WA Country Health Service

Congenital hearing loss affects about 1–2 in every 1000 babies born in Australia [1]. Around 50% of childhood hearing loss has an underlying genetic cause [2]. To date, over 500 causative genetic variants are known to be responsible for both syndromic and non-syndromic hearing loss [3]. Genomic testing has revolutionised clinicians' ability to provide accurate and timely diagnosis for individuals with hearing loss and their families. Australia is at the forefront of demonstrating exome sequencing's cost-effective value in informing prognosis, guiding management and clarifying the risk of recurrence in family members [4]. This piece of evidence was successfully used to initiate Medicare funding for exome sequencing in childhood hearing loss, available since 2023 with Medicare Benefits Schedule (MBS) items 73,440–73,444. Despite strong evidence of the benefit of genomic testing for these families, the combined uptake of these five MBS items—193 over 2 years—remains lower than the expected 180–200 per year and 3000 retrospectively eligible cases (Table 1). The available funding ($1200 for singleton test) is insufficient for laboratories to complete testing (as of December 2025: Victorian Clinical Genetics Services, $2195; Pathology Queensland, $2181), and testing processes are laboriously slow. In addition, there is limited access to genetic counselling, a vital service for families for adequate understanding and informed consent for testing. Genetics services often have long waitlists, inequitable and variable decisions about funded testing and a long wait for results. Consequently, most families are unable to realistically access genomic testing for hearing loss, and for those who can afford the test, the results may take several months. These delays mean that families might not receive results in time to inform reproductive decisions based on genetic risk or to plan early interventions for their infant, leaving them uninformed at a critical period. This situation reflects the broader challenge of MBS items in genomics (including paediatrics, renal, cardiac, neurology and cancer), whereby funding a test in isolation without considering staffing costs for laboratories, genetics services and patient perspectives has led to an implementation problem [7]. This frustrating gap and inequity in clinical care must be addressed. We must ensure there is adequate funding, resources and training for laboratories to complete genomic testing for hearing loss and other conditions, and increase access to genetic counselling through training, funding and recognition of the profession's invaluable work. Most of all, we owe affected families equitable access to the opportunity for genomic testing to provide better, personalised and informed care. Emma McGonigal: writing – original draft and writing – review and editing. Andrew White: conceptualisation, supervision and writing – review and editing. Valerie Sung: supervision and writing – review and editing. Karen Liddle, Lilian Downie and Emily Shepard: writing – review and editing. The authors have nothing to report. Emma McGonigal is a volunteer advocate for the Usher Syndrome Coalition; she receives no financial remuneration for this role. The authors have nothing to report.

To describe 5-year outcomes of chronic kidney disease (CKD) in a large, population-based cohort in Western Australia, including rates of progression, regression, kidney failure and death. CKD is a major public health challenge associated with increased morbidity and mortality, yet the natural history of early-stage disease in population settings remains poorly defined. We conducted a retrospective cohort study using linked pathology and hospital data for adults with incident CKD between 2006 and 2022. CKD stage was defined by two estimated glomerular filtration rate (eGFR) values ≥ 3 and < 12 months apart: mild (45-59), moderate (30-44) and severe (15-29) mL/min/1.73 m2. Outcomes were assessed over 5 years using a competing risks framework. Among 153 527 individuals with incident CKD during the study period (mean age 75.6 years, 52.6% women) 118 248 had mild, 58 323 moderate and 20 322 severe CKD. At 5 years, death occurred in 16.8% (mild), 26.7% (moderate) and 30.5% (severe); kidney failure occurred in 0.6%, 2.5% and 30.0%, respectively. CKD progression was more common than regression in mild (20.1% vs. 11.8%) and moderate (18.9% vs. 14.5%) disease. Albuminuria testing was recorded in < 35% of patients. People with early-stage CKD face substantial risks of progression, kidney failure and death within 5 years. The low rate of albuminuria testing suggests missed opportunities for early identification of high-risk individuals and timely intervention. Enhancing CKD detection and monitoring in primary care may improve outcomes.

Immune checkpoint inhibitor immunotherapy enhances T cell activity against cancer cells but often leads to the immune system targeting healthy cells, causing 'immune-related adverse events' (irAEs). We report the case of a man in his 70s with metastatic melanoma being treated with ipilimumab and nivolumab. He presented with febrile neutropenia after lacerating a thumb on his compost bin. The neutrophil count only recovered once oral prednisolone was commenced, indicating a haematological irAE. A restaging Positron Emission Tomography scan revealed intramuscular ring-enhancing collections throughout his body, one of which was aspirated and cultured the fungus Lomentospora prolificans He was treated with voriconazole plus terbinafine, both of which were later substituted with olorofim due to a voriconazole-induced rash. After 4 months, the collections had resolved on repeat imaging, and olorofim was ceased due to transaminitis. This case highlights neutropenia as a lesser-known adverse effect of immunotherapy and raises awareness about L. prolificans infection.

BackgroundNecrotizing fasciitis (NF) is a rapidly progressive, life-threatening infection with significant morbidity and mortality. Rural and remote regions face unique challenges in the timely diagnosis and management of NF.MethodologyThis retrospective study included all patients diagnosed with NF in the Kimberley region, Western Australia, between June 2020 and June 2025. Data were extracted from medical and surgical records, microbiology databases, and theater logs. Demographic, clinical, microbiological, and outcome variables were analyzed descriptively.ResultsIn total, 21 patients were identified during the five-year period. The estimated incidence rate was 12 per 100,000 population. The median age was 49 years (interquartile range = 37-56); 8 (38%) were males, and 13 (62%) were females. Overall, 16 (76%) identified as Aboriginal and/or Torres Strait Islander. Diabetes (76%, 16), obesity (86%, 18), and smoking (62%, 13) were common. The most frequent site of infection was the lower limb, accounting for 52% (11) of cases, followed by the gluteal or buttock in 24% (5). All patients underwent operative management, and 9% (2) of patients died in the hospital.ConclusionsThe incidence of NF in the Kimberley is higher than the national and international average. This presents unique diagnostic and management challenges due to geographic remoteness, workforce shortages, and comorbidity burden. This study contributes valuable insights into the regional epidemiology and the management of NF in rural settings.

This study explored whether digital health content was included in current higher education curriculum, barriers and enablers to inclusion, key skills required and university educators' confidence in delivering content in undergraduate and postgraduate health courses in Western Australia. A three-stage design included: 1) desktop audit of course (n = 117) and unit (n = 1559) descriptors for digital health-related keywords; 2) semi-structured interviews with university educators (n = 15); and 3) online survey of final year students (n = 14). Health, allied health, medicine, nursing and midwifery disciplines at five universities were included. The audit identified limited digital health-related keywords. Interviews identified unsystematic application of digital health content across disciplines. Five themes for digital health curriculum were identified; only one required discipline-specific content. Despite low responses, students supported a need for additional training opportunities to support digital health skill implementation in practice. Comprehensive and ongoing digital health curricula and practice opportunities are needed for undergraduate and postgraduate health workers. Consideration should be given to the skills of university educators and clinical supervisors regarding their own confidence in delivering digital health teaching and practice opportunities for students. A universal approach, supplemented by discipline-specific content, may create efficiencies in curriculum development and support a common language and understanding across professions.

BackgroundRheumatic heart disease (RHD) is highly prevalent and under-detected in remote First Nations Australian communities. Rural communities face severe health workforce shortages that impact negatively on health outcomes. Task-sharing using local healthcare workers, trained to screen for active RHD cases (using handheld ultrasound with remote support from experts), has been proposed as a means of improving early detection whilst also strengthening referral pathways. Implementing new models of care within remote communities, however, requires local knowledge, cultural and operational adaptation, whilst ensuring consistency and quality assurance across multiple sites. This study aimed to co-design local implementation strategies for an RHD active case finding program with five remote communities and explain how and why the task-sharing program might lead to improved health outcomes.MethodsA qualitative study using a Theory of Change approach and ‘yarning’ methods, was conducted with five remote First Nations Australian communities. We used a combination of participant observation, extensive field notes over sequential visits to each site, supplemented with document analysis to inform co-design of Theories of Change for each community. Data were curated using NVivo software and analysed using Powell’s refined compilation of implementation strategies framework.ResultsThrough the co-design process, a total of 24 locally tailored implementation strategies were identified. All sites identified the need for a positive implementation environment, including recognition of local healthcare workers through positive messaging and celebratory events for achieving key training milestones. Other key themes included the importance of opportunistic RHD screening, and the integration of local languages during both training and screening. Five locally adapted versions of the Theory of Change were co-designed to include planned outcomes, assumptions, causal mechanisms, and indicators for the program at each community.ConclusionsOur study identified implementation strategies and Theories of Change for the training and screening aspects of a new model of care for RHD screening in five remote First Nation Australian communities. These findings will be used to support future program evaluation and exploration the mechanisms by which the RHD screening program achieves its outcomes.

Transthoracic echocardiography (TTE) is essential in the diagnosis of cardiovascular diseases (CVD), including but not limited to heart failure (HF) and heart valve disease (HVD). However, its dependence on expert acquisition means that its accessibility in rural areas may be limited, leading to delayed management decisions and potential missed diagnoses. Artificial intelligence-guided (AI)-TTE offers a solution by permitting non-expert image acquisition. The impact of AI-TTE on the timing of diagnosis and early initiation of cardioprotection is undefined. AGILE-Echo (use of Artificial intelligence-Guided echocardiography to assIst cardiovascuLar patient managEment) is a randomized-controlled trial conducted in 5 rural and remote areas around Australia. Adults with CV risk factors and exercise intolerance, or concerns regarding HVD are randomized into AI-TTE or usual care (UC). AI-TTE participants may have a cardiovascular problem excluded, identified (leading to AI-guided interventions) or unresolved (leading to conventional TTE). UC participants undergo usual management, including referral for standard TTE. The primary endpoint is a composite of HVD or HF diagnosis at 12-months. Subgroup analysis, stratified based on age range and sex, will be conducted. All statistical analyses will be conducted using R. Of the first 157 participants, 78 have been randomized into AI-TTE (median age 68 [IQR 17]) and 79 to UC (median age 65 [IQR 17], P = .034). HVD was the primary concern in 37 participants (23.6%) while 84.7% (n = 133) experienced exercise intolerance. The overall 10-year HF incidence risk was 13.4% and 20.0% (P = .089) for UC and AI-TTE arm respectively. Atrial remodeling, left ventricular remodeling and valvular regurgitation were the most common findings. Thirty-three patients (42.3%) showed no abnormalities. This randomized-controlled trial of AI-TTE will provide proof-of-concept for the role of AI-TTE in identifying pre-symptomatic HF or HVD when access to TTE is limited. Additionally, this could promote the usage of AI-TTE in rural or remote areas, ultimately improving health and quality of life of community dwelling adults with risks, signs or symptoms of cardiac dysfunction.