Communities of practice to facilitate change in health professions education: A realist synthesis.

BACKGROUND: Communities of practice could contribute to transformations in health professions education to meet complex and emerging challenges. However, little is known about the underlying mechanisms of communities of practice in this setting, and how context influences outcomes. OBJECTIVE: To understand when, why and how communities of practice with health professions education faculty work to facilitate higher education change. DESIGN: A realist synthesis according to the RAMESES standards and steps described by Pawson and colleagues. REVIEW METHODS: Early scoping of the literature informed the development of an initial program theory to describe underlying assumptions about how communities of practice in higher education, implemented with health professions education faculty, were likely to work. The theory was tested and further refined through a realist synthesis. A systematic search for evidence using search terms 'faculty', 'communities of practice' and 'higher education' and related terms was supplemented with citation tracking and hand searching of significant authors and journals. Following study appraisal, data were extracted and synthesised from 21 manuscripts describing 16 communities of practice. The realist synthesis focused on identifying patterns in context-mechanism-outcome interactions, and the alignment with substantive theory. RESULTS: From the included manuscripts, ten context-mechanism-outcome configurations were identified that describe a range of individual, interpersonal and institutional outcomes of communities of practice with health professions education faculty and context-mechanism interactions that contribute to achieving these outcomes. CONCLUSIONS: This study expands theoretical understandings of how and why communities of practice work. There is value in communities of practice in the higher education sector, primarily in the field of health professions education. Communities of practice implemented in the context of complex change with participants who have a desire to participate can facilitate change in health professions education, including institutional level changes, through reflection, experiential learning and creating a shared agenda for change. Findings from this study can be used by policy and decision-makers within health education to best apply communities of practice to achieve meaningful outcomes.

Genome sequencing in congenital cataracts improves diagnostic yield.

Congenital cataracts are one of the major causes of childhood-onset blindness around the world. Genetic diagnosis provides benefits through avoidance of unnecessary tests, surveillance of extraocular features, and genetic family information. In this study, we demonstrate the value of genome sequencing in improving diagnostic yield in congenital cataract patients and families. We applied genome sequencing to investigate 20 probands with congenital cataracts. We examined the added value of genome sequencing across a total cohort of 52 probands, including 14 unable to be diagnosed using previous microarray and exome or panel-based approaches. Although exome or genome sequencing would have detected the variants in 35/52 (67%) of the cases, specific advantages of genome sequencing led to additional diagnoses in 10% (5/52) of the overall cohort, and we achieved an overall diagnostic rate of 77% (40/52). Specific benefits of genome sequencing were due to detection of small copy number variants (2), indels in repetitive regions (2) or single-nucleotide variants (SNVs) in GC-rich regions (1), not detectable on the previous microarray, exome sequencing, or panel-based approaches. In other cases, SNVs were identified in cataract disease genes, including those newly identified since our previous study. This study highlights the additional yield of genome sequencing in congenital cataracts.

Using realist approaches in nutrition and dietetics research.

AIM: The aim of this study was to explore the use and future potential of realist approaches to research in nutrition and dietetics. METHODS: A targeted literature review was used to search key journals (n = 7) in nutrition and dietetics to identify existing research using a realist approach. A narrative synthesis was conducted to explore findings in relation to the research aim. RESULTS: Nine research papers (four realist evaluations, five realist reviews) describing seven nutrition interventions were found, which revealed the application of realist research in nutrition and dietetics has focused on public health interventions. Realist research provided a deeper, more nuanced understanding of varied outcomes including the role of context, and contributed to the development of theory about how and why interventions work. As a theory-driven research method, realist research was able to assist in overcoming methodological shortcomings to contribute to meaningful, transferable findings. CONCLUSION: The results highlight the potential contribution of the realist research in nutrition and dietetics to evaluate interventions and inform future practice.

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.

Genetic testing in nephrology clinical practice has moved rapidly from a rare specialized test to routine practice both in pediatric and adult nephrology. However, clear information pertaining to the likely outcome of testing is still missing. Here we describe the experience of the accredited Australia and New Zealand Renal Gene Panels clinical service, reporting on sequencing for 552 individuals from 542 families with suspected kidney disease in Australia and New Zealand. An increasing number of referrals have been processed since service inception with an overall diagnostic rate of 35%. The likelihood of identifying a causative variant varies according to both age at referral and gene panel. Although results from high throughput genetic testing have been primarily for diagnostic purposes, they will increasingly play an important role in directing treatment, genetic counseling, and family planning.

Revealing hidden genetic diagnoses in the ocular anterior segment disorders.

PURPOSE: Ocular anterior segment disorders (ASDs) are clinically and genetically heterogeneous, and genetic diagnosis often remains elusive. In this study, we demonstrate the value of a combined analysis protocol using phenotypic, genomic, and pedigree structure data to achieve a genetic conclusion. METHODS: We utilized a combination of chromosome microarray, exome sequencing, and genome sequencing with structural variant and trio analysis to investigate a cohort of 41 predominantly sporadic cases. RESULTS: We identified likely causative variants in 54% (22/41) of cases, including 51% (19/37) of sporadic cases and 75% (3/4) of cases initially referred as familial ASD. Two-thirds of sporadic cases were found to have heterozygous variants, which in most cases were de novo. Approximately one-third (7/22) of genetic diagnoses were found in rarely reported or recently identified ASD genes including PXDN, GJA8, COL4A1, ITPR1, CPAMD8, as well as the new phenotypic association of Axenfeld-Rieger anomaly with a homozygous ADAMTS17 variant. The remainder of the variants were in key ASD genes including FOXC1, PITX2, CYP1B1, FOXE3, and PAX6. CONCLUSIONS: We demonstrate the benefit of detailed phenotypic, genomic, variant, and segregation analysis to uncover some of the previously "hidden" heritable answers in several rarely reported and newly identified ocular ASD-related disease genes.

A dietetic clinical educator enhances the experience and assessment of clinical placement.

AIM: The aim of this study was to evaluate the impact of a Clinical Educator model on the learning experience and environment for students, preceptors and managers. METHODS: A Clinical Educator position was established for the 10-week dietetic clinical placement at Edith Cowan University. The Clinical Educator was responsible for overseeing the placement and assisting in the supervision of students. A qualitative descriptive approach using focus groups with purposive sampling explored the research question. Students (n = 10), preceptors (n = 21) and managers (n = 3) participated in separate focus groups. Data were thematically analysed with consideration given to participant and focus group commonalities and differences. RESULTS: The findings revealed that the Clinical Educator (i) reduced the logistical burden of student placements and improved time efficiency; (ii) facilitated student assessment within a programme of assessment; (iii) was uniquely positioned to provide support and enhance student confidence; and (iv) enhanced capacity to manage underperforming and challenging students. CONCLUSIONS: The Clinical Educator model increased student confidence, facilitated quality assessment and supported the management of underperforming students. This was achieved by reducing the burden of clinical placements, facilitating effective and timely communication between stakeholders and supporting the establishment of meaningful relationships which enriched learning. The results highlight the importance of the people involved in placement to facilitate a positive student learning environment and high quality assessment.

Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility Study.

Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia. This paper aims to assess the feasibility and reliability of population screening for FXS using a pilot study in one hospital. A total of 1971 mothers consented for 2000 newborns to be tested using routine NBS dried blood spot samples. DNA was extracted and a modified PCR assay with a chimeric CGG primer was used to detect fragile X alleles in both males and females in the normal, premutation, and full mutation ranges. A routine PCR-based fragile X assay was run in parallel to validate the chimeric primer assay. Babies with CGG repeat number ≥59 were referred for family studies. One thousand nine hundred and ninety NBS samples had a CGG repeat number less than 55 (1986 < 50); 10 had premutation alleles >54 CGG repeats (1/123 females and 1/507 males). There was complete concordance between the two PCR-based assays. A recent review revealed no clinically identified cases in the cohort up to 5 years later. The cost per test was $AUD19. Fragile X status can be determined on routine NBS samples using the chimeric primer assay. However, whilst this assay may not be considered cost-effective for population screening, it could be considered as a second-tier assay to a developed immunoassay for fragile X mental retardation protein (FMRP).

Designing programmes of assessment: A participatory approach.

Programmatic approaches to assessment provide purposeful and meaningful assessment yet few examples of their development exist. The aim of this study was to describe the development of a programme of assessment using a participatory action research (PAR) approach. Nine work-based assessors together with three academics met on six occasions to explore the current approach to competency-based assessment in the placement component of a dietetics university course, the findings of which were used to design a programme of assessment. Findings revealed disconnect between current assessment approaches and best practice. The PAR methodology fostered a shared vision for the design of a programmatic approach to assessment and strong leadership was essential. Participants experienced a philosophical shift in their views towards assessment, supporting the implementation of a new assessment programme. This paper is the first to describe a PAR approach as a feasible and effective way forward in the design of programmatic assessment. The approach engaged stakeholders to strengthen their abilities as work-based assessors and produced champions for best practice assessment.

Copy number variants in the sheep genome detected using multiple approaches.

BACKGROUND: Copy number variants (CNVs) are a type of polymorphism found to underlie phenotypic variation, both in humans and livestock. Most surveys of CNV in livestock have been conducted in the cattle genome, and often utilise only a single approach for the detection of copy number differences. Here we performed a study of CNV in sheep, using multiple methods to identify and characterise copy number changes. Comprehensive information from small pedigrees (trios) was collected using multiple platforms (array CGH, SNP chip and whole genome sequence data), with these data then analysed via multiple approaches to identify and verify CNVs. RESULTS: In total, 3,488 autosomal CNV regions (CNVRs) were identified in this study, which substantially builds on an initial survey of the sheep genome that identified 135 CNVRs. The average length of the identified CNVRs was 19 kb (range of 1 kb to 3.6 Mb), with shorter CNVRs being more frequent than longer CNVRs. The total length of all CNVRs was 67.6Mbps, which equates to 2.7 % of the sheep autosomes. For individuals this value ranged from 0.24 to 0.55 %, and the majority of CNVRs were identified in single animals. Rather than being uniformly distributed throughout the genome, CNVRs tended to be clustered. Application of three independent approaches for CNVR detection facilitated a comparison of validation rates. CNVs identified on the Roche-NimbleGen 2.1M CGH array generally had low validation rates with lower density arrays, while whole genome sequence data had the highest validation rate (>60 %). CONCLUSIONS: This study represents the first comprehensive survey of the distribution, prevalence and characteristics of CNVR in sheep. Multiple approaches were used to detect CNV regions and it appears that the best method for verifying CNVR on a large scale involves using a combination of detection methodologies. The characteristics of the 3,488 autosomal CNV regions identified in this study are comparable to other CNV regions reported in the literature and provide a valuable and sizeable addition to the small subset of published sheep CNVs.