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.

Enhancing inclusion of diverse populations in genomics: A competence framework.

Genomic knowledge and technology have developed rapidly over the last decade and increased our capabilities to diagnose and manage rare diseases. However, current genomic datasets lack ethnic diversity as many genomic studies have focused on participants of white European ancestry. Studies, such as the Deciphering Developmental Disorders study, have been available to participants of any ancestry but have been unsuccessful in recruiting diverse populations. The inclusion of diverse populations in exome and genome sequencing is important to ensure that clinical benefits of genomics advances are equally shared among all populations and to advance scientific knowledge. Our clinical and research experience with the British Pakistani population (the largest ethnic minority in Yorkshire and Humber, accounting for 4.3% of the population) has fostered the development of an innovative cultural competence framework to enhance the inclusion of diverse populations in clinical genomic research and service provision. The application of this framework has the potential to guide healthcare professionals to develop a wide range of competences, so they are ready to embrace genomic advances in order to improve health outcomes for all patients. This practice model will inform precision medicine and improve access of diverse populations to genomic studies. Although based upon work with the Pakistani population in the UK, it is anticipated that the model would be broadly applicable to all underrepresented populations across the world.

The first competency based framework in genetics/genomics specifically for midwifery education and practice.

This paper details a competency framework to help address the need for structured guidance around genetic and genomic education and training for midwives. A one-day expert panel consensus meeting was convened to review and revise a previously published joint framework for nurses, midwives and health visitors. Fifteen midwives from practice, management, education and policy and three genetic counsellors (two with midwifery backgrounds) attended. An in-depth knowledge of genetics/genomics was not a requirement. Personal narratives covering a range of experiences across the pre- and post-natal periods were used to stimulate discussion and debate. Identified themes were mapped to the original framework to identify gaps and differences. Inclusion of additional themes into the new framework was voted upon. All original competencies were found to be valid but required amendment in order to focus specifically on the role of the midwife and the needs of the mother, child and wider family. Revisions have resulted in a framework that is more directive and which addresses the time-critical nature of information-giving, decision-making, testing and referral that are crucial components of midwifery practice. Learning outcomes and practice indicators offer educators and trainers a means of developing student/staff knowledge and skills over time and with increasing experience.

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.

A strategy for implementing genomics into nursing practice informed by three behaviour change theories.

Genomics is an ever increasing aspect of nursing practice, with focus being directed towards improving health. The authors present an implementation strategy for the incorporation of genomics into nursing practice within the UK, based on three behaviour change theories and the identification of individuals who are likely to provide support for change. Individuals identified as Opinion Leaders and Adopters of genomics illustrate how changes in behaviour might occur among the nursing profession. The core philosophy of the strategy is that genomic nurse Adopters and Opinion Leaders who have direct interaction with their peers in practice will be best placed to highlight the importance of genomics within the nursing role. The strategy discussed in this paper provides scope for continued nursing education and development of genomics within nursing practice on a larger scale. The recommendations might be of particular relevance for senior staff and management.

Identifying the characteristics of nurse opinion leaders to aid the integration of genetics in nursing practice.

AIM: To identify the characteristics of nurses opinion leaders in the context of genetics in health care and consider the findings for the integration of genetics in nursing practice. BACKGROUND: Nurses need a basic understanding of the role genetics plays in their practice and about how best to support patients using genetic knowledge. Opinion leaders have been used previously to incorporate change initiatives and increase educational application. Identifying the characteristics of nurse opinion leaders may aid the engagement and continued integration of genetics into nursing practice. DESIGN: A primarily quantitative approach over two phases, using online surveys conducted during 2011. METHOD: This article focuses on Phase 2 of a wider study. Oncology and primary care nurses were surveyed to identify the characteristics and demographic indicators of nurse opinion leaders. Tests for data normality followed by the suitable test for group comparison was applied with significance level set at <0·05. RESULTS: Nineteen respondents (n = 19/88; 21·6%) were categorized as opinion leaders and two subgroups were identified: Genetic Opinion Leaders and Opinion Leaders with an Interest in Genetics. Seven characteristics were deemed statistically significant (Mann-Whitney, Chi-Square, t-test) in identifying nurse opinion leaders, including being open to experience and having a perceived level of influence over others. CONCLUSION: The identified characteristics could be used to enhance the integration of genetics into nursing practice through the use of opinion leaders. Further thought needs to be given to the refinement of the identified characteristics and to the use of such a unique group of nurses.

An iterative consensus-building approach to revising a genetics/genomics competency framework for nurse education in the UK.

AIM: To report a review of a genetics education framework using a consensus approach to agree on a contemporary and comprehensive revised framework. BACKGROUND: Advances in genomic health care have been significant since the first genetics education framework for nurses was developed in 2003. These, coupled with developments in policy and international efforts to promote nursing competence in genetics, indicated that review was timely. DESIGN: A structured, iterative, primarily qualitative approach, based on a nominal group technique. METHOD: A meeting convened in 2010 involved stakeholders in UK nursing education, practice and management, including patient representatives (n = 30). A consensus approach was used to solicit participants' views on the individual/family needs identified from real-life stories of people affected by genetic conditions and the nurses' knowledge, skills and attitudes needed to meet those needs. Five groups considered the stories in iterative rounds, reviewing comments from previous groups. Omissions and deficiencies were identified by mapping resulting themes to the original framework. Anonymous voting captured views. Educators at a second meeting developed learning outcomes for the final framework. FINDINGS: Deficiencies in relation to Advocacy, Information management and Ongoing care were identified. All competencies of the original framework were revised, adding an eighth competency to make explicit the need for ongoing care of the individual/family. CONCLUSION: Modifications to the framework reflect individual/family needs and are relevant to the nursing role. The approach promoted engagement in a complex issue and provides a framework to guide nurse education in genetics/genomics; however, nursing leadership is crucial to successful implementation.

Evaluating the role of Cardiac Genetics Nurses in inherited cardiac conditions services using a Maturity Matrix.

BACKGROUND: Cardiovascular disease is a leading cause of death worldwide and genetic risk factors play a role in nearly all such cases. In the UK, health service capacity to meet either current or future estimated needs of people affected by inherited cardiac conditions (ICCs) is inadequate. In 2008 the British Heart Foundation funded nine three-year Cardiac Genetics Nurse (CGN) posts across England and Wales to enhance ICC services. The CGNs were experienced cardiac nurses who had additional training in genetics and acted to coordinate cardiac and genetics service activities. AIM: To create and apply a framework against which progress in ICC service improvement could be measured over time following the CGN appointments. METHODS: A performance grid (Maturity Matrix, MM) articulating standards in five domains against stages of ICC service development was created by stakeholders through a consensus approach. The MM was used to guide staged self-assessments by the CGNs between 2009 and 2011. A six-point scale was used to locate progress from 'emerging' to 'established', represented graphically by spider diagrams. RESULTS: Progress in all domains was significant for new, emerging and established services. It was most notable for effective utilisation of care pathways and efficient running of clinics. Commitment to family-centred care was evident. CONCLUSION: The ICC-MM provided a comprehensive framework for assessing ICC services and has merit in providing guidance on development. CGNs can help integrate care across specialisms, facilitating the development of effective and sustainable ICC services at new, developing, and more established ICC service locations.

Using the Diffusion of Innovations theory to understand the uptake of genetics in nursing practice: identifying the characteristics of genetic nurse adopters.

AIM: To identify the characteristics of nurses who are using genetics in practice and consider the implications of the findings for optimizing its wider uptake. BACKGROUND: Nurses are crucial in realizing the benefits from advances in genetic and genomic health care. Although many recognize genetics as an important component of disease, most feel unprepared to engage with it in practice. The Diffusion of Innovation theory provides a useful framework to describe different levels of engagement. Identifying the characteristics of nurses who have engaged with genetics (adopters) may provide insights of relevance to promoting wider adoption. DESIGN: A primarily quantitative approach over two phases, using online surveys conducted during 2011. METHOD: In phase 1, consensus (>75%) was sought from experts in genetics and nursing on four potential Indicators of Genetic Adoption could identify nurses who have adopted genetics. In phase 2, oncology and primary care nurses were surveyed to identify the characteristics and demographic indicators of genetic nurse adopters. RESULTS: A consensus was achieved to include all Indicators of Genetic Adoption (phase 1). In phase 2, 27·3% of respondents (n = 24/88) were categorized as being adopters. Eighteen characteristics were determined to be statistically significant (Mann-Whitney) in defining an adopter and included being open to experience and being more knowledgeable of and confident in using genetics. CONCLUSION: Nurses can be categorized in terms of their engagement with genetics through several distinguishing characteristics. Further research is needed to test the generalizability of the findings to a larger sample and other areas of nursing practice.

Providing nursing care and support to individuals and families with genetic/genomic healthcare needs.

This is the final article in a series looking at how nurses can develop confidence and competence in genetics and genomics health care. This article focuses on the role of the nurse in providing ongoing care and support for families affected by genetics and/or genomics issues.

Introduction to genetics and genomics:a revised framework for nurses.

The genetics education framework for nurses first published in 2003 has been revised to reflect advances in genomic research and technology and its implications for practice. The framework now comprises eight competency statements. Each of these competencies will be discussed in a series of articles published in subsequent issues of Nursing Standard to update nurses on this dynamic field of health care.

Current and emerging technology approaches in genomics.

PURPOSE: To introduce current and emerging approaches that are being utilized in the field of genomics so the reader can conceptually evaluate the literature and appreciate how these approaches are advancing our understanding of health-related issues. ORGANIZING CONSTRUCT: Each approach is described and includes information related to how it is advancing research, its potential clinical utility, exemplars of current uses, challenges related to technologies used for these approaches, and when appropriate information related to understanding the evidence base for clinical utilization of each approach is provided. Web-based resources are included for the reader who would like more in-depth information and to provide opportunity to stay up to date with these approaches and their utility. CONCLUSIONS: The chosen approaches-genome sequencing, genome-wide association studies, epigenomics, and gene expression-are extremely valuable approaches for collecting research data to help us better understand the pathophysiology of a variety of health-related conditions, but they are also gaining in utility for clinical assessment and testing purposes. CLINICAL RELEVANCE: Our increased understanding of the molecular underpinnings of disease will assist with better development of screening tests, diagnostic tests, tests that allow us to prognosticate, tests that allow for individualized treatments, and tests to facilitate post-treatment surveillance.

Storytellers as partners in developing a genetics education resource for health professionals.

Advances in genetics are bringing unprecedented opportunities for understanding health and disease, developing new therapies and changes in healthcare practice. Many nurses and midwives lack competence and confidence in integrating genetics into professional practice. One approach to enhance understanding of genetics is to simulate clinical exposure through storytelling. Stories are acknowledged as a powerful learning tool, being understandable and memorable, stimulating critical thinking, and linking theory to practice. Telling Stories, Understanding Real Life Genetics is a freely accessible website that sets people's stories within an education framework. The links between the stories and professional practice are made explicit and additional features support learning and teaching. Care of the storytellers within an ethical framework is of paramount importance. Storytellers are viewed as partners in the project. The challenges encountered include preserving the authentic voice and dignity of the storyteller. Project team members have also experienced 'professional shame' when negative experiences have been recounted, and the stories have had an impact on the team. The experience of working with storytellers has been positive. The storytellers want to be heard so that others will benefit from their stories. They serve as a reminder of why this work is important.

Strategies to prepare faculty to integrate genomics into nursing education programs.

PURPOSE: Faculty knowledge of genomics, learner competencies, and program requirements for nursing education are described to assist educators in introducing genomic information into nursing undergraduate, graduate, postgraduate, and continuing education programs regardless of geographic location. Selected programs in the United States and the United Kingdom are described to illustrate successful approaches used by nursing faculty to enhance their genomic knowledge in order to increase application of genetic and genomic content within nursing education curricula. ORGANIZING CONSTRUCT: Nursing education guidelines and nursing competencies provide benchmarks for educators in planning genetic and genomic curriculum content and expected learner outcomes. METHODS: Elements within competencies from the United States and the United Kingdom are reviewed to provide the framework for faculty knowledge. Strategies to address development of faculty knowledge and expertise are suggested. Continuing education faculty development programs and strategies to develop doctorally prepared nurse scientists who will educate future students in the profession are described. CONCLUSIONS: Multiple faculty who are prepared to implement education on genetic and genomic topics are needed at all levels of nursing education. Faculty networking and application of genomic principles to nursing are key elements for sustaining nursing education to produce a nursing workforce that can apply essential genomic knowledge. CLINICAL RELEVANCE: There is an urgent need to offer genomics in accessible and effective education for nursing practice to optimize health outcomes regardless of geographic location.

Genetics-genomics competencies and nursing regulation.

PURPOSE: The aim of this article is to explore the interaction between the integration of genetics-genomics competencies into nursing curricula and regulatory standards. By taking a global perspective of activity in this field, we aim to develop a framework that can inform strategic planning in relation to international genetics-genomics and nursing education. METHODS: We focus our exploration around a small-scale international survey on the progress, achievements, and critical success factors of 10 countries in relation to the integration of genetics-genomics into nursing education, with exemplars from three of those countries. FINDINGS: Analysis of the data generated 10 themes, each with several subthemes that play a critical role in the development of genetics-genomics in nursing education and practice. The themes were organized into three overarching themes: nursing in genetics, genetics in nursing, and recognition and support. Genetics-genomics competence is not fully integrated into nursing education at an appropriate level in any country, nor was it reflected robustly in current standards for registration and licensure. CONCLUSION: Strong leadership from the specialist genetics community plays a critical role in defining genetics-genomics competence but the engagement of nursing professionals at senior levels in both government and regulatory institutions is essential if nurses are to be active participants in the innovations offered by genomic healthcare. CLINICAL RELEVANCE: Safe and effective nursing practice must incorporate the needs of those with, at risk for, or susceptible to genetic-genomic conditions, as well as those who might benefit from the application of genomic technologies in the diagnosis and management of common conditions such as cancer and heart disease. The scope of such practice can be articulated though competence statements. Professional regulation defines the standard of competence that practicing nurses should demonstrate at initial registration and licensure.

Understanding the role of genetics and genomics in health 1: background.

International research efforts are resulting in a knowledge revolution which is constantly improving our understanding of the role of genetics and genomics in health and ill health. This first article in a two part series outlines the of this research and discusses its implications for healthcare.

Evaluation of empathy measurement tools in nursing: systematic review.

AIM: This paper is a report of a systematic review conducted to analyse, evaluate and synthesize the rigour of measures used in nursing research to assess empathy, in order to identify a 'gold standard' for application in future studies. BACKGROUND: Empathy is considered essential to the provision of quality care. We identified 20 different empathy measures used in nursing research. There are inconsistencies between tools, indicating both the inherent complexity of measuring empathy and the need to evaluate the rigour of the measures themselves. DATA SOURCES: An extensive search was conducted for the period 1987 and 2007 using the Medline, CINAHL and PsycINFO databases and the keywords 'empathy', 'tool', 'scale', 'measure', 'nurse' and 'nursing'. Twenty-nine studies were identified as relevant, in which 20 different empathy measurement tools were used. Twelve tools met the inclusion criteria for this review. METHOD: Twelve measures were critically reviewed and analysed. A 7-criterion framework was developed to appraise the rigour of the empathy measures, with a score range of 0-14 for each measure. RESULTS: Quality scores obtained were low (2-8 of 14). Validity and reliability of data were commonly reported, but responsiveness to change was tested in only three measures. None of the measures were psychometrically robust or covered all the domains of empathy. User involvement was limited and only five were developed in nursing settings. CONCLUSION: Most measures have undergone rigorous development and psychometric testing, although none is both psychometrically and conceptually satisfactory. Empathy measures need to cover all relevant domains reflecting users' own perspectives and be tested with appropriate populations in relevant care settings.

'Over-the-counter' genetic testing: what does it really mean for primary care?

The publication of More Genes Direct by the Human Genetics Commission is a timely reminder of the potential impact that 'over-the-counter' genetic testing (that is, a direct genetic test without the need for a medical referral) may have on the NHS. This article considers the relevance of current genetic research on complex common diseases and how this might translate into risk estimates for developing conditions such as dementia, cancer, and cardiovascular disease. The implications for primary care include the need to understand the current limitations of genetic testing and its commercial application over the counter, and the importance of continuing to make risk assessments using family history. The authors recommend caution in the premature introduction of over-the-counter testing without a sound evidence base.