Mater Health Services

Introduction Genomic testing is reshaping nephrology practice, yet the structure, outcomes, and implementation of kidney genetics services remain poorly characterized. Methods We conducted a two part scoping study comprising (i) a literature review (JBI methodology, PRISMA ScR compliant; OSF registration doi.org/10.17605/OSF.IO/N32VA) of English language publications (2000 to 2025) describing kidney genetics services and outcomes, and (ii) an international stakeholder consultation of clinic leads to capture real world service and implementation experiences. Results Sixty studies were included, predominantly from North America (n=23), followed by United Kingdom/Ireland (n=5), Europe (n=17), Australia/New Zealand (n=10), and Asia (n=5). Among the 25 studies describing clinic models, four types were identified: multidisciplinary integrated (n=12), nephrologist-led (n=9), mainstreaming (n=2), and traditional genetics referral (n=2). Clinic structure varied by region. Outcome reporting focused on diagnostic yield (92%), with limited data on timeliness (16%), patient-reported outcomes (12%), or implementation outcomes (4%). Test penetration was high across regions and models, while diagnostic yield varied. Nephrologist led clinics demonstrated comparable performance to multidisciplinary models when adequately supported. International stakeholder consultation data (n=48) revealed diversification of clinic models across regions. In Australia/New Zealand, multidisciplinary clinics predominated, supported by public funding and in house or hybrid laboratory. United Kingdom/Ireland clinics used public funding and a national laboratory. North American clinics show greater heterogeneity, with higher prevalence of nephrologist led models, reliance on commercial laboratories, and mixed or private funding. Asian clinics reported nephrologist led models, with resource constraints, and hybrid testing and funding arrangements. Comprehensive sequencing with virtual panels predominated in Australia/New Zealand, United Kingdom, and Europe; phenotype driven panels with or without reflex testing were more common in North America. Conclusions Kidney genetics care is expanding but remains unevenly implemented. Nephrologist led and multidisciplinary models can be effective with appropriate support. Patient selection may influence diagnostic yield more than testing modality. Standardized outcome reporting and theory driven implementation evaluation are essential for delivering equitable, sustainable genomic services.

The rising incidence of skin cancer places a significant burden on Australia's health workforce. To support workforce planning, we estimated the supply of dermatologists and general practitioners (GP) working in skin cancer medicine, service demand and need across Queensland in 2023. We built a supply-, demand- and needs-based health workforce model using publicly available data. We collated data on the numbers of clinicians and clinical full-time equivalents (FTE), Medicare-reported skin cancer services and melanoma incidence. We quantified health workforce supply and clinical workload, clinical FTE per 100,000 population, number of Medicare claims for skin cancer services per clinical FTE and incident cases of melanoma per clinical FTE for all of Queensland and across 19 Level 4 Statistical Areas. Queensland had 7179 GPs (852 adjusted FTE) and 124 (71 adjusted FTE) dermatologists servicing 5,527,369 residents, with an estimated 17 FTE skin cancer clinicians per 100,000 population. Ten (53%) SA4 areas had no dermatologists, with none residing in central or western Queensland. Seven of the nine SA4 levels with dermatologists were in southeast Queensland (78%), and 47% of all FTE dermatologists practised in Brisbane Inner City. GPs were well distributed relative to population size. Access to dermatology services is limited for Queensland residents living outside the southeast region, with few providers available within reasonable proximity. GPs are managing a growing skin cancer workload in Queensland. This could be eased by increased use of telemedicine, upskilling other health professionals in skin cancer medicine and improving care efficiency.

ABSTRACTThere have only been a limited number of case reports that have described vulval lichen sclerosus in patients receiving immune checkpoint inhibitor (ICI) therapy. We describe 11 cases of vulval lichen sclerosus in patients with melanoma treated with ICIs, and in nine of these cases, the lichen sclerosus symptoms began after ICI commencement. This represents the largest reported series to date and highlights the need for clinician awareness of this potential immune‐related adverse effect.

Epilepsy is a prevalent chronic neurological disorder marked by recurrent seizures, affecting over 70 million people worldwide. This review offers an up-to-date guide for general physicians, general practitioners and general neurology trainees on diagnosing and managing epilepsy, emphasising the importance of early referral to specialist teams. It discusses the epidemiology, significant societal burden and common comorbidities-including cognitive, psychiatric and cardiovascular conditions-which contribute to reduced quality of life and increased mortality, including sudden unexpected death in epilepsy. The article outlines a structured approach to first seizures and their mimics, emphasising the role of electroencephalographyand neuroimaging in diagnosis. Medical management centres on seizure control through anti-seizure medications (ASMs), but up to one-third of patients develop drug-resistant epilepsy, necessitating specialist interventions such as epilepsy surgery or neuromodulation. Accurate seizure classification and tailored treatment plans, including consideration of ASM teratogenicity in women of childbearing age, are essential. Case vignettes illustrate complex scenarios requiring specialist multidisciplinary evaluation. This review reinforces that timely specialist input can significantly enhance outcomes in patients with challenging or refractory epilepsy.

Role transition can be a challenging time for specialist medical trainees. Insight into the move from junior to senior registrar in Intensive Care is needed to help trainees prepare for this transition, and educators to support them. This study investigated the role transition experiences of Intensive Care senior registrars to identify the knowledge, skills and capabilities required of trainees to ensure a successful transition. Australasian College of Intensive Care Medicine trainees who had completed at least a year as a senior registrar were invited via email from the College to participate in a one-on-one interview. Seven trainees responded and all agreed to an interview. Interviews were transcribed, deidentified and analysed thematically. Three themes represented the seven male participants' experiences: Apprehension, Weight of responsibility and Decision-making. These themes illustrate that the experience of moving from junior to senior ICU registrar is complex, requires a shift in decision-making focus and is characterised by uncertainty. Communication skill development appeared to be key to the perspectives shared by our participants. Leadership development warrants more attention in Intensive Care Medicine. This study provides junior doctors at the cusp of transitioning to the role of Intensive Care senior registrars with helpful insights for their own transition. The findings are also helpful to Intensive Care Medicine more broadly and re-imagining what may be required for contemporary and sustainable trainee development.

BackgroundThe gut microbiome may influence breast cancer (BC) development by modulating estrogen metabolism, immune responses, and microbial metabolites. Altered microbial patterns have been reported in BC, but their value as predictive biomarkers remains uncertain.MethodsWe reviewed 13 case–control studies that compared gut microbiome composition in women with and without BC, focusing on diversity, compositional shifts, and geographic variation.ResultsReduced microbial richness (alpha diversity, the number and balance of bacterial species) was observed in more than half of the studies, although findings were not uniform. Differences in community composition (beta diversity) were common. Across studies, BC was consistently associated with elevated Bacteroides and reduced Faecalibacterium, a genus linked to anti-inflammatory effects. Other recurrent findings included enrichment of Eggerthella and Blautia in BC, though results for several taxa were inconsistent. Geographic variation was evident: Eggerthella was enriched in U.S. cohorts, Blautia in European cohorts, and in Chinese cohorts, Prevotella was elevated while Akkermansia was reduced.ConclusionsDespite heterogeneity, converging evidence supports reduced diversity and shifts in select taxa, particularly enrichment of Bacteroides and depletion of Faecalibacterium, as emerging features of the BC microbiome. Geographic differences underscore the influence of host and environmental factors. These findings suggest biomarker potential but highlight the need for larger, longitudinal, and standardized studies to establish causality and clinical utility.

Down syndrome (DS) is associated with an increased risk for an inflammatory arthritis termed Down syndrome-associated arthritis (DA). Clinical awareness of DA may prevent morbidity, but there is currently no consensus approach to screen for DA. A DS musculoskeletal (DS-MSK) screening tool was developed and piloted in clinics to identify inflammatory arthritis in individuals with DS. The prevalence of DA and the feasibility of the DS-MSK screening tool were also evaluated. Through a non-randomized, cross-sectional, multicenter study, patients with DS were enrolled by eight institutions that provide specialized comprehensive care to individuals with DS. A novel tool was developed to screen all patients for DA through DS-MSK history and DS-physical exam. Feasibility was assessed through the assessment of additional time the screening tool added to clinical visits. Of the 1111 participants with an average age of 10 years (SD 6.7), there were 1019 pediatric patients and 92 adult patients. There were 62 (6%) positive screens; of those, 21 (34%) were diagnosed with DA by a rheumatologist. Reports of joint swelling, redness, warmth, and stiffness were most associated with a diagnosis of DA. DA is an important consideration in the comprehensive care of individuals with DS. The condition can be aggressive and debilitating if misdiagnosed. We developed a simple, feasible DS-MSK screening tool that can identify DA. Future studies should focus on a shorter, less time-consuming tool that maintains positive predictive value for diagnosing DA that can easily be implemented into routine care for people with DS.