who represent genetics/genomics interests.

      International Perspectives

      • Preparing nurses to provide genetic/genomic-based health care is an international concern and by working together, nurses are finding answers.
      • Policies that enable genetic/genomics to be an essential component of nursing education and delivery of health care regardless of setting are essential to accelerated translation and application of genetic/genomic advances to the health of the public.
      • Nursing is recognized as providing leadership in educational programs nationally, and internationally these programs can serve as models for all health professionals.
      The need for a genetically literate workforce that can lead and ensure nursing's ongoing participation in translation of genomic discoveries into day-to-day health care is not limited to the US. Although the task of achieving genetic literacy for the more than 2.9 million US nurses projected to be needed by 2020

      Hrsa. The Registered Nurse Population: Findings From the March 2004 National Sample Survey of Registered Nurses, 2007. Available at: ftp://ftp.hrsa.gov/bhpr/workforce/0306rnss.pdf. Accessed May 12, 2008.

      is one of the largest challenges faced by the profession, US nurses are not alone in devising ways to meet this challenge.
      Globally, nursing leaders look to each other for guidance to develop new strategies, and nurses learn from colleagues who are implementing national education programs.
      • Feetham S.L.
      • Williams J.K.
      Nursing and Genetics: Leadership for Global Health.
      In 2001, the US developed the National Coalition for Health Professional Education in Genetics (NCHPEG) Competence Statements. These were the template for UK nursing competencies.

      Department of Health. Our inheritance, our future: Realising the potential of genetics in the NHS Progress Review, 2008. Available at: http://www.dh.gov.uk/en/Publichealth/Scientificdevelopmentgeneticsandbioethics/Genetics/DH_084147#_1. Accessed August 22, 2008.

      The UK nursing program in the National Health Service National Genetics Education and Development Centre uses the UK nursing genetics competencies to raise awareness of the relevance of genetics, work collaboratively with policy stakeholders, and provide practical help to integrate genetics and genomics into curricula and courses.
      • Kirk M.
      • Tonkin E.
      • Burke S.
      Engaging nurses in genetics: The strategic approach of the NHS National Genetics Education and Development Centre.
      The 2003 UK White paper, Our Inheritance, Our Future,

      Department of Health. Our inheritance, our future: Realising the potential of genetics in the NHS Progress Review, 2008. Available at: http://www.dh.gov.uk/en/Publichealth/Scientificdevelopmentgeneticsandbioethics/Genetics/DH_084147#_1. Accessed August 22, 2008.

      has had a substantial impact on nursing practice and genomic health care in the UK, with an increase in trainee posts and education for nurses and other clinical practitioners. The goal of the National Health Service, to make the best use of advances in genetic/genomic knowledge, has resulted in increased investment in genetic services, research, and development of capacity across the entire healthcare system. This increased investment helps to harness the potential and involve the public in continuing debate regarding genetic developments and health care.

      Department of Health. Our inheritance, our future: Realising the potential of genetics in the NHS Progress Review, 2008. Available at: http://www.dh.gov.uk/en/Publichealth/Scientificdevelopmentgeneticsandbioethics/Genetics/DH_084147#_1. Accessed August 22, 2008.

      Similar efforts to develop the capacity of nurses to participate in genetic/genomically competent health care are ongoing in Japan, where developments in genetic nursing have occurred recently.
      • Skirton H.
      • Arimori N.
      • Aoki M.
      A historical comparison of the development of specialist genetic nursing in the United Kingdom and Japan.
      • Williams J.K.
      Genetics and nursing. 21st century message from world to world.
      Concurrent analysis of nursing education's efforts by US, UK, South African, and New Zealand members of the International Society of Nurses in Genetics (ISONG) facilitated collaboration among countries in identifying the most pressing obstacles to development of genetic/genomic health care.
      • Prows C.A.
      • Glass M.
      • Nicol M.J.
      • Skirton H.
      • Williams J.
      Genomics in nursing education.
      Genetic/genomic nurse leaders from the United States, the United Kingdom, Brazil, Japan, Taiwan, Ireland, and Australia recently identified lack of effective presentation of genetics/genomics in nursing curricula and obstacles within healthcare settings as major barriers to integration of genetics and genomics into all aspects of nursing practice.
      • Kirk M.
      • Lea D.
      • Skirton H.
      Genomic health care: Is the future now?.
      The lack of a genetically informed nursing workforce, in addition to healthcare systems that are not prepared to implement genetic/genomic information into holistic care delivery, are major obstacles to transforming health care. These are obstacles for the US public that limit their opportunities to receive accurate and timely identification of genomic contributions to their risk for disease, management of symptoms, and support to individuals and families.
      US nurses have accomplished important milestones by creating practice guidelines and competencies with support from professional organizations including ISONG and the American Nurses Association.
      • Jenkins J.
      • Calzone K.A.
      Establishing the essential nursing competencies for genetics and genomics.
      ISONG. Genetics/Genomics Nursing
      Scope and Standards of Practice.
      These efforts advanced through federally funded projects that support nurse training, development of education resources, and research to build knowledge of genomic health care. However, the resources have not kept up with the need, and current resources are not sufficient to sustain even these initial training efforts. Education resources to prepare faculty, students, and practicing nurses are needed. Resources are also necessary to fund basic, clinical, and translational research to build the evidence base that will guide practice for today's and tomorrow's nurses. The scope of these guidelines will continue to broaden, as genetic/genomic discoveries become critical components of health promotion and disease prevention assessment and treatment management options for a larger spectrum of health concerns.

      Summary of Current and Future Policy Issues

      • Nurses and representatives of professional nursing organizations bring a biobehavioral perspective to the table with an emphasis on prevention and health promotion in the context of the patient, family and community. Nurses are integral to the policymaking process that affects healthcare practice in the area of genetics/genomics.
      Bringing the entire US nursing workforce (more than 2.9 million) to the forefront of genetics/genomic healthcare practice is appropriate, because one role of the nurse is to elicit health-related information, recognize what is important, and subsequently act on that information. Public policies that affect heathcare practice in the area of genetics/genomics will be stronger with inclusion of nurses and professional nursing organization representation in the policy-making process. Successful application of genetic/genomic discoveries to transform health care requires:
      • an infrastructure for ensuring quality oversight of genetic/genomic testing laboratories
      • a plan to more quickly integrate new genetic/genomic applications into practice for effective clinical application
      • a prepared workforce that recognizes the risks, benefits, and limitations of genetic/genomic information
      • an infrastructure that provides resources to faculty who prepare this workforce, and
      • policies that support integration of genetic/genomic information and services into health care.
      Based on the growing body of increasingly rigorous research, there is strong evidence that genetics/genomics is having both a national and global impact on health care. Nursing, as the largest and most trusted health care profession in the US recommends the following to transform health care using genetics and genomics:
      • systematic inclusion of genetic and genomic information in all nursing education
      • funding to train and support nursing faculty to integrate genetics and genomics into nursing education
      • funding to implement continuing education programs in genetics and genomics for nurses and other healthcare providers so they may maintain and expand a healthcare provider genetic/genomic knowledge base
      • evidence of genetic/genomic competency for every healthcare provider as a requirement for healthcare institutional accreditation by organizations such as the Joint Commission
      • documentation of genetic/genomic continuing education at the time of license renewal
      • reimbursement for nurses and other healthcare providers from third party payers for assessments that include a genetic/genomic family history
      • funding to establish a nursing research priority plan based on a systematic evaluation of the current state of the science to stimulate research that increases the knowledge base for genetic/genomic nursing through advancing cutting-edge, critical priority areas of research and priority populations for study, and that serves as a model for other health disciplines
      • increased funding to conduct nursing research in genetics and genomics
      • policies that require genetics/genomics to be an essential component of nursing education and delivery of health care, regardless of setting, are essential to accelerate the work of translation and application of genetic/genomic advances for promoting and protecting the health of the public, and
      • active participation by nurses when genetic/genomic policy issues are being debated.

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      Biography

      Kathleen A. Calzone, MSN, RN, APNG, FAAN, is a Senior Nurse Specialist, Research, National Institutes of Health, National Cancer Institute, Center for Cancer Research, Genetics Branch, Bethesda, MD.
      Ann Cashion, PhD, RN, FAAN, is a Professor and Chair, Acute and Chronic Care Department, University of Tennessee Health Science Center, Memphis, TN.
      Suzanne Feetham, PhD, RN, FAAN, is a visiting Professor, College of Nursing, University of Wisconsin-Milwaukee, Milwaukee WI; and Nursing Research Consultant, Children's National Medical Center, Washington, DC.
      Jean Jenkins, PhD, RN, FAAN, is a Senior Clinical Advisor, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD.
      Cynthia A. Prows, MSN, CNS, FAAN, is a Clinical Nurse Specialist, Genetics, Divisions of Patient Services and Human Genetics, Children's Hospital Medical Center, Cincinnati, OH.
      Janet K. Williams, PhD, RN, PNP, FAAN, is a Kelting Professor of Nursing, College of Nursing, The University of Iowa, Iowa City, IA.
      Shu-Fen Wung, PhD, RN, ACNP, FAHA, FAAN, is an Associate Professor, College of Nursing, The University of Arizona, Tucson, AZ.

      Linked Article

      • Correction
        Nursing OutlookVol. 58Issue 3
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          Because of an error on the part of Elsevier, essential information was omitted from the article, “Nurses trans-forming health care using genetics and genomics,” (2010;58[1]:26-35; doi:10.1016/j.outlook.2009.05.001). The paper was originally written as a policy white paper published and viewable at http://www.aan.org . The authors also wish to acknowledge that the paper was made possible by the Robert Wood Johnson Foundation and the American Academy of Nursing's Raise the Voice campaign.
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