Diane Seibert

A Blueprint for Genomic Nursing Science

PURPOSE This article reports on recommendations arising from an invitational workshop series held at the National Institutes of Health for the purposes of identifying critical genomics problems important to the health of the public that can be addressed through nursing science. The overall purpose of the Genomic Nursing State of the Science Initiative is to establish a nursing research blueprint based on gaps in the evidence and expert evaluation of the current state of the science and through public comment. ORGANIZING CONSTRUCTS A Genomic Nursing State of the Science Advisory Panel was convened in 2012 to develop the nursing research blueprint. The Advisory Panel, which met via two webinars and two in-person meetings, considered existing evidence from evidence reviews, testimony from key stakeholder groups, presentations from experts in research synthesis, and public comment. FINDINGS The genomic nursing science blueprint arising from the Genomic Nursing State of Science Advisory Panel focuses on biologic plausibility studies as well as interventions likely to improve a variety of outcomes (e.g., clinical, economic, environmental). It also includes all care settings and diverse populations. The focus is on (a) the client, defined as person, family, community, or population; (b) the context, targeting informatics support systems, capacity building, education, and environmental influences; and (c) cross-cutting themes. It was agreed that building capacity to measure the impact of nursing actions on costs, quality, and outcomes of patient care is a strategic and scientific priority if findings are to be synthesized and aggregated to inform practice and policy. CONCLUSIONS The genomic nursing science blueprint provides the framework for furthering genomic nursing science to improve health outcomes. This blueprint is an independent recommendation of the Advisory Panel with input from the public and is not a policy statement of the National Institutes of Health or the federal government. CLINICAL RELEVANCE This genomic nursing science blueprint targets research to build the evidence base to inform integration of genomics into nursing practice and regulation (such as nursing licensure requirements, institutional accreditation, and academic nursing school accreditation).

Knowledge, Perceptions, and Attitudes of Advanced Practice Nursing Students Regarding Medical Genetics

Purpose To describe the current medical genetic knowledge and perceptions of graduate advanced practice nursing (advanced practice nurse [APN]/nurse practitioner and nurse anesthetist) students using survey data for future integration of genetic topics, principles, and healthcare issues into curriculum. Data sources Survey data of APNs’ perceived knowledge of genetics and a review of the literature from past research studies of students and current articles from professional journals and organizations. Web sites were those of the National Coalition of Health Professions for Education in Genetics and National Institutes of Health, Human Genome Research Institute; professional organizations; and the authors’ professional, clinical, and educational experiences. Conclusions Most APN students perceived they had minimum knowledge and prior training regarding medical genetics. There is a need to integrate genetic concepts, principles, and medical conditions into advanced practice nursing curriculum and to provide clinical experiences in genetic conditions across the life span and throughout the health and illness spectrum. APN students have positive attitudes toward integrating genetics into graduate curricula. Potential methods for program integration include readings, small group discussion, standardized patients, and role‐play as measures to increase information. Implications for practice The National Coalition for Health Profession Education in Genetics, the American Nursing Association, and the American College of Nursing Education have recommended integration of genetics knowledge and skills into routine health care to provide effective interventions for individuals and families. However, previous research and data from this study have revealed that many nurses have minimal training in genetics. Advanced practice nurses must be knowledgeable on genetic principles, topics, and the ethical, legal, and social implications related to medical genetics to increase the ability to diagnose, prevent, and treat diseases and to provide effective care for individuals and families.

Recognition of Tuberous Sclerosis in Adult Women: Delayed Presentation With Life-Threatening Consequences

BACKGROUND Tuberous sclerosis complex (TSC) is associated with tumor development in the brain, retina, kidney, skin, heart, and lung. Seizures, intellectual disability, and characteristic skin lesions commonly manifest in early childhood, but some findings, notably renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM), emerge later, placing adults with undiagnosed TSC at increased risk for morbidity and mortality. OBJECTIVE To describe the clinical presentation and severity of TSC in adult women. DESIGN Retrospective cohort study. SETTING National Institutes of Health Clinical Center, Bethesda, Maryland, 1995 to 2010. PATIENTS 79 women aged 18 years or older who were enrolled in an observational cohort study of TSC to evaluate disease manifestations. MEASUREMENTS History, physical examination, pulmonary function testing, chest radiography, abdominal computed tomography, high-resolution chest computed tomography, and brain magnetic resonance imaging were used to evaluate patients. RESULTS Among the 45 patients who received a diagnosis of TSC in adulthood, 21 presented with symptoms due to LAM, 19 with renal angiomyolipomas, and 10 with seizures. Of the 45 patients, 30 met clinical criteria for TSC in childhood that remained undiagnosed for a median of 21.5 years and 15 were older than 18 years before meeting the clinical criteria for TSC. Patients diagnosed in adulthood and those diagnosed in childhood had similar occurrences of pneumothorax, shortness of breath, hemoptysis, nephrectomy, and death. LIMITATION No men were included in the study, and selection was biased toward patients having pulmonary LAM. CONCLUSION Women who received a TSC diagnosis in adulthood had minimal morbidity during childhood but were still at risk for life-threatening pulmonary and renal manifestations. PRIMARY FUNDING SOURCE Intramural Research Program, National Institutes of Health, National Heart, Lung, and Blood Institute.

Adult weight management: Translating research and guidelines into practice

Purpose: To provide a practical approach to managing overweight and obese adult patients based on data from research and recommendations from established guidelines. Data sources: Comprehensive review articles and original research articles identified through Medline and the Cumulative Index to Nursing and Allied Health Literature (CINAHL). Conclusions: There is a great deal of research being conducted on new ways to treat obesity; however, despite all this new information, many primary care providers continue to report that they do not address weight or weight control strategies with their patients. Reasons include too little time, not enough training, lack of financial incentive, and failure to believe that patients can be successful. Implications for practice: Weight management essentially comes down to one key concept: negative energy balance (fewer calories in and/or more calories out). Patients can be taught how to achieve a negative energy balance by using a food/exercise diary to track their daily caloric goal to achieve a 1‐2 pound weight loss per week. Nurse practitioners (NPs) can implement safe and effective weight management plans for their patients by teaching them how to self‐monitor, eat healthy, and exercise. This method is similar to what NPs commonly use for patients with diabetes mellitus.

Development of the essential genetic and genomic competencies for nurses with graduate degrees.

Scientific advances in genetics and genomics are rapidly redefining our understanding of health and illness and creating a significant shift in practice for all health care disciplines. Nurses educated at the graduate level are well-prepared to assume clinical and leadership roles in health care systems and must also be prepared to assume similar roles related to genetic/genomic health care. This chapter describes the processes used to create a consensus document identifying the genetic/genomic competencies essential for nurses prepared at the graduate level. Three groups were involved in the competency development; a steering committee provided leadership and used qualitative methods to review and analyze pertinent source documents and create an initial competency draft; an advisory board evaluated and revised the draft, and a consensus panel refined and validated the final set of competencies. The concensus process resulted in 38 competencies organized under the following categories: Risk Assessment and Interpretation; Genetic Education, Counseling, Testing and Results Interpretation; Clinical Management; Ethical, Legal, and Social Implications; Professional Role; Leadership, and Research. These competencies apply to all individuals functioning at the graduate level in nursing, including but not limited to advanced practice registered nurses, clinical nurse leaders, nurse educators, nurse administrators, and nurse scientists and are intended to inform and guide their practice.

Integrating Genetics into Advanced Practice Nursing Curriculum: Strategies for Success

Keeping up with the volume of new genetic information emerging from the human genome project is a challenge for almost all healthcare providers, but nurses who received little or no formal genetic training often find it particularly intimidating. Nursing faculty may be reluctant to add genetic content to existing courses, much less tackle the work of teaching an entire course in genetics. This article provides nursing faculty with some strategies and straightforward curriculum modifications to assist them in integrating genetic content into graduate-level nursing curriculum. Advanced Practice Nurses in particular should understand genetics well enough to be aware of and appreciate the wide variety of genetic conditions that might be encountered in a clinical setting. The authors offer practical suggestions for incorporating genetics into Advanced Practice Nursing curricula.

Twenty questions in genetic medicine—an assessment of World Wide Web databases for genetics information at the point of care

Purpose: The aim of this article was to determine the accuracy and efficiency of World Wide Web (“Web”) resources to help nongeneticists answer four clinical questions about each of five common genetic conditions.Methods: Correct answers were established by literature review. Two open-access genetics resources and seven general subscription resources were reviewed. Scoring criteria were established to define complete, partial, vague, inconsistent, not found, and wrong answers. The main outcome measures were number of answers found, accuracy, and completeness of answers. Efficiency (time per answer found) was a secondary measure.Results: Overall, the databases contained complete answers 33.3% of the time but contained no information as frequently (33.9%). The best database had complete answers 70% of the time, whereas the worst contained no complete answers. Five of the seven subscription databases had a total of eight wrong answers. The other two subscription databases and the two open-access genetics databases had no wrong answers. Search time ranged from 3.2 to 18.3 minutes per complete answer.Conclusions: Nongeneticist providers do not have a Web resource that is accessible, accurate, and efficient to answer genetic questions that might arise in practice.

Clinical skill and knowledge requirements of health care providers caring for children in disaster, humanitarian and civic assistance operations: an integrative review of the literature.

INTRODUCTION Military health care providers (HCPs) have an integral role during disaster, humanitarian, and civic assistance (DHCA) missions. Since 50% of patients seen in these settings are children, military providers must be prepared to deliver this care. PURPOSE The purpose of this systematic, integrative review of the literature was to describe the knowledge and clinical skills military health care providers need in order to provide care for pediatric outpatients during DHCA operations. DATA SOURCES A systematic search protocol was developed in conjunction with a research librarian. Searches of PubMed and CINAHL were conducted using terms such as Disaster*, Geological Processes, and Military Personnel. Thirty-one articles were included from database and manual searches. CONCLUSIONS Infectious diseases, vaccines, malnutrition, sanitation and wound care were among the most frequently mentioned of the 49 themes emerging from the literature. Concepts included endemic, environmental, vector-borne and vaccine-preventable diseases; enhanced pediatric primary care; and skills and knowledge specific to disaster, humanitarian and civic assistance operations. IMPLICATIONS FOR PRACTICE The information provided is a critical step in developing curriculum specific to caring for children in DHCA. While the focus was military HCPs, the knowledge is easily translated to civilian HCPs who provide care to children in these situations.

5-years later - have faculty integrated medical genetics into nurse practitioner curriculum?

Abstract Many genetic/genomic educational opportunities are available to assist nursing faculty in their knowledge and understanding of genetic/genomics. This study was conducted to assess advance practice nursing faculty members’ current knowledge of medical genetics/genomics, their integration of genetics/genomics content into advance practice nursing curricula, any prior formal training/education in genetics/genomics, and their comfort level in teaching genetics/genomic content. A secondary aim was to conduct a comparative analysis of the 2010 data to a previous study conducted in 2005, to determine changes that have taken place during that time period. During a national nurse practitioner faculty conference, 85 nurse practitioner faculty voluntarily completed surveys. Approximately 70% of the 2010 faculty felt comfortable teaching basic genetic/genomic concepts compared to 50% in 2005. However, there continue to be education gaps in the genetic/genomic content taught to advance practice nursing students. If nurses are going to be a crucial member of the health-care team, they must achieve the requisite competencies to deliver the increasingly complex care patients require.

Military Interprofessional Health Care Teams: How USU is Working to Harness the Power of Collaboration

Despite efforts to increase patient safety, hundreds of thousands of lives are lost each year to preventable health care errors. The Institute of Medicine and other organizations have recommended that facilitating effective interprofessional health care team work can help address this problem. While the concept of interprofessional health care teams is known, understanding and organizing effective team performance have proven to be elusive goals. Although considerable research has been conducted in the civilian sector, scholars have yet to extend research to the military context. Indeed, delivering the highest caliber of health care to our service men and women is vitally important. This commentary describes a new initiative as the Uniformed Services University of the Health Sciences aimed at researching the characteristics of successful military interprofessional teams and why those characteristics are important. It also describes the interprofessional education initiative that Uniformed Services University is launching to help optimize U.S. military health care.