The Global Landscape of Nursing and Genomics Calzone, Kathleen A.; Kirk, Maggie; Tonkin, Emma ...
Journal of nursing scholarship,
20/May , Letnik:
50, Številka:
3
Journal Article
Recenzirano
Odprti dostop
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.
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.
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.
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.
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.
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.
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.
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.
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.
The aim was to identify existing global genomic resources and competencies, identifying the source, type and accessibility.
Cross sectional online descriptive survey to ascertain existing genomic resources.
Limited to eighteen countries and seven organizations represented by delegates attending the inaugural meeting in 2017 of the Global Genomics Nursing Alliance.
A purposive sample of global nursing leaders and representatives of national and international nursing organizations.
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.
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.
The genomic resources that already exist are not readily accessible or discoverable to the international nursing community and as such are underutilized.
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.
Ductal carcinoma in situ (DCIS) is a precursor lesion of invasive ductal carcinoma (IDC) of the breast. To understand the dynamics of genomic alterations in this progression, we used four multicolor ...fluorescence in situ hybridization probe panels consisting of the oncogenes COX2 , MYC , HER2 , CCND1, and ZNF217 and the tumor suppressor genes DBC2 , CDH1, and TP53 to visualize copy number changes in 13 cases of synchronous DCIS and IDC based on single-cell analyses. The DCIS had a lower degree of chromosomal instability than the IDC. Despite enormous intercellular heterogeneity in DCIS and IDC, we observed signal patterns consistent with a nonrandom distribution of genomic imbalances. CDH1 was most commonly lost, and gain of MYC emerged during progression from DCIS to IDC. Four of 13 DCISs showed identical clonal imbalances in the IDCs. Six cases revealed a switch, and in four of those, the IDC had acquired a gain of MYC . In one case, the major clone in the IDC was one of several clones in the DCIS, and in another case, the major clone in the DCIS became one of the two major clones in the IDC. Despite considerable chromosomal instability, in most cases the evolution from DCIS to IDC is determined by recurrent patterns of genomic imbalances, consistent with a biological continuum.
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.
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.
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.
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.
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.
We performed germline variant analysis of whole-genome or whole-exome sequencing of samples from 175 patients affected by Ewing sarcoma.
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.
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.
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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