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.

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.

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.

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.

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.

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.

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.

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.

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.