Integrating genomics into Canadian oncology nursing policy: Insights from a comparative policy analysis.

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.

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).

PURPOSE: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development, delivery, and evaluation of genomics education interventions. METHODS: Draft standards were derived from literature (25 items from 21 publications). Thirty-six international experts were purposively recruited for three rounds of a modified Delphi process to reach consensus on relevance, clarity, comprehensiveness, utility, and design. RESULTS: The final standards include 18 items relating to development and delivery of genomics education interventions, 12 relating to evaluation, and 1 on stakeholder engagement. CONCLUSION: These Reporting Item Standards for Education and its Evaluation in Genomics (RISE2 Genomics) are intended to be widely applicable across settings and health professions. Their use by those involved in reporting genomics education interventions and evaluation, as well as adoption by journals and policy makers as the expected standard, will support greater transparency, consistency, and comprehensiveness of reporting. Consequently, the genomics education evidence base will be more robust, enabling high-quality education and evaluation across diverse settings.

The health implications of distrust in the food system: findings from the dimensions of trust in food systems scale (DOTIFS scale).

BACKGROUND: Consumer trust in food systems is essential for consumers, food industry, policy makers and regulators. Yet no comprehensive tool for measuring consumer trust in food systems exists. Similarly, the impact that trust in the food system has on health-related food behaviours is yet to be empirically examined. The aim of this research was to develop a comprehensive instrument to measure trust in the food system (the Dimensions of Trust in Food Systems Scale (DOTIFS scale) and use it to explore whether trust in the food system impacts consumers' health-related behaviours. METHODS: The DOTIFS scale was developed using sociological theories of trust and pre-existing instruments measuring aspects of trust. It was pilot tested and content validity was assessed with 85 participants. A mixed-methods exploration of the health-related behaviours of 18 conveniently sampled Australian consumers with differing trust scores determined by the DOTIFS scale was then conducted. During March-July 2019 shopping- and home-observations were used to assess participants' food safety practices and exposure to public health fortification programs, while the CSIRO Healthy Diet Score determined their adherence to national dietary guidelines. RESULTS: The DOTIFS scale was found to have high comprehension, ease of use and content validity. Statistical analysis showed scale scores significantly trended as predicted by participants' stated level of trust. Differences were found in the way individuals with more or less trust in the food system comply with national dietary guidelines, are exposed to public health fortification programs, and adhere to recommended food safety practices. CONCLUSIONS: The DOTIFS scale is a comprehensive, sociologically- and empirically- informed assessment of consumer trust in food systems that can be self-administered online to large populations and used to measure changes in consumer trust over time. The differences in health-related behaviours between individuals with varying levels of trust warrant further investigation.

Dietary intake of Aboriginal Australian children aged 6-36 months in a remote community: a cross-sectional study.

BACKGROUND: Scarce literature comprehensively captures the transition to solid foods for children in remote Aboriginal Australian communities, a population expected to be especially vulnerable to nutritional inadequacy for largely socio-economic reasons. This study describes the dietary intake of children aged 6-36 months in a remote Aboriginal community during the years of solids introduction and establishment. Specifically, we aimed to explore milk feeding practices, major sources of nutrition and traditional food consumption, dietary patterns and nutrient and food group intakes, and compare these to national and international recommendations. METHODS: This dietary assessment was conducted as part of an observational, cross-sectional Child Health and Nutrition study. Three 24-h dietary recalls were completed with the parent/care-giver of each participant over 2-4 weeks, capturing a pay-week, non-pay-week and weekend day from October 2017-February 2018. Additional information collected included sociodemographic data, food security status, usual cooking practices, and attendance at playgroup. RESULTS: Diet histories for 40 children were included in the analysis (~ 40% of the population). Breast feeding rates were high (85%), with mothers exclusively feeding on demand. Very few participants met recommended intakes for wholegrains (n = 4, 10%), vegetables (n = 7, 18%), dairy (n = 5, 18%) and fruit (n = 13, 33%), while more children met the guidelines for meat (n = 19, 48%) and discretionary food intake (n = 28, 70%). Traditional foods were always nutritionally dense and consumed frequently (n = 22, 55% of children). Statistically significant pay-cycle differences in intakes of all macro-, and numerous micro-nutrients were observed. CONCLUSIONS: Many positive early feeding practices are currently enacted in remote Aboriginal communities including responsive and long duration breastfeeding, and nutrient-dense traditional food consumption from earliest solids introduction. However, the non-pay-week/pay-week cycle is impacting the quality and quantity of children's diets at a time of rapid growth and development.

Working together in Aboriginal health: a framework to guide health professional practice.

BACKGROUND: Working effectively with Aboriginal and Torres Strait Islander people is important for maximising the effectiveness of a health care interaction between and Aboriginal and Torres Strait Islander patients and a health professional. This paper presents a framework to guide health professional practice in Aboriginal and Torres Strait Islander health. METHODS: This qualitative study was based in a social constructionist epistemology and was guided by a critical social research methodology. Two methods were employed: interviews with Aboriginal health workers and allied health professionals about their experiences of working together in Aboriginal health, and an auto-ethnography conducted by the researcher, a non-Aboriginal dietitian and researcher who worked closely with two Aboriginal communities while undertaking this research. RESULTS: Interviews were conducted with 44 allied health professionals and Aboriginal health workers in 2010. Critical Social research, which involves the deconstruction and reconstruction of data, was used to analyse data and guided the evolution of themes. Strategies that were identified as important to guide practice when working respectfully in Aboriginal health included: Aboriginal and non-Aboriginal people working with Aboriginal health workers, using appropriate processes, demonstrating commitment to building relationships, relinquishing control, having an awareness of Aboriginal history, communication, commitment, flexibility, humility, honesty, and persistence. Reciprocity and reflection/reflexivity were found to be cornerstone strategies from which many other strategies naturally followed. Strategies were grouped into three categories: approach, skills and personal attributes which led to development of the Framework. CONCLUSIONS: The approach, skills and personal attributes of health professionals are important when working in Aboriginal health. The strategies identified in each category provide a Framework for all health professionals to use when working with Aboriginal and Torres Strait Islander people.

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.

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.

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.

Cross-country comparison of strategies for building consumer trust in food.

Consumer trust in the modern food system is essential given its complexity. Contexts vary across countries with regard to food incidents, regulation and systems. It is therefore of interest to compare how key actors in different countries might approach (re)building consumer trust in the food system; and particularly relevant to understanding how food systems in different regions might learn from one another. The purpose of this paper is to explore differences between strategies for (re)building trust in food systems, as identified in two separate empirical studies, one conducted in Australia, New Zealand and the UK (Study 1) and another on the Island of Ireland (Study 2). Interviews were conducted with media, food industry and food regulatory actors across the two studies (n = 105 Study 1; n = 50 Study 2). Data were coded into strategy statements, strategies describing actions to (re)build consumer trust. Strategy statements were compared between Studies 1 and 2 and similarities and differences were noted. The strategy statements identified in Study 1 to (re)build consumer trust in the food system were shown to be applicable in Study 2, however, there were notable differences in the contextual factors that shaped the means by which strategies were implemented. As such, the transfer of such approaches across regions is not an appropriate means to addressing breaches in consumer trust. Notwithstanding, our data suggest that there is still capacity to learn between countries when considering strategies for (re)building trust in the food system but caution must be exercised in the transfer of approaches.

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.

Activities of Daily Living Ontology for Ubiquitous Systems: Development and Evaluation.

Ubiquitous eHealth systems based on sensor technologies are seen as key enablers in the effort to reduce the financial impact of an ageing society. At the heart of such systems sit activity recognition algorithms, which need sensor data to reason over, and a ground truth of adequate quality used for training and validation purposes. The large set up costs of such research projects and their complexity limit rapid developments in this area. Therefore, information sharing and reuse, especially in the context of collected datasets, is key in overcoming these barriers. One approach which facilitates this process by reducing ambiguity is the use of ontologies. This article presents a hierarchical ontology for activities of daily living (ADL), together with two use cases of ground truth acquisition in which this ontology has been successfully utilised. Requirements placed on the ontology by ongoing work are discussed.

Talk, Text, Tag? Understanding Self-Annotation of Smart Home Data from a User's Perspective.

Delivering effortless interactions and appropriate interventions through pervasive systems requires making sense of multiple streams of sensor data. This is particularly challenging when these concern people's natural behaviours in the real world. This paper takes a multidisciplinary perspective of annotation and draws on an exploratory study of 12 people, who were encouraged to use a multi-modal annotation app while living in a prototype smart home. Analysis of the app usage data and of semi-structured interviews with the participants revealed strengths and limitations regarding self-annotation in a naturalistic context. Handing control of the annotation process to research participants enabled them to reason about their own data, while generating accounts that were appropriate and acceptable to them. Self-annotation provided participants an opportunity to reflect on themselves and their routines, but it was also a means to express themselves freely and sometimes even a backchannel to communicate playfully with the researchers. However, self-annotation may not be an effective way to capture accurate start and finish times for activities, or location associated with activity information. This paper offers new insights and recommendations for the design of self-annotation tools for deployment in the real world.

Obtaining consumer perspectives using a citizens' jury: does the current country of origin labelling in Australia allow for informed food choices?

BACKGROUND: Contemporary food systems are vast and complex, creating greater distance between consumers and their food. Consequently, consumers are required to put faith in a system of which they have limited knowledge or control. Country of origin labelling (CoOL) is one mechanism that theoretically enables consumer knowledge of provenance of food products. However, this labelling system has recently come under Australian Government review and recommendations for improvements have been proposed. Consumer engagement in this process has been limited. Therefore this study sought to obtain further consumer opinion on the issue of CoOL and to identify the extent to which Australian consumers agree with Australian Government recommendations for improvements. METHODS: A citizens' jury was conducted with a sample of 14 South Australian consumers to explore their perceptions on whether the CoOL system allows them to make informed food choices, as well as what changes (if any) need to be made to enable informed food choices (recommendations). RESULTS: Overall, jurors' perception of usefulness of CoOL, including its ability to enable consumers to make informed food choices, fluctuated throughout the Citizens' Jury. Initially, the majority of the jurors indicated that the labels allowed informed food choice, however by the end of the session the majority disagreed with this statement. Inconsistencies within jurors' opinions were observed, particularly following delivery of information from expert witnesses and jury deliberation. Jurors provided recommendations for changes to be made to CoOL, which were similar to those provided in the Australian Government inquiry. CONCLUSIONS: Consumers in this study engaged with the topical issue of CoOL and provided their opinions. Overall, consumers do not think that the current CoOL system in Australia enables consumers to make informed choices. Recommendations for changes, including increasing the size of the label and the label's font, and standardising its position, were made.

Consumer trust in the Australian food system - The everyday erosive impact of food labelling.

Consumer trust in food system actors is foundational for ensuring consumer confidence in food safety. As food labelling is a direct communication between consumers and food system actors, it may influence consumer perceptions of actor trustworthiness. This study explores the judgements formed about the trustworthiness of the food system and its actors through labelling, and the expectations these judgements are based on. In-depth, semi-structured interviews with 24 Australian consumers were conducted. Theoretical sampling focussed on shopping location, dietary requirements, rurality, gender, age and educational background. The methodological approach used (adaptive theory) enabled emerging data to be examined through the lens of a set of guiding theoretical concepts, and theory reconsidered in light of emerging data. Food labelling acted as a surrogate for personal interaction with industry and government for participants. Judgements about the trustworthiness of these actors and the broader food system were formed through interaction with food labelling and were based on expectations of both competence and goodwill. Interaction with labelling primarily reduced trust in actors within the food system, undermining trust in the system as a whole. Labelling has a role as an access point to the food system. Access points are points of vulnerability for systems, where trust can be developed, reinforced or broken down. For the participants in this study, in general labelling demonstrates food system actors lack goodwill and violate their fiduciary responsibility. This paper provides crucial insights for industry and policy actors to use this access point to build, rather than undermine, trust in food systems.

Managing uncertainty about food risks - Consumer use of food labelling.

General consumer knowledge of and engagement with the production of food has declined resulting in increasing consumer uncertainty about, and sensitivity to, food risks. Emphasis is therefore placed on providing information for consumers to reduce information asymmetry regarding food risks, particularly through food labelling. This study examines the role of food labelling in influencing consumer perceptions of food risks. In-depth, 1-h interviews were conducted with 24 Australian consumers. Participants were recruited based on an a priori defined food safety risk scale, and to achieve a diversity of demographic characteristics. The methodological approach used, adaptive theory, was chosen to enable a constant interweaving of theoretical understandings and empirical data throughout the study. Participants discussed perceiving both traditional (food spoilage/microbial contamination) and modern (social issues, pesticide and 'chemical' contamination) risks as present in the food system. Food labelling was a symbol of the food system having managed traditional risks, and a tool for consumers to personally manage perceived modern risks. However, labelling also raised awareness of modern risks not previously considered. The consumer framing of risk presented demonstrates the need for more meaningful consumer engagement in policy decision making to ensure risk communication and management meet public expectations. This research innovatively identifies food labelling as both a symbol of, and a tool for, the management of perceived risks for consumers. Therefore it is imperative that food system actors ensure the authenticity and trustworthiness of all aspects of food labelling, not only those related to food safety.

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.

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.

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.

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.

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

Cornelia de Lange syndrome (CdLS) is a multiple malformation disorder characterized by dysmorphic facial features, mental retardation, growth delay and limb reduction defects. We indentified and characterized a new gene, NIPBL, that is mutated in individuals with CdLS and determined its structure and the structures of mouse, rat and zebrafish homologs. We named its protein product delangin. Vertebrate delangins have substantial homology to orthologs in flies, worms, plants and fungi, including Scc2-type sister chromatid cohesion proteins, and D. melanogaster Nipped-B. We propose that perturbed delangin function may inappropriately activate DLX genes, thereby contributing to the proximodistal limb patterning defects in CdLS. Genome analyses typically identify individual delangin or Nipped-B-like orthologs in diploid animal and plant genomes. The evolution of an ancestral sister chromatid cohesion protein to acquire an additional role in developmental gene regulation suggests that there are parallels between CdLS and Roberts syndrome.