Clinical Outcomes Associated With Sickle Cell Trait: A Systematic Review.

Background: Although sickle cell trait (SCT) is largely a benign carrier state, it may increase risk for certain clinical outcomes. Purpose: To evaluate associations between SCT and clinical outcomes in children and adults. Data Sources: English-language searches of PubMed, CINAHL, the Cochrane Library, Current Contents Connect, Scopus, and Embase (1 January 1970 to 30 June 2018) and bibliographies of review articles. Study Selection: Observational controlled studies (published in English) in children or adults that examined an association between SCT and any of 24 clinical outcomes specified a priori in the following 6 categories: exertion-related injury; renal, vascular, pediatric, and surgery- or trauma-related outcomes; and overall mortality. Data Extraction: A single reviewer extracted study data, which was checked by another; 2 reviewers independently assessed study quality; and strength of evidence was assessed by consensus. Data Synthesis: Of 7083 screened studies, 41 met inclusion criteria. High-strength evidence supported a positive association between SCT and risk for pulmonary embolism, proteinuria, and chronic kidney disease. Moderate-strength evidence supported a positive association between SCT and exertional rhabdomyolysis and a null association between SCT and deep venous thrombosis, heart failure or cardiomyopathy, stroke, and pediatric height or weight. Absolute risks for thromboembolism and rhabdomyolysis were small. For the remaining 15 clinical outcomes, data were insufficient or strength of evidence was low. Limitation: Publication bias was possible, and high-quality evidence was scant. Conclusion: Sickle cell trait is a risk factor for a few adverse health outcomes, such as pulmonary embolism, kidney disease, and exertional rhabdomyolysis, but does not seem to be associated with such complications as heart failure and stroke. Insufficient data or low-strength evidence exists for most speculated complications of SCT. Primary Funding Source: National Human Genome Research Institute.

A Comparison of Physicians' and Nurse Practitioners' Use of Race in Clinical Decision-Making.

Objective: The debate over use of race as a proxy for genetic risk of disease continues, but little is known about how primary care providers (nurse practitioners and general internal medicine physicians) currently use race in their clinical practice. Our study investigates primary care providers' use of race in clinical practice. Methods: Survey data from three cross-sectional parent studies were used. A total of 178 nurse practitioners (NPs) and 759 general internal medicine physicians were included. The outcome of interest was the Racial Attributes in Clinical Evaluation (RACE) scale, which measures explicit use of race in clinical decision-making. Predictor variables included the Genetic Variation Knowledge Assessment Index (GKAI), which measures the providers' knowledge of human genetic variation. Results: In the final multivariable model, NPs had an average RACE score that was 1.60 points higher than the physicians' score (P=.03). The GKAI score was not significantly associated with the RACE outcome in the final model (P=.67). Conclusions: Physicians had more knowledge of genetic variation and used patients' race less in the clinical decision-making process than NPs. We speculate that these differences may be related to differences in discipline-specific clinical training and approaches to clinical care. Further exploration of these differences is needed, including examination of physicians' and NPs' beliefs about race, how they use race in disease screening and treatment, and if the use of race is contributing to health care disparities.

Hospital nursing leadership-led interventions increased genomic awareness and educational intent in Magnet settings.

BACKGROUND: The Precision Medicine Initiative will accelerate genomic discoveries that improve health care, necessitating a genomic competent workforce. PURPOSE: This study assessed leadership team (administrator/educator) year-long interventions to improve registered nurses' (RNs) capacity to integrate genomics into practice. METHODS: We examined genomic competency outcomes in 8,150 RNs. FINDINGS: Awareness and intention to learn more increased compared with controls. Findings suggest achieving genomic competency requires a longer intervention and support strategies such as infrastructure and policies. Leadership played a role in mobilizing staff, resources, and supporting infrastructure to sustain a large-scale competency effort on an institutional basis. DISCUSSION: Results demonstrate genomic workforce competency can be attained with leadership support and sufficient time. Our study provides evidence of the critical role health-care leaders play in facilitating genomic integration into health care to improve patient outcomes. Genomics' impact on quality, safety, and cost indicate a leader-initiated national competency effort is achievable and warranted.

Pharmacogenomics competencies in pharmacy practice: A blueprint for change.

The emerging use of genomic data to inform medication therapy populates the medical literature and provides evidence for guidelines in the prescribing information for many medications. Despite the availability of pharmacogenomic studies, few pharmacists feel competent to use these new data in patient care. The first pharmacogenomics competency statement for pharmacists was published in 2002. In 2011, the Pharmacogenomics Special Interest Group of the American Association of Colleges of Pharmacy led a process to update this competency statement with the use of a consensus-based method that incorporated input from multiple key professional pharmacy organizations to reflect growth in genomic science as well as the need for pharmacist application of genomic data. Given the rapidly evolving science, educational needs, and practice models in this area, a standardized competency-based approach to pharmacist education and training in pharmacogenomics is needed to equip pharmacists for leadership roles as essential members of health care teams that implement clinical utilization strategies for genomic data.

Nurses' Use of Race in Clinical Decision Making.

PURPOSE: To examine nurses' self-reported use of race in clinical evaluation. DESIGN: This cross-sectional study analyzed data collected from three separate studies using the Genetics and Genomics in Nursing Practice Survey, which includes items about use of race and genomic information in nursing practice. The Racial Attributes in Clinical Evaluation (RACE) scale was used to measure explicit clinical use of race among nurses from across the United States. METHODS: Multivariate regression analysis was used to examine associations between RACE score and individual-level characteristics and beliefs in 5,733 registered nurses. FINDINGS: Analysis revealed significant relationships between RACE score and nurses' race and ethnicity, educational level, and views on the clinical importance of patient demographic characteristics. Asian nurses reported RACE scores 1.41 points higher than White nurses (p < .001), and Black nurses reported RACE scores 0.55 points higher than White nurses (p < .05). Compared to diploma-level nurses, the baccalaureate-level nurses reported 0.69 points higher RACE scores (p < .05), master's-level nurses reported 1.63 points higher RACE scores (p < .001), and doctorate-level nurses reported 1.77 points higher RACE scores (p < .01). In terms of clinical importance of patient characteristics, patient race and ethnicity corresponded to a 0.54-point increase in RACE score (p < .001), patient genes to a 0.21-point increase in RACE score (p < .001), patient family history to a 0.15-point increase in RACE score (p < .01), and patient age to a 0.19-point increase in RACE score (p < .001). CONCLUSIONS: Higher reported use of race among minority nurses may be due, in part, to differential levels of racial self-awareness. A relatively linear positive relationship between level of nursing degree nursing education and use of race suggests that a stronger foundation of knowledge about genetic ancestry, population genetics and the concept "race" and genetic ancestry may increase in clinical decision making could allow nurses to more appropriately use of race in clinical care. Integrating patient demographic characteristics into clinical decisions is an important component of nursing practice. CLINICAL RELEVANCE: Registered nurses provide care for diverse racial and ethnic patient populations and stand on the front line of clinical care, making them essential for reducing racial and ethnic disparities in healthcare delivery. Exploring registered nurses' individual-level characteristics and clinical use of race may provide a more comprehensive understanding of specific training needs and inform nursing education and practice.

Methods of genomic competency integration in practice.

PURPOSE: Genomics is increasingly relevant to health care, necessitating support for nurses to incorporate genomic competencies into practice. The primary aim of this project was to develop, implement, and evaluate a year-long genomic education intervention that trained, supported, and supervised institutional administrator and educator champion dyads to increase nursing capacity to integrate genomics through assessments of program satisfaction and institutional achieved outcomes. DESIGN: Longitudinal study of 23 Magnet Recognition Program® Hospitals (21 intervention, 2 controls) participating in a 1-year new competency integration effort aimed at increasing genomic nursing competency and overcoming barriers to genomics integration in practice. METHODS: Champion dyads underwent genomic training consisting of one in-person kick-off training meeting followed by monthly education webinars. Champion dyads designed institution-specific action plans detailing objectives, methods or strategies used to engage and educate nursing staff, timeline for implementation, and outcomes achieved. Action plans focused on a minimum of seven genomic priority areas: champion dyad personal development; practice assessment; policy content assessment; staff knowledge needs assessment; staff development; plans for integration; and anticipated obstacles and challenges. Action plans were updated quarterly, outlining progress made as well as inclusion of new methods or strategies. Progress was validated through virtual site visits with the champion dyads and chief nursing officers. Descriptive data were collected on all strategies or methods utilized, and timeline for achievement. Descriptive data were analyzed using content analysis. FINDINGS: The complexity of the competency content and the uniqueness of social systems and infrastructure resulted in a significant variation of champion dyad interventions. CONCLUSIONS: Nursing champions can facilitate change in genomic nursing capacity through varied strategies but require substantial training in order to design and implement interventions. CLINICAL RELEVANCE: Genomics is critical to the practice of all nurses. There is a great opportunity and interest to address genomic knowledge deficits in the practicing nurse workforce as a strategy to improve patient outcomes. Exemplars of champion dyad interventions designed to increase nursing capacity focus on improving education, policy, and healthcare services.

Multi-ethnic minority nurses' knowledge and practice of genetics and genomics.

PURPOSE: Exploratory studies establishing how well nurses have integrated genomics into practice have demonstrated there remains opportunity for education. However, little is known about educational gaps in multi-ethnic minority nurse populations. The purpose of this study was to determine minority nurses' beliefs, practices, and competency in integrating genetics-genomics information into practice using an online survey tool. DESIGN: A cross-sectional survey with registered nurses (RNs) from the participating National Coalition of Ethnic Minority Organizations (NCEMNA). Two phases were used: Phase one had a sample of 27 nurses who determined the feasibility of an online approach to survey completion and need for tool revision. Phase two was a main survey with 389 participants who completed the revised survey. The survey ascertained the genomic knowledge, beliefs, and practice of a sample of multi-ethnic minority nurses who were members of associations comprising the NCEMNA. METHODS: The survey was administered online. Descriptive survey responses were analyzed using frequencies and percentages. Categorical responses in which comparisons were analyzed used chi square tests. FINDINGS: About 40% of the respondents held a master's degree (39%) and 42% worked in direct patient care. The majority of respondents (79%) reported that education in genomics was important. Ninety-five percent agreed or strongly agreed that family health history could identify at-risk families, 85% reported knowing how to complete a second- and third-generation family history, and 63% felt family history was important to nursing. Conversely, 50% of the respondents felt that their understanding of the genetics of common disease was fair or poor, supported by 54% incorrectly reporting they thought heart disease and diabetes are caused by a single gene variant. Only 30% reported taking a genetics course since licensure, and 94% reported interest in learning more about genomics. Eighty-four percent believed that their ethnic minority nurses' organizations should have a visible role in genetics and genomics in their communities. CONCLUSIONS: Most respondents felt genomics is important to integrate into practice but demonstrated knowledge deficits. There was strong interest in the need for continuing education and the role of the ethnic minority organizations in facilitating the continuing education efforts. This study provides evidence of the need for targeted genomic education to prepare ethnic minority nurses to better translate genetics and genomics into practice. CLINICAL RELEVANCE: Genomics is critical to the practice of all nurses, most especially family health history assessment and the genomics of common complex diseases. There is a great opportunity and interest to address the genetic-genomic knowledge deficits in the nursing workforce as a strategy to impact patient outcomes.

What does it mean to be genomically literate?: National Human Genome Research Institute Meeting Report.

Genomic discoveries will increasingly advance the science of medicine. Limited genomic literacy may adversely impact the public's understanding and use of the power of genetics and genomics in health care and public health. In November 2011, a meeting was held by the National Human Genome Research Institute to examine the challenge of achieving genomic literacy for the general public, from kindergarten to grade 12 to adult education. The role of the media in disseminating scientific messages and in perpetuating or reducing misconceptions was also discussed. Workshop participants agreed that genomic literacy will be achieved only through active engagement between genomics experts and the varied constituencies that comprise the public. This report summarizes the background, content, and outcomes from this meeting, including recommendations for a research agenda to inform decisions about how to advance genomic literacy in our society.

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).

Survey of nursing integration of genomics into nursing practice.

PURPOSE: Translating clinically valid genomic discoveries into practice is hinged not only on technologic advances, but also on nurses-the largest global contingent of health providers-acquiring requisite competencies to apply these discoveries in clinical care. The study aim was to assess practicing nurse attitudes, practices, receptivity, confidence, and competency of integrating genomics into nursing practice. DESIGN: A convenience sample of practicing nurses was recruited to complete an online survey that assessed domains from Roger's Diffusion of Innovations Theory and used family history utilization as the basis for competency assessment. METHODS: Results were tabulated and analyzed using descriptive statistical techniques. FINDINGS: Two-hundred-thirty-nine licensed registered nurses, 22 to 72 years of age, with a median of 20 years in practice, responded, for an overall response rate of 28%. Most were White (83%), female (92%), and held baccalaureate degrees (56%). Seventy-one percent considered genetics to be very important to nursing practice; however, 81% rated their understanding of the genetics of common diseases as poor or fair. Per-question response rates varied widely. Instrument assessment indicated that modifications were necessary to decrease respondent burden. CONCLUSIONS: Respondents' perceived genomic competency was inadequate, family history was not routinely utilized in care delivery, and the extent of family history varied widely. However, most nurses indicated interest in pursuing continuing genomic education. CLINICAL RELEVANCE: Findings from this study can lead to the development of targeted education that will facilitate optimal workforce preparation for the ongoing influx of genetics and genomics information, technologies, and targeted therapies into the healthcare arena. This pilot study provides a foundation on which to build the next step, which includes a national nursing workforce study.

Genomic education resources for nursing faculty.

PURPOSE: The increasing recognition regarding the relevance of genomics across the scope of nursing healthcare practice has resulted in the drive to integrate appropriate genomic knowledge and skills into nurse education and training. In this final article of the series Genetics-Genomics and Nursing Education, we will look at genetic and genomic education resources and the factors that influence both their creation and use. ORGANIZING CONSTRUCT: In considering nurse education from faculty and student perspectives, four identified areas of need have been used as the organizing constructs: guidance (what should be taught and at what level of complexity); support and training; access to genetics professionals and service users; and quality resources. This paper sets out to address the following points: (a) why there is a need for quality genomics education resources to support nurse education; (b) what is required from a resource to make it "useful" for the user; and (c) how the quality and impact of a resource can be measured. While not exhaustive, information is provided to a number of globally accessible resources, along with detailed descriptions of selected teaching or learning tools. Strategies for evaluating the suitability of a resource and suggestions on how genomic resources can be used within nurse education are provided. CONCLUSIONS: The use of clinically relevant resources that link theory to professional practice and which meet predefined learning outcomes and practice indicators for nurse education and training will facilitate the integration of genomics into curricula by nurse faculty. CLINICAL RELEVANCE: Providing clinically meaningful education and training in genomics is central to enabling every nurse to develop the appropriate knowledge and skills in genomics in order to provide optimum care to individuals and families now, and to facilitate the integration of new information and technology as it becomes available across mainstream healthcare services.

Establishment of the genetic/genomic competency center for education.

PURPOSE: Develop a trans-disciplinary repository of genomics education resources using a Web-based learning management system. The repository maps and organizes genetic-genomic information and materials relevant to educators by healthcare discipline-specific competencies and performance indicators. METHODS: An interdisciplinary project team was established to guide toolkit repository building and usability testing. The toolkit was built using the X-CREDIT software on the Moodle learning management platform, which includes a mapping matrix and browsing function that captures teaching resources in a searchable database linked to competencies, knowledge areas, performance indicators, learning activities and resources, and outcome assessments. Discipline-specific advisory groups assisted in resource identification, competency mapping, and peer review. The toolkit is multidisciplinary, currently including physician assistants and nurses, and provides a resource crosslink to discipline-specific competencies. All resources have a detailed description, and users may contribute new resources, which are peer reviewed for relevance and accuracy by an editorial board. Alpha and beta testing using online usability surveys that included toolkit exercises helped refine the structure, look, and navigation of the final website. FINDINGS: One hundred thirty faculty-124 nursing and 6 physician assistant faculty-agreed to participate. Of those, 59 users (45.4% response rate) completed the online usability survey. Nearly all users (94.9%) were able to find a competency that was relevant to their topic, and 85.4% were able to locate the relevant performance indicators. The majority (86.5%) felt the model adequately described the relationships between competencies, performance indicators, learning activities-resources, and assessments, and made conceptual sense. Survey respondents reported font color and size made the information difficult to read, windows were not large enough, and the "shopping cart" concept was confusing; all of these areas have been modified for the final toolkit version. CONCLUSIONS: Alpha and beta testing of the toolkit revealed that users can successfully obtain educational materials by searching competencies and performance indicators. The platform is accessible on the Internet at http://www.g-2-c-2.org and can be continually updated as new resources become available. CLINICAL RELEVANCE: Faculty members need easy access to a wide range of accurate, current resources to facilitate integration of genomics into the curriculum.

Genomics education in nursing in the United States.

Discovery of the genetics/genomics underpinnings of health, risk for disease, sickness, and treatment response have the prospects of improving recognition and management of at risk individuals; improving screening, prognostics, and therapeutic decision-making; expanding targeted therapies; and improving the accuracy of medication dosing and selection based on drug metabolism genetic variation. Thus, genetics/genomics science, information, and technologies influence the entire health care continuum and are fundamental to the nursing profession. Translating the benefits of genetics and genomics into health care requires that nurses are knowledgeable about and able to integrate this information and technology into their practice. This chapter explores the development of essential nursing competences in genetics and genomics and outcome indicators. Included is an overview of projects aimed at measuring and/or supporting adoption and integration of such competencies. Included as well is an update reviewing current evidence of the state of genomics nursing education in the United States and recommendations for next steps.

Generation after generation: exploring the psychological impact of providing genetic services through a cascading approach.

PURPOSE: The provision of genetic services often occurs in a cascading fashion within families experiencing inherited diseases. This study examines whether previous family experiences with genetic services influences levels of psychological well-being of family members receiving services later. METHODS: Two hundred ninety-seven persons from 38 families with Lynch syndrome completed questionnaires before receiving genetic services. Baseline levels of test-related distress, depressive symptoms, and cancer worries were assessed in relationship to the (1) amount of time elapsed since services were provided to the index case and (2) generation of the family member relative to the index case. RESULTS: Family members in the same generation as the index case experienced significant increases in test-related distress (P = 0.003) and cancer worry (P = 0.001) with increasing time between receipt of genetic test results by the index case and provision of services to family members. Change in the number of depressive symptoms was not significant (P = 0.17). CONCLUSION: The provision of genetic services through a cascading approach significantly increases distress and worry among family members within the same generation as the index case who receive services at increasingly distant time intervals. Additional research is needed to explore social influences after the introduction of genetic services.

DNA: What's your story?

This is a pivotal time in history. We now recognize the implications of our uniquely personal DNA blueprint (i.e., genetics/genomics) for health and illness, and scientific research is rapidly unraveling the secrets of what that blueprint personally means to each of us. Listening to what patients have to say about the use of DNA in their health care can strengthen your role in creating a new paradigm for education and service delivery. Stories are an amazing way to reach out, connect, and learn from others about what they are going through. Stories are important in highlighting the relevancy of DNA in clinical care for patients and providers. The power and potential of the patient voice is something I have been striving to capture as the reality of genomic healthcare unfolds (DNAandU.org). The knowledge base provided by DNA stories has great potential, but only if representative of the voices of many. Nurse practitioners have an important role in accessing stories to learn, to teach, to plan for the future, and to inspire possibilities.

Genomic Health Care Today and Tomorrow: Expert Perspectives.

OBJECTIVE: To provide expert personal perspectives of genomic health care and what is needed for nursing to prepare for today as well as for the future. DATA SOURCES: Personal interviews and published literature. CONCLUSION: A future that includes genomic information as part of health care is exciting, enlightening, and challenging. Nurses must maintain a holistic vision for implementing genomic health care today and tomorrow. IMPLICATIONS FOR NURSING PRACTICE: Oncology nurses have opportunities to integrate genomic information within their practice, education, and research to improve patient outcomes.

Too many referrals of low-risk women for BRCA1/2 genetic services by family physicians.

The increasing availability and public awareness of BRCA1/2 genetic testing will increase women's self-referrals to genetic services. The objective of this study was to examine whether patient characteristics influence the referral decisions of family physicians when a patient requests BRCA1/2 genetic testing. Family physicians (n = 284) completed a Web-based survey in 2006 to assess their attitudes and practices related to the use of genetics in their clinical practice. Using a 2 x 2 x 2 factorial design, we tested the effects of a hypothetical patient's race, level of worry, and insurance status on the decisions of family physicians to refer her for BRCA1/2 testing. The patient was not appropriate for referral based on U.S. Preventive Services Task Force guidelines. No patient characteristics were associated with the family physicians' referral decisions. Although referral was not indicated, only 8% did not refer to genetic services; 92% referred for genetic services, and 50% referred to genetic counseling. Family physicians regarded it unlikely that the patient carried a mutation, but 65% of family physicians believed that if they refused to refer for genetic services it would harm their relationship with the patient. Despite scarce and costly genetic services, family physicians were likely to inappropriately refer a low-risk patient who requested BRCA1/2 testing. The implications of this inappropriate referral on women's screening behavior, genetic services, and health care costs are unknown. Clinicians and patients could benefit from education about the appropriate use of genetic services so that both are more comfortable with a decision against referral.

Family physicians' beliefs about genetic contributions to racial/ethnic and gender differences in health and clinical decision-making.

Greater attention towards genetics as a contributor to group health differences may lead to inappropriate use of race/ethnicity and gender as genetic heuristics and exacerbate health disparities. As part of a web-based survey, 1,035 family physicians (FPs) rated the contribution of genetics and environment to racial/ethnic and gender differences in health outcomes, and the importance of race/ethnicity and gender in their clinical decision-making. FPs attributed racial/ethnic and gender differences in health outcomes equally to environment and genetics. These beliefs were not associated with rated importance of race/ethnicity or gender in clinical decision-making. FPs appreciate the complexity of genetic and environmental influences on health differences by race/ethnicity and gender.

Explaining renal treatment to people with learning disabilities.

Patients with chronic kidney disease need to understand different treatment options if they are to make informed choices about which to accept. This article outlines the development of a booklet designed to improve information-giving to people with learning disabilities who have CKD.