Ethical and practical challenges of sharing data from genome-wide association studies: the eMERGE Consortium experience.

In 2007, the National Human Genome Research Institute (NHGRI) established the Electronic MEdical Records and GEnomics (eMERGE) Consortium (www.gwas.net) to develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research. One of the major ethical and administrative challenges for the eMERGE Consortium has been complying with existing data-sharing policies. This paper discusses the challenges of sharing genomic data linked to health information in the electronic medical record (EMR) and explores the issues as they relate to sharing both within a large consortium and in compliance with the National Institutes of Health (NIH) data-sharing policy. We use the eMERGE Consortium experience to explore data-sharing challenges from the perspective of multiple stakeholders (i.e., research participants, investigators, and research institutions), provide recommendations for researchers and institutions, and call for clearer guidance from the NIH regarding ethical implementation of its data-sharing policy.

Intersectionality and COVID-19: Academic Medicine Faculty's Lived Experiences of Well-Being, Workload, and Productivity During the Pandemic.

Purpose: The aim of this study was to utilize an intersectional framework to examine academic faculty's lived experiences during COVID-19. Specifically, we set out to: (1) describe the multiple intersectional identities (e.g., gender, race/ethnicity, rank, caregiver status, disability status) represented by the faculty, (2) examine potential disparities in well-being, workload, and productivity linked to these intersectional factors, and (3) identify qualitative themes endorsed by faculty as they relate to lived experiences during COVID-19. Methods: This was a cross-sectional mixed-methods research study. The Center for Women in Medicine and Science (CWIMS) at the University of Minnesota developed and implemented a survey between February-June of 2021 in response to national reports of disparities in the impacts of COVID-19 on faculty with lived experiences from multiple intersections. Results: There were 291 full-time faculty who participated in the study. Quantitative findings indicated that faculty with multiple intersectional identities (e.g., woman+assistant professor+caregiver+underrepresented in medicine) reported greater depression symptoms, work/family conflict, and stress in contrast to faculty with fewer intersectional identities. Furthermore, faculty with more intersectional identities reported higher clinical workloads and service responsibilities and lower productivity with regard to research article submissions, publications, and grant submissions in contrast to faculty with fewer intersectional identities. Qualitative findings supported quantitative findings and broadened understanding of potential underlying reasons. Conclusions: Findings confirm anecdotal evidence that faculty with lived experiences from multiple intersections may be disproportionately experiencing negative outcomes from the pandemic. These findings can inform decisions about how to address these disparities moving into the next several years with regard to promotion and tenure, burnout and well-being, and faculty retention in academic medical settings. Given these findings, it is also important to intentionally plan responses for future public health crises to prevent continued disparities for faculty with multiple intersectional identities.

PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies.

Genome-wide, imputed, sequence, and structural data are now available for exceedingly large sample sizes. The needs for data management, handling population structure and related samples, and performing associations have largely been met. However, the infrastructure to support analyses involving complexity beyond genome-wide association studies is not standardized or centralized. We provide the PLatform for the Analysis, Translation, and Organization of large-scale data (PLATO), a software tool equipped to handle multi-omic data for hundreds of thousands of samples to explore complexity using genetic interactions, environment-wide association studies and gene-environment interactions, phenome-wide association studies, as well as copy number and rare variant analyses. Using the data from the Marshfield Personalized Medicine Research Project, a site in the electronic Medical Records and Genomics Network, we apply each feature of PLATO to type 2 diabetes and demonstrate how PLATO can be used to uncover the complex etiology of common traits.

Utilisation of eye care services by urban and rural Australians.

AIM: To investigate factors related to the use of eye care services in Australia. METHODS: Health, eye care service use, and sociodemographic data were collected in a structured interview of participants in a population based study. All participants had a standard eye examination. RESULTS: Men (OR 1.3 CL 1.02, 1.7), those who spoke Greek (OR 2.1 CL 1.1, 3.8) or Italian (OR 1.9 CL 1.0, 3.3), and those without private health insurance (OR 1.59 CL 1.22, 2.04) were more likely to have not used eye care services. Ophthalmology services were utilised at lower rates in rural areas (OR 0.14 CL 0.09, 0.2). Approximately 40% of participants with undercorrected refractive error, cataract, and undiagnosed glaucoma had seen either an ophthalmologist, optometrist, or both within the last year. CONCLUSION: Despite the similarity in prevalence of eye disease in urban and rural areas, significant differences exist in the utilisation of eye care services. Sex, private health insurance, urban residence, and the ability to converse in English were significant factors associated with eye healthcare service use. Many participants had undiagnosed eye disease despite having seen an eye care provider in the last year.

Projected prevalence of age-related cataract and cataract surgery in Australia for the years 2001 and 2021: pooled data from two population-based surveys.

This study aimed to estimate the number of Australians over 50 with cataract in the years 2001 and 2021. Data from two population-based studies were pooled: the Blue Mountains Eye Study and Melbourne Visual Impairment Project and Australian Bureau of Statistics population projections were used. Similar definitions for the three cataract types were used in the two studies (nuclear >/= grade 4, posterior sub-capsular >/= 1 mm, cortical >/= 10% lens area or >/= 25% circumference). Combining the three types and prior surgery, it was estimated that in 2001, 1.7 million Australians had clinically significant cataract in either eye and 320,000 had previously undergone cataract surgery. It was estimated that the number of persons with cataract will rise to 2.7 million by 2021 (over 500,000 will have had cataract surgery). The number of Australians with cataract will grow by two-thirds during the next 20 years, reflecting continued population ageing. Health care delivery systems will need to develop methods to handle this increased workload.