RESUMO
INTRODUCTION: Genomic healthcare applications have relevance to all healthcare professionals including nursing, and most evidence-based clinical applications impact the quality and safety of healthcare. To guide nursing genomic competency initiatives, the Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics were established through a process of consensus in 2005. A 2009 update incorporated outcome indicators consisting of specific areas of knowledge and clinical performance indicators, to help support academic integration. Almost 20 years have elapsed since these competencies were first established, yet incorporating the competencies into general and specialty scope and standards of nursing practice is inconsistent, competency integration into curricula is highly uneven, continuing education in genomics for nurses is limited, and the genomic capacity of the nursing workforce remains low. These deficits have persisted despite substantial advances in genomic technology which substantially reduced costs and increased evidence-based clinical applications, including direct to consumer genomic tests, the integration of genomics into evidence-based guidelines, and evidence that genomics impacts the quality and safety of healthcare. DESIGN: The aim of this project was to update and achieve consensus on genomic competencies applicable to all registered nurses. This was a mixed methods study. METHODS: The update to the competencies was performed based first on a literature review to update the competencies based on the current state of the evidence. Using the updated content, a modified Delphi study was conducted with registered nurse panelists from clinical, academic, and research settings. Once consensus was achieved, the competencies were made available through the American Nurses Association for public comment. Public comments were then reviewed and integrated as needed. RESULTS: The literature review resulted in a transition from genetics to genomics, given the reduction in costs, which resulted in an expansion of the scope of testing in both the germline and somatic contexts. Two Delphi rounds were required to reach consensus prior to the public comment period. Public comments were solicited through the American Nurses Association, and each comment was reviewed by the authors and addressed as indicated. CONCLUSION: The Essentials of Genomic Nursing: Competencies and Outcome Indicators constitute the minimum competency in genomics required of all registered nurses regardless of the level of academic training, role, or specialty. CLINICAL RELEVANCE: Evidence-based genomic applications span the entire healthcare continuum and, therefore, are relevant for all registered nurses regardless of academic training, role, practice setting, or clinical expertise. These competencies serve as the guide for the minimum requirements for registered nurse practice as well as guide curricula and continuing education for all registered nurses, including but not limited to administrators, educators, nursing leaders, practicing nurses, and researchers.
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Competência Clínica , Genômica , Humanos , Competência Clínica/normas , Genômica/educação , Currículo/normas , Técnica DelphiRESUMO
AIM: To learn from two jurisdictions with mature genomics-informed nursing policy infrastructure-the United States (US) and the United Kingdom (UK)-to inform policy development for genomics-informed oncology nursing practice and education in Canada. DESIGN: Comparative document and policy analysis drawing on the 3i + E framework. METHODS: We drew on the principles of a rapid review and identified academic literature, grey literature and nursing policy documents through a systematic search of two databases, a website search of national genomics nursing and oncology nursing organizations in the US and UK, and recommendations from subject matter experts on an international advisory committee. A total of 94 documents informed our analysis. RESULTS: We found several types of policy documents guiding genomics-informed nursing practice and education in the US and UK. These included position statements, policy advocacy briefs, competencies, scope and standards of practice and education and curriculum frameworks. Examples of drivers that influenced policy development included nurses' values in aligning with evidence and meeting public expectations, strong nurse leaders, policy networks and shifting healthcare and policy landscapes. CONCLUSION: Our analysis of nursing policy infrastructure in the US and UK provides a framework to guide policy recommendations to accelerate the integration of genomics into Canadian oncology nursing practice and education. IMPLICATIONS FOR THE PROFESSION: Findings can assist Canadian oncology nurses in developing nursing policy infrastructure that supports full participation in safe and equitable genomics-informed oncology nursing practice and education within an interprofessional context. IMPACT: This study informs Canadian policy development for genomics-informed oncology nursing education and practice. The experiences of other countries demonstrate that change is incremental, and investment from strong advocates and collaborators can accelerate the integration of genomics into nursing. Though this research focuses on oncology nursing, it may also inform other nursing practice contexts influenced by genomics.
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Genômica , Política de Saúde , Enfermagem Oncológica , Canadá , Humanos , Estados Unidos , Reino Unido , Formulação de PolíticasRESUMO
Survival from malignant mesothelioma, particularly pleural mesothelioma, is very poor. For patients with breast, ovarian, or prostate cancers, overall survival is associated with increased sensitivity to platinum chemotherapy due to loss-of-function mutations in DNA repair genes. The goal of this project was to evaluate, in patients with malignant mesothelioma, the relationship between inherited loss-of-function mutations in DNA repair and other tumor suppressor genes and overall survival following platinum chemotherapy. Patients with histologically confirmed malignant mesothelioma were evaluated for inherited mutations in tumor suppressor genes. Survival was evaluated with respect to genotype and site of mesothelioma. Among 385 patients treated with platinum chemotherapy, median overall survival was significantly longer for patients with loss-of-function mutations in any of the targeted genes compared with patients with no such mutation (P = 0.0006). The effect of genotype was highly significant for patients with pleural mesothelioma (median survival 7.9 y versus 2.4 y, P = 0.0012), but not for patients with peritoneal mesothelioma (median survival 8.2 y versus 5.4 y, P = 0.47). Effect of patient genotype on overall survival, measured at 3 y, remained independently significant after adjusting for gender and age at diagnosis, two other known prognostic factors. Patients with pleural mesothelioma with inherited mutations in DNA repair and other tumor suppressor genes appear to particularly benefit from platinum chemotherapy compared with patients without inherited mutations. These patients may also benefit from other DNA repair targeted therapies such as poly-ADP ribose polymerase (PARP) inhibitors.
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Mesotelioma/genética , Mesotelioma/mortalidade , Adulto , Idoso , Idoso de 80 Anos ou mais , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Reparo do DNA/genética , Feminino , Predisposição Genética para Doença/genética , Mutação em Linhagem Germinativa , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/mortalidade , Masculino , Mesotelioma/tratamento farmacológico , Mesotelioma Maligno , Pessoa de Meia-Idade , Platina/uso terapêutico , Neoplasias Pleurais/genética , Neoplasias Pleurais/mortalidade , Análise de Sobrevida , Proteínas Supressoras de Tumor/genética , Ubiquitina Tiolesterase/genética , Adulto JovemRESUMO
Pathogenic/likely pathogenic variants (PLPV) in CDH1 are associated with a significantly increased lifetime risk for diffuse gastric cancer, with an average age of onset of 47 years. CDH1 PLPV carriers are recommended to have prophylactic total gastrectomy (PTG) or routine endoscopy surveillance. Emerging adults (EAs) may have unique circumstances that affect their medical management decision-making about PTG versus endoscopy. The study aim was to use qualitative interpretative phenomenological analysis method to understand the lived experience and medical management decision-making process for EAs carrying a CDH1 PLPV. Eligible participants were unaffected CDH1 PLPV carriers, ages 18 to 29, who had not undergone PTG and had discussed CDH1 medical management with a health provider. Semi-structured telephone interviews were transcribed verbatim and analyzed for major themes. Results show EAs wanted to avoid developing diffuse gastric cancer, but most do not feel they are ready for PTG. They had worries about PTG related to their identity exploration, financial stability, and careers. Most did not want to pass the PLPV to their children; however, the cost of preimplantation genetic testing with in vitro fertilization was a concern. Family medical history and self-understanding of endoscopy and PTG highly influenced medical management decision-making. Understanding of diffuse gastric cancer detection rate using endoscopy was inconsistent among participants. Body image was not a concern for most, but they worry about dietary restrictions after PTG. Lastly, connection to peers having the same experience was important. These findings increase our understanding of the medical management decision-making challenges for EA CDH1 carriers. EAs may take an extended time to decide what option is right for them. Thus, genetic counseling for CDH1 PLPV EA carriers requires long-term support and education.
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Neoplasias Gástricas , Adolescente , Adulto , Antígenos CD , Caderinas/genética , Criança , Gastrectomia , Aconselhamento Genético , Predisposição Genética para Doença , Testes Genéticos , Humanos , Recém-Nascido , Gestão de Riscos , Neoplasias Gástricas/genética , Adulto JovemRESUMO
BACKGROUND: As genomic science moves beyond government-academic collaborations into routine healthcare operations, nursing's holistic philosophy and evidence-based practice approach positions nurses as leaders to advance genomics and precision health care in routine patient care. PURPOSE: To examine the status of and identify gaps for U.S. genomic nursing health care policy and precision health clinical practice implementation. METHODS: We conducted a scoping review and policy priorities analysis to clarify key genomic policy concepts and definitions, and to examine trends and utilization of health care quality benchmarking used in precision health. FINDINGS: Genomic nursing health care policy is an emerging area. Educating and training the nursing workforce to achieve full dissemination and integration of precision health into clinical practice remains an ongoing challenge. Use of health care quality measurement principles and federal benchmarking performance evaluation criteria for precision health implementation are not developed. DISCUSSION: Nine recommendations were formed with calls to action across nursing practice workforce and education, nursing research, and health care policy arenas. CONCLUSIONS: To advance genomic nursing health care policy, it is imperative to develop genomic performance measurement tools for clinicians, purchasers, regulators and policymakers and to adequately prepare the nursing workforce.
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Atenção à Saúde/tendências , Enfermagem Baseada em Evidências/tendências , Genômica/tendências , Política de Saúde/tendências , Enfermagem Holística/tendências , Cuidados de Enfermagem/tendências , Humanos , Estados UnidosRESUMO
INTRODUCTION: Hereditary diffuse gastric cancer (HDGC) is a cancer syndrome associated with variants in E-cadherin (CDH1), diffuse gastric cancer and lobular breast cancer. There is considerable heterogeneity in its clinical manifestations. This study aimed to determine associations between CDH1 germline variant status and clinical phenotypes of HDGC. METHODS: One hundred and fifty-two HDGC families, including six previously unreported families, were identified. CDH1 gene-specific guidelines released by the Clinical Genome Resource (ClinGen) CDH1 Variant Curation Expert Panel were applied for pathogenicity classification of truncating, missense and splice site CDH1 germline variants. We evaluated ORs between location of truncating variants of CDH1 and incidence of colorectal cancer, breast cancer and cancer at young age (gastric cancer at <40 or breast cancer <50 years of age). RESULTS: Frequency of truncating germline CDH1 variants varied across functional domains of the E-cadherin receptor gene and was highest in linker (0.05785 counts/base pair; p=0.0111) and PRE regions (0.10000; p=0.0059). Families with truncating CDH1 germline variants located in the PRE-PRO region were six times more likely to have family members affected by colorectal cancer (OR 6.20, 95% CI 1.79 to 21.48; p=0.004) compared with germline variants in other regions. Variants in the intracellular E-cadherin region were protective for cancer at young age (OR 0.2, 95% CI 0.06 to 0.64; p=0.0071) and in the linker regions for breast cancer (OR 0.35, 95% CI 0.12 to 0.99; p=0.0493). Different CDH1 genotypes were associated with different intracellular signalling activation levels including different p-ERK, p-mTOR and ß-catenin levels in early submucosal T1a lesions of HDGC families with different CDH1 variants. CONCLUSION: Type and location of CDH1 germline variants may help to identify families at increased risk for concomitant cancers that might benefit from individualised surveillance and intervention strategies.
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Antígenos CD/genética , Caderinas/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Fenótipo , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/genética , Alelos , Processamento Alternativo , Antígenos CD/química , Antígenos CD/metabolismo , Caderinas/química , Caderinas/metabolismo , Éxons , Família , Humanos , Imuno-Histoquímica , Mutação de Sentido Incorreto , Razão de Chances , Linhagem , Transdução de Sinais , Neoplasias Gástricas/metabolismoRESUMO
PURPOSE: To establish a website to advance nursing research and education involving omics technologies and methodologies through facilitating collaborations, use of existing data and samples, mentoring, and access to training opportunities. METHODS: The Omics Nursing Science & Education Network (ONSEN) website was established following identification of gaps in omics nursing infrastructure and resources that could be addressed via a concerted, collaborative effort. ONSEN content was created using input from a workgroup of experts in genomics and other omics, education, practice, and nursing research. Alpha testing was conducted with workgroup members, followed by website refinements and enhancements, and subsequent beta testing by potential end users. ONSEN was launched in August 2018. FINDINGS: ONSEN has three main sections. The Education and Training section provides information on mentoring and pre- or postdoctoral opportunities in addition to a knowledge matrix to advance education and skills in genomic nursing science. The Research Collaborations section promotes awareness of ongoing omics nursing research in order to foster collaborations and sharing of samples or data among investigators with programs in omics nursing research or an interest in developing such programs. The Common Data Elements (CDE) section provides information on the benefits of incorporating CDEs into nursing science as well as links to National Institutes of Health resources to facilitate use of CDEs. CONCLUSIONS: ONSEN provides opportunities for nurse scientists and trainees to leverage samples and datasets, locate mentors and pre- or postdoctoral positions, further the use of CDEs, and enhance education and skills for integrating omics into nursing science. CLINICAL RELEVANCE: Advancing omics nursing science via ONSEN resources will accelerate the elucidation of the molecular underpinnings of disease and associated symptoms as well as inform the development of rapidly translatable, personalized intervention strategies, grounded in biological mechanisms, for improved health outcomes across populations and the lifespan.
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Elementos de Dados Comuns , Educação em Enfermagem/métodos , Mentores , Pesquisa em Enfermagem/métodos , Pesquisa em Enfermagem/organização & administração , Genômica , Humanos , Internet , Desenvolvimento de Programas , Pesquisadores , Estados Unidos , Interface Usuário-ComputadorRESUMO
PURPOSE: The changes needed to accelerate integration of genomics across nursing are complex, with significant challenges faced globally. Common themes lend themselves to a coordinated and collaborative strategic approach to sustained change. We aim to synthesize the outputs of a research program to present a roadmap for nursing leadership to guide integration of genomics across practice. DESIGN: Mixed methods involving a purposive sample of global nursing leaders and nursing organizations in a sustained, highly interactive program. METHODS: Experts in nursing, health care and healthcare services, policy, and leadership were recruited. Online surveys preceded a 3-day residential meeting utilizing participatory methods and techniques to gain consensus on the essential elements of a roadmap to promote genomics integration. FINDINGS: Twenty-three leaders representing 19 countries and seven organizations participated overall. Data on the scope and status of nursing, genomics health care, and resources have been synthesized. Participants identified 117 facilitators to genomics integration across diverse sources. Barriers and priorities identified were mapped to the constructs of the Consolidated Framework for Implementation Research. The roadmap is underpinned by a maturity matrix created by participants to guide and benchmark progress in genomics integration. CONCLUSIONS: Nurse leaders seeking to accelerate change can access practical guidance with the roadmap, underpinned by support through the Global Genomics Nursing Alliance and its strategic priorities. CLINICAL RELEVANCE: Genomics is shaping the future of healthcare, but change is needed for integration across nursing. This practical roadmap, adaptable to local health systems and clinical and educational contexts, is relevant to nurse leaders aiming to accelerate change.
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Genômica/organização & administração , Enfermagem/organização & administração , Humanos , Internacionalidade , LiderançaRESUMO
PURPOSE: Nurse leaders driving strategic integration of genomics across nursing need tools and resources to evaluate their environment, guide strategies to address deficits, and benchmark progress. We describe the development and pilot testing of a self-assessment maturity matrix (MM) that enables users to benchmark the current state of nursing genomic competency and integration for their country or nursing group; guides the development of a strategic course for improvement and implementation; and assesses change over time. DESIGN: Mixed-methods participatory research and self-assessment. METHODS: During a 3-day workshop involving nursing experts in health care and genomics, a genomic integration MM grid was built by consensus using iterative participatory methods. Data were analyzed using descriptive techniques. This work built on an online survey involving the same participants to identify the critical elements needed for "effective nursing which promotes health outcomes globally through genomics." FINDINGS: Experts from 19 countries across six continents and seven organizations participated in item development. The Assessment of Strategic Integration of Genomics across Nursing (ASIGN) MM incorporates 55 outcome-focused items serving as subscales for six critical success factors (CSFs): education and workforce; effective nursing practice; infrastructure and resources; collaboration and communication; public/patient involvement; policy and leadership. Users select their current circumstances for each item against a 5-point ordinal scale (precontemplation to leading). Nurses representing 17 countries undertook matrix pilot testing. Results demonstrate variation across CSFs, with many countries at the earliest stages of implementation. CONCLUSIONS: The MM has the potential to guide the strategic integration of genomics across nursing and enables additional assessments within and between countries to be made. CLINICAL RELEVANCE: Nurse leadership and direction are essential to accelerate integration of genomics across nursing practice and education. The MM helps nurse leaders to benchmark progress and guide strategic planning to build global genomic nursing capacity.
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Benchmarking/métodos , Atenção à Saúde/organização & administração , Genômica , Política de Saúde , Enfermeiros Administradores/psicologia , Genômica/educação , HumanosRESUMO
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 and found loss of the wild-type allele on 5q in fundic gland polyps from affected individuals. Whole-exome and -genome sequencing failed to find causal mutations but, through Sanger sequencing, we identified point mutations in APC promoter 1B that co-segregated with disease in all six families. The mutations reduced binding of the YY1 transcription factor and impaired activity of the APC promoter 1B in luciferase assays. Analysis of blood and saliva from carriers showed allelic imbalance of APC, suggesting that these mutations lead to decreased allele-specific expression in vivo. Similar mutations in APC promoter 1B occur in rare families with familial adenomatous polyposis (FAP). Promoter 1A is methylated in GAPPS and sporadic FGPs and in normal stomach, which suggests that 1B transcripts are more important than 1A in gastric mucosa. This might explain why all known GAPPS-affected families carry promoter 1B point mutations but only rare FAP-affected families carry similar mutations, the colonic cells usually being protected by the expression of the 1A isoform. Gastric polyposis and cancer have been previously described in some FAP-affected individuals with large deletions around promoter 1B. Our finding that GAPPS is caused by point mutations in the same promoter suggests that families with mutations affecting the promoter 1B are at risk of gastric adenocarcinoma, regardless of whether or not colorectal polyps are present.
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Adenocarcinoma/genética , Proteína da Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/genética , Pólipos Adenomatosos/genética , Éxons/genética , Mutação Puntual/genética , Neoplasias Gástricas/genética , Desequilíbrio Alélico/genética , Variações do Número de Cópias de DNA/genética , Exoma/genética , Feminino , Mucosa Gástrica/metabolismo , Ligação Genética/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Perda de Heterozigosidade , Masculino , Linhagem , Regiões Promotoras Genéticas/genéticaRESUMO
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.
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Tomada de Decisão Clínica , Disparidades em Assistência à Saúde , Profissionais de Enfermagem/ética , Médicos/ética , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Inquéritos e QuestionáriosRESUMO
PURPOSE: To establish the knowledge needed to integrate the multiple branches of omics into nursing research to accelerate achieving the research recommendations of the Genomic Nursing Science Blueprint. METHODS: The creation of the Genomic Knowledge Matrix occurred in three phases. In phase 1, the Omics Nursing Science and Education Network (ONSEN) Education Workgroup completed an evidence, bioinformatics, and technology review to inform the components of the Matrix. The ONSEN Advisory Panel then reviewed and integrated revisions. Phase 3 solicited targeted public comment focused on education and research experts, and applicable revisions were made. FINDINGS: The Genomic Knowledge Matrix establishes the following content areas: cellular and molecular biology, system physiology, microbiology, and translational bioinformatics as the minimum required preparation for nurse scientists to understand omics and to integrate this knowledge into research. The Matrix also establishes levels of understanding needed to function based on the role of the nurse scientist. CONCLUSIONS: The Genomic Knowledge Matrix addresses knowledge important for nurse scientists to integrate genomics into their research. Building on prior recommendations and existing genomic competencies, the Matrix was designed to present key knowledge elements critical to understand omics that underpin health and disease. Knowledge depth varies based on the research role. CLINICAL RELEVANCE: The Genomic Knowledge Matrix provides the vital guidance for training nurse scientists in the integration of genomics. The flexibility of the Matrix also provides guidance to inform fundamental genomic content needed in core science content in undergraduate and graduate level nursing curricula.
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Competência Clínica/normas , Educação em Enfermagem/organização & administração , Genômica/educação , Biologia Computacional , Currículo , Educação em Enfermagem/normas , Humanos , Comunicação Interdisciplinar , National Cancer Institute (U.S.) , National Human Genome Research Institute (U.S.) , National Institute of Nursing Research (U.S.) , Enfermeiras e Enfermeiros , Pesquisa em Educação em Enfermagem , Estados UnidosRESUMO
AIM: To identify issues and challenges of genomics education in Hong Kong, Taiwan and Mainland China. BACKGROUND: The use of genetics/genomics in health care, such as genetic testing, pharmacogenomics and tumour profiling in the context of cancer, is increasing. The rapid application of genetics/genomics in clinical practice requires healthcare providers to be competent to practise genetics-related patient care. SOURCES OF EVIDENCE: We reviewed current practices in genomics education in nursing in Hong Kong, Taiwan and Mainland China, including the opportunities for nurses to advance their knowledge and recommendations to incorporate genomics education in the nursing curriculum in these regions. FINDINGS: While many citizens and health professionals recognize the importance of new and exciting research areas of genomics/genetics, there are still many gaps in the translation of genetic/genomic medicine into clinical practice. There is also a similar lack of genetics professionals in China. CONCLUSION: Hong Kong, Taiwan and Mainland China face challenges in promoting genetic education in nursing. A strategic approach in a coordinated effort ineffectively translating genomic knowledge into healthcare practice should be established in these three regions. IMPLICATIONS FOR NURSING AND POLICY: Nursing educators in Hong Kong, Taiwan and Mainland China should link with the international nursing community (e.g. Global Genomics Nursing Alliance) and form closer networks to improve education in the area of genetics and genomics. From a policy level, genomics education is suggested to be incorporated in nursing curriculum to enhance nurses' competency in incorporating genetics/genomics service into patient care.
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Educação em Enfermagem , Genômica/educação , China , Currículo , Hong Kong , Humanos , TaiwanRESUMO
PURPOSE: Nurses have a pivotal role in bringing the benefits of genomics and precision medicine to everyday health care, but a concerted global effort is needed to transform nursing policy and practice to address widely acknowledged deficits in nurses' genomic literacy. The purpose was to conduct a global country and organization review of nursing engagement with genomics, informing a landscape analysis to assess readiness for integration of genomics into nursing. DESIGN: Global nursing leaders and nursing organizations were recruited using a purposive sampling strategy to complete an online survey that assessed the scope of genomic integration in practice and education, challenges and barriers, and priorities for action. METHODS: The survey was administered online following an orientation webinar. Given the small numbers of nurse leaders globally, results were analyzed and presented descriptively. FINDINGS: Delegates consisted of 23 nurse leaders from across the world. Genomic services were offered predominantly in specialty centers consisting mostly of newborn screening (15/18) and prenatal screening (11/18). Genomic literacy and infrastructure deficits were identified in both practice and education settings, with only one country reporting a genetic/genomic knowledge and skill requirement to practice as a general nurse. CONCLUSIONS: These data provide insights into the commitment to and capacity for nursing to integrate genomics, revealing common themes and challenges associated with adoption of genomic health services and integration into practice, education, and policy. Such insights offer valuable context and baseline information to guide the activities of a new Global Genomics Nursing Alliance (G2NA). The G2NA will use the landscaping exercise as a springboard to explore how to accelerate the integration of genomics into nursing healthcare. CLINICAL RELEVANCE: Genomics is relevant to all healthcare providers across the healthcare continuum. It provides an underpinning for understanding health, risks for and manifestations of disease, therapeutic decisions, development of new therapies, and responses to interventions. Harnessing the benefits of genomics to improve health and care outcomes and reduce costs is a global nursing challenge.
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Prestação Integrada de Cuidados de Saúde/métodos , Genômica , Enfermagem , Competência Clínica , Educação em Enfermagem , Genômica/educação , Acessibilidade aos Serviços de Saúde/normas , Humanos , Liderança , Enfermeiras e Enfermeiros , Enfermagem/métodos , Pesquisa em EnfermagemRESUMO
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.
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Fenômenos Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Liderança , Adulto , Idoso , Competência Clínica/normas , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Recursos Humanos de Enfermagem/psicologia , Recursos Humanos de Enfermagem/tendências , Medicina de Precisão/métodos , Medicina de Precisão/normas , West VirginiaRESUMO
PURPOSE: Ewing sarcoma is a small round blue cell tumor that is highly malignant and predominantly affects the adolescent and young adult population. It has long been suspected that a genetic predisposition exists for this cancer, but the germ-line genetic underpinnings of this disease have not been well established. METHODS: We performed germline variant analysis of whole-genome or whole-exome sequencing of samples from 175 patients affected by Ewing sarcoma. RESULTS: We discovered pathogenic or likely pathogenic germline mutations in 13.1% of our cohort. Pathogenic mutations were highly enriched for genes involved with DNA damage repair and for genes associated with cancer predisposition syndromes. CONCLUSION: Our findings reported here have important clinical implications for patients and families affected by Ewing sarcoma. Genetic counseling should be considered for patients and families affected by this disease to take advantage of existing risk management strategies. Our study also highlights the importance of germline sequencing for patients enrolled in precision-medicine protocols.Genet Med advance online publication 26 January 2017.
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Reparo do DNA/genética , Mutação em Linhagem Germinativa , Sarcoma de Ewing/genética , Adolescente , Adulto , Criança , Estudos de Coortes , Humanos , Masculino , Sequenciamento Completo do Genoma , Adulto JovemRESUMO
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.
Assuntos
Tomada de Decisão Clínica , Enfermeiras e Enfermeiros/psicologia , Padrões de Prática em Enfermagem/estatística & dados numéricos , Grupos Raciais/estatística & dados numéricos , Adulto , Estudos Transversais , Pesquisas sobre Atenção à Saúde , Disparidades em Assistência à Saúde , Humanos , Pessoa de Meia-Idade , Enfermeiras e Enfermeiros/estatística & dados numéricos , Pesquisa em Avaliação de Enfermagem , Estados UnidosRESUMO
PURPOSE: With the accelerated implementation of genomic medicine, health-care providers will depend heavily on professional guidelines and recommendations. Because genomics affects many diseases across the life span, no single professional group covers the entirety of this rapidly developing field. METHODS: To pursue a discussion of the minimal elements needed to develop evidence-based guidelines in genomics, the Centers for Disease Control and Prevention and the National Cancer Institute jointly held a workshop to engage representatives from 35 organizations with interest in genomics (13 of which make recommendations). The workshop explored methods used in evidence synthesis and guideline development and initiated a dialogue to compare these methods and to assess whether they are consistent with the Institute of Medicine report "Clinical Practice Guidelines We Can Trust." RESULTS: The participating organizations that develop guidelines or recommendations all had policies to manage guideline development and group membership, and processes to address conflicts of interests. However, there was wide variation in the reliance on external reviews, regular updating of recommendations, and use of systematic reviews to assess the strength of scientific evidence. CONCLUSION: Ongoing efforts are required to establish criteria for guideline development in genomic medicine as proposed by the Institute of Medicine.