The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies

<p>Abstract</p> <p>Introduction</p> <p>The eMERGE (electronic MEdical Records and GEnomics) Network is an NHGRI-supported consortium of five institutions to explore the utility of DNA repositories coupled to Electronic Medical Record (EMR) systems for advancing discovery in genome science. eMERGE also includes a special emphasis on the ethical, legal and social issues related to these endeavors.</p> <p>Organization</p> <p>The five sites are supported by an Administrative Coordinating Center. Setting of network goals is initiated by working groups: (1) Genomics, (2) Informatics, and (3) Consent & Community Consultation, which also includes active participation by investigators outside the eMERGE funded sites, and (4) Return of Results Oversight Committee. The Steering Committee, comprised of site PIs and representatives and NHGRI staff, meet three times per year, once per year with the External Scientific Panel.</p> <p>Current progress</p> <p>The primary site-specific phenotypes for which samples have undergone genome-wide association study (GWAS) genotyping are cataract and HDL, dementia, electrocardiographic QRS duration, peripheral arterial disease, and type 2 diabetes. A GWAS is also being undertaken for resistant hypertension in ≈2,000 additional samples identified across the network sites, to be added to data available for samples already genotyped. Funded by ARRA supplements, secondary phenotypes have been added at all sites to leverage the genotyping data, and hypothyroidism is being analyzed as a cross-network phenotype. Results are being posted in dbGaP. Other key eMERGE activities include evaluation of the issues associated with cross-site deployment of common algorithms to identify cases and controls in EMRs, data privacy of genomic and clinically-derived data, developing approaches for large-scale meta-analysis of GWAS data across five sites, and a community consultation and consent initiative at each site.</p> <p>Future activities</p> <p>Plans are underway to expand the network in diversity of populations and incorporation of GWAS findings into clinical care.</p> <p>Summary</p> <p>By combining advanced clinical informatics, genome science, and community consultation, eMERGE represents a first step in the development of data-driven approaches to incorporate genomic information into routine healthcare delivery.</p

Sharing lessons learnt across European cardiovascular research consortia

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The development of simulated learning environments involving coroner’s court attendance in mental health nursing education

Simulated learning environments (SLEs) provide students with the opportunity to experience complex practice elements with minimal professional risks. This article explores the development of an SLE in undergraduate mental health nursing education. The SLE focuses on events surrounding a client death and follows attendance at a coroner’s court. Student learning outcomes are focused on evaluating essential components of nursing care including communication, record-keeping, risk-taking and ethical decision-making. The SLE, which is now in its fourth iteration, allows educators to review and adapt the teaching practices to achieve the curriculum learning outcomes and encapsulate the Nursing and Midwifery Council’s Code. This article proposes future possibilities for the use of complex simulation dramas to enhance nursing student preparedness for registration

Making Sense of Long-Term Physical Activity Tracker Data: The challenge of Incompleteness

Millions of people have already collected weeks, months and even years of data about their own health and physical activity levels. The potential is enormous for use in personal applications as well as for public health analysis of large populations at low cost. However, the reality is many people fail to wear their tracker and record data all day every day especially over the long-term. The resulting incompleteness in data poses an important challenge for interpreting long-term tracker data, in terms of both making sense of it and in dealing with the uncertainty of inferences based on it. Surprisingly, there has been little work into defining the problem, its extent and how it should be measured and addressed. This thesis tackles this key challenge and we demonstrate the need for a term to describe and quantify this challenge. We introduce the term, adherence, which quantifies the completeness in such data. We also offer interface designs that accounted for adherence to support self-monitoring and reflection. Bringing these together, we provide broader definitions and guidelines for incorporating adherence when making sense of long-term physical activity tracker data, both in personal applications and in public health research results. This thesis is based on three studies. First is a semester-long study of tracker use by 237 University students. Second is a study of 21 existing long-term physical activity trackers and provided the first richly qualitative exploration of physical activity and adherence of such users. It also evaluated the iStuckWithIt, a long-term physical activity data user interface, and reported on insights gained within and as aided by a tutorial and reflection scaffolding. In the final study, we drew on 12 diverse datasets, for 753 users, with over 77,000 days with data and 73,000 days missing to explore the impact of different definitions of adherence and methods for dealing with its implications

A Visual Approach to Improving the Experience of Health Information for Vulnerable Individuals

Many individuals with low health literacy (LHL) and limited English proficiency (LEP) have poor experiences consuming health information: they find it unengaging, unappealing, difficult to understand, and un-motivating. These negative experiences may blunt, or even sabotage, the desired effect of communicating health information: to increase engagement and ability to manage health. It is imperative to find solutions to improve poor experiences of health information, because such experiences heighten vulnerability to poor health outcomes. We aimed to address a gap in the health literacy literature by studying the patient experience of health information and how visualization might be able to help. Our four studies involved patients presented with health information in various settings to improve understanding and management of their care. We used semi-structured interviews and observations to understand patient experiences of receiving personal health information in the hospital. We learned that the return of results is desired and has the potential to promote patient engagement with care. We developed a novel method to analyze LHL, LEP caregiver experience and information needs in the community setting. The novel method increased our understanding and ability to detect differences in experiences within the same ethnic group, based on language preference. Next, we interrogated the literature for a solution to easily communicate complicated health information to disinterested, LHL, LEP individuals. We found that visualizations can help increase interest, comprehension, support faster communication, and even help broach difficult topics. Finally, our findings were used to develop a novel prototype to improve experiences of consuming genetic risk information for those having LHL and LEP. Unlike traditional approaches that focus on communicating risk numbers and probabilities, the novelty of our approach was that we focused on communicating risk as a feeling. We achieved this by leveraging vicarious learning via real patient experience materials (e.g., quotes, videos) and empathy with an emotive relational agent. We evaluated and compared the prototype to standard methods of communicating genetic risk information via a mixed methods approach that included surveys, questionnaires, interviews, observations, image analysis, and facial analysis. Main outcome variables were perceived ease of understanding, comprehension, emotional response, and motivation. We employed t-tests, ANOVAs, directed content analysis, correlation, regression, hierarchical clustering, and Chernoff faces to answer the research questions. All variables were significantly different for the prototype compared to the standard method, except for motivation as rated by 32 LHL, LEP community members. Findings revealed that LHL, LEP individuals have difficulty appropriately processing standard methods of communicating risk information, such as risk numbers supported by visual aids. Further, appealing visuals may inappropriately increase confidence in understanding of information. Visualizations affected emotions, which influenced perceived ease of understanding and motivation to take action on the information. Comprehension scores did not correlate with perceived ease of understanding, emotional response, or motivation. Findings suggest that providing access to comprehensible health information may not be enough to motivate patients to engage with their care; providing a good experience (taking into account the aesthetics and emotional response) of health information may be essential to optimize outcomes

An N-of-1 Evaluation Framework for Behaviour Change Applications

Mobile behaviour change applications should be evaluated for their effectiveness in promoting the intended behavior changes. In this paper we argue that the 'gold standard' form of effectiveness evaluation, the randomised controlled trial, has shortcomings when applied to mobile applications. We propose that N-of-1 (also known as single case design) based approaches have advantages. There is currently a lack of guidance for researchers and developers on how to take this approach. We present a framework encompassing three phases and two related checklists for performing N-of-1 evaluations. We also present our analysis of using this framework in the development and deployment of an app that encourages people to walk more. Our key findings are that there are challenges in designing engaging apps that automate N-of-1 procedures, and that there are challenges in collecting sufficient data of good quality. Further research should address these challenges

QuantifyMe: An Open-Source Automated Single-Case Experimental Design Platform

Smartphones and wearable sensors have enabled unprecedented data collection, with many products now providing feedback to users about recommended step counts or sleep durations. However, these recommendations do not provide personalized insights that have been shown to be best suited for a specific individual. A scientific way to find individualized recommendations and causal links is to conduct experi ments using single-case experimental design; however, properly designed single-case experiments are not easy to conduct on oneself. We designed, developed, and evaluated a novel platform, QuantifyMe, for novice self-experimenters to conduct proper-methodology single-case self-experiments in an automated and scientific manner using their smartphones. We provide software for the platform that we used (available for free on GitHub), which provides the methodological elements to run many kinds of customized studies. In this work, we evaluate its use with four different kinds of personalized investigations, examining how variables such as sleep duration and regularity, activity, and leisure time affect personal happiness, stress, productivity, and sleep efficiency. We conducted a six-week pilot study (N = 13) to evaluate QuantifyMe. We describe the lessons learned developing the platform and recommendations for its improvement, as well as its potential for enabling personalized insights to be scientifically evaluated in many individuals, reducing the high administrative cost for advancing human health and wellbeing. Keywords: single-case experimental design; mobile health; wearable sensors; self-experiment; self-trackin

From Faculty Development to the Classroom: A Qualitative Study of How Nurse Educators Turn Faculty Development into Action

The purpose of this qualitative study was to better understand the transfer of learning by uncovering how various factors supported the integration of knowledge and skills gleaned from the Faculty Development: Integrated Technology into Nursing Education and Practice Initiative (ITNEP) programs into nursing education curricula. Through interviews with 20 participants from four ITNEP programs, this study confirmed the importance of learner characteristics, program design elements, and factors in the work environment for supporting successful transfer of learning and supports a variety of other transfer of learning research findings. New or seldom discussed supportive individual characteristics were found, including: leadership abilities, lifelong learning, ability to recognize limitations, persistence, creativity, and risk-taking. Study findings suggest that proactive personality may support transfer of learning. Participants maintained motivation from pre-training through post-training at a high enough level to successfully transfer learning. The importance of networking opportunities, a diversity of perspectives, post conference support, and teams in programs designs were found to positively influence transfer and were discussed in relation to social influence. The variety of supportive factors in the participants' work environments, including strategic alignment, strengthens the assertions that transfer may be individually context dependent. Barriers to transfer efforts in the work environment were also addressed. Additionally, while patterns of specific characteristics emerged, interacting findings were found threaded throughout

Didactics of ICT in secondary education: Conceptual issues and practical perspectives

While there is a huge research literature on the field of ICT (Information and Communication Technology) as a tool in teaching and learning, there is much less research on the area of ICT as a subject or similar designations such as school informatics. As a result, there is a lack of theoretical grounding of the didactics of ICT and associated teaching and learning processes. One of the main reasons for the lack of theoretical underpinnings of the didactics of ICT is that there have been in the past and there persist even now strong disagreements and confusion about the nature of ICT as a school subject. While the content of the subject has been clearly defined in the school curriculum, the didactics of ICT is still unclear. This paper suggests ways forward in formulating a framework for conceptualizing the didactics of ICT. The framework draws on research in learning paradigms, epistemology, general didactics, conceptual, and curricular issues of ICT. The article also reports on implementations and evaluations of the framework that were carried out by trainee teachers in secondary schools