Update to the essential genomic nursing competencies and outcome indicators.

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.

Current State of Genomics in Nursing: A Scoping Review of Healthcare Provider Oriented (Clinical and Educational) Outcomes (2012-2022).

In the 20 years since the initial sequencing of the human genome, genomics has become increasingly relevant to nursing. We sought to chart the current state of genomics in nursing by conducting a systematic scoping review of the literature in four databases (2012-2022). The included articles were categorized according to the Cochrane Collaboration outcome domains/sub-domains, and thematic analysis was employed to identify key topical areas to summarize the state of the science. Of 8532 retrieved articles, we identified 232 eligible articles. The articles primarily reported descriptive studies from the United States and other high-income countries (191/232, 82%). More than half (126/232, 54.3%) aligned with the "healthcare provider oriented outcomes" outcome domain. Three times as many articles related to the "knowledge and understanding" sub-domain compared to the "consultation process" subdomain (96 vs. 30). Five key areas of focus were identified, including "nursing practice" (50/126, 40%), "genetic counseling and screening" (29/126, 23%), "specialist nursing" (21/126, 17%), "nurse preparatory education" (17/126, 13%), and "pharmacogenomics" (9/126, 7%). Only 42/126 (33%) articles reported interventional studies. To further integrate genomics into nursing, study findings indicate there is a need to move beyond descriptive work on knowledge and understanding to focus on interventional studies and implementation of genomics into nursing practice.

CONSTRUCT VALIDITY ANALYSIS OF THE GENETICS AND GENOMICS IN NURSING PRACTICE SURVEY: OVERCOMING CHALLENGES IN VARIABLE RESPONSE INSTRUMENTS.

Background and Purpose: We evaluated the construct validity of the Genetics and Genomics Nursing Practice Survey by investigating the factoral structure, while attempting to account for varied response structures of the items. Methods: Exploratory factor analyses provided insights into item loadings. Confirmatory factor analyses and a version of common methods bias analyses evaluated construct validity while considering the instrument's structural limitations. Structural equation models provided information regarding model fit. Results: The 7-factor model fit these data slightly better (AIC ≈ 169,405; RMSEA = .052) than did the 5-factor model (AIC ≈ 183,599; RMSEA = .063). Neither the CFI or TLI met commonly-accepted thresholds for adequate model fits. Conclusion: The response format of the GGNPS created challenges in evaluating the instrument for construct validity. Nonetheless, these results support the theory-based construct validity of the GGNPS.

A Maturity Matrix for Nurse Leaders to Facilitate and Benchmark Progress in Genomic Healthcare Policy, Infrastructure, Education, and Delivery.

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.

A Roadmap for Global Acceleration of Genomics Integration Across Nursing.

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.

Establishing the Omics Nursing Science & Education Network.

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.

Validity evaluation of the genetics and genomics in nursing practice survey.

AIM: To psychometrically test the Genetics and Genomics Nursing Practice Survey (GGNPS) for evidence of content, face and construct validity. DESIGN: This study was a secondary data analysis. METHOD: Data collected from the Method for Introducing a New Competency into Nursing Practice (MINC) study were used to evaluate the GGNPS for evidence of construct validity via structural equation modelling and confirmatory factor analysis. Face validity was evaluated via feedback from practicing RNs without specific experience with or knowledge of genetics/genomics. Content validity was evaluated via content expert feedback and assessment of a content validity index. RESULTS: The thresholds for evidence of content and face validity were met. However, we found less evidence for construct validity of the GGNPS; an exploratory factor analysis, conducted to gain additional insight into the theorized latent constructs, determined that the variables were more interrelated that previously predicted.

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.

Establishing the Genomic Knowledge Matrix for Nursing Science.

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.

Increasing nursing capacity in genomics: Overview of existing global genomics resources.

BACKGROUND: Global genomic literacy of all health professions, including nurses, remains low despite an inundation of genomic information with established clinical and analytic validity and clinical utility. Genomic literacy and competency deficits contribute to lost opportunities to take advantage of the benefits that genomic information provides to improve health outcomes, reduce healthcare costs, and increase patient quality and safety. Nurses are essential to the integration of genomics into healthcare. The greatest challenges to realizing their potential in successful integration include education and awareness. Identification of resources, their focus, whether they targeted at nursing, and how to access them, form the foundation for a global genomic resource initiative led by the Global Genomics Nursing Alliance. OBJECTIVES: The aim was to identify existing global genomic resources and competencies, identifying the source, type and accessibility. DESIGN: Cross sectional online descriptive survey to ascertain existing genomic resources. SETTINGS: Limited to eighteen countries and seven organizations represented by delegates attending the inaugural meeting in 2017 of the Global Genomics Nursing Alliance. PARTICIPANTS: A purposive sample of global nursing leaders and representatives of national and international nursing organizations. METHODS: The primary method was by online survey administered following an orientation webinar. Given the small numbers of nurse leaders in genomics within our sample (and indeed within the world), results were analyzed and presented descriptively. Those identifying resources provided further detailed resource information. Additional data were collected during a face-to-face meeting using an electronic audience-response system. RESULTS: Of the twenty-three global delegates responding, 9 identified existing genomic resources that could be used for academic or continuing genomics education. Three countries have competence frameworks to guide learning and 5 countries have national organizations for genetics nurses. CONCLUSIONS: The genomic resources that already exist are not readily accessible or discoverable to the international nursing community and as such are underutilized.

The Global Landscape of Nursing and Genomics.

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.

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.

Genetic and Genomic Competencies for Nursing Informatics Internationally.

The majority of health professionals now have genetic and genomic competencies and some are measured by certification standards. Nursing has a proud history of defining roles for nursing in informatics and genetics. In addition, the nursing professional organization, the American Nurses Association, has a Certification Center that has successfully achieved ISO 9001:2008 certification in the design, development, and delivery of global credentialing services which encompasses certification of advanced practice nurses in genetics. ISO 9001:2008 certification is the firmly established global standard for assuring stakeholders of an organization's ability to satisfy quality-related requirements. However, despite the addition of genomics into the Informatics Scope and Standards of Practice, there is a need to define the integration of the genetic, genomics and other omics competencies into the informatics domain, especially the Electronic Health Record. Currently, there are also international and interprofessional activities and organizations that have established or are identifying competencies in genetics and genomics. There remains a need for more international collaborations to build upon the current resources and strategies implemented by several countries, to learn from each other, support each other, and to collaborate to answer questions and reduce duplication of efforts.

Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

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.

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

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.

Test-Retest Reliability of the Genetics and Genomics in Nursing Practice Survey Instrument.

BACKGROUND AND PURPOSE: Assessment of nursing genomic competency is critical given increasing genomic applications to health care. The study aims were to determine the test-retest reliability of the Genetics and Genomics in Nursing Practice Survey (GGNPS), which measures this competency, and to revise the survey accordingly. METHODS: Registered nurses (n = 232) working at 2 Magnet-designated hospitals participating in a multiinstitutional genomic competency study completed the GGNPS. Cohen's kappa and weighted kappa were used to measure the agreement of item responses between Time 1 and Time 2. Survey items were revised based on the results. RESULTS: Mean agreement for the instrument was 0.407 (range = 0.150-1.000). Moderate agreement or higher was achieved in 39% of the items. CONCLUSIONS: GGNPS test-retest reliability was not optimal, and the instrument was refined based on the study findings. Further testing of the revised instrument is planned to assess the instrument performance.

Hereditary cancer syndromes as model systems for chemopreventive agent development.

Research in chemoprevention has undergone a shift in emphasis for pragmatic reasons from large, phase III randomized studies to earlier phase studies focused on safety, mechanisms, and utilization of surrogate endpoints such as biomarkers instead of cancer incidence. This transition permits trials to be conducted in smaller populations and at substantially reduced costs while still yielding valuable information. This article will summarize some of the current chemoprevention challenges and the justification for the use of animal models to facilitate identification and testing of chemopreventive agents as illustrated though four inherited cancer syndromes. Preclinical models of inherited cancer syndromes serve as prototypical systems in which chemopreventive agents can be developed for ultimate application to both the sporadic and inherited cancer settings.

MultiDimensional ClinOmics for Precision Therapy of Children and Adolescent Young Adults with Relapsed and Refractory Cancer: A Report from the Center for Cancer Research.

PURPOSE: We undertook a multidimensional clinical genomics study of children and adolescent young adults with relapsed and refractory cancers to determine the feasibility of genome-guided precision therapy. EXPERIMENTAL DESIGN: Patients with non-central nervous system solid tumors underwent a combination of whole exome sequencing (WES), whole transcriptome sequencing (WTS), and high-density single-nucleotide polymorphism array analysis of the tumor, with WES of matched germline DNA. Clinically actionable alterations were identified as a reportable germline mutation, a diagnosis change, or a somatic event (including a single nucleotide variant, an indel, an amplification, a deletion, or a fusion gene), which could be targeted with drugs in existing clinical trials or with FDA-approved drugs. RESULTS: Fifty-nine patients in 20 diagnostic categories were enrolled from 2010 to 2014. Ages ranged from 7 months to 25 years old. Seventy-three percent of the patients had prior chemotherapy, and the tumors from these patients with relapsed or refractory cancers had a higher mutational burden than that reported in the literature. Thirty patients (51% of total) had clinically actionable mutations, of which 24 (41%) had a mutation that was currently targetable in a clinical trial setting, 4 patients (7%) had a change in diagnosis, and 7 patients (12%) had a reportable germline mutation. CONCLUSIONS: We found a remarkably high number of clinically actionable mutations in 51% of the patients, and 12% with significant germline mutations. We demonstrated the clinical feasibility of next-generation sequencing in a diverse population of relapsed and refractory pediatric solid tumors. Clin Cancer Res; 22(15); 3810-20. ©2016 AACR.