Brendan Cusack

Key Points: We evaluated a hub and spoke mainstreaming model to enable nephrologists to order genomic tests independently in their clinic across the state of Victoria. Over 1000 tests were ordered, with the diagnostic yield remaining similar regardless of ordered by local nephrologists or tertiary genomics services. A mainstreaming model proved feasible, scalable, and clinically effective, offering a practical framework for integrating genomics to routine kidney care. Background: Genomic testing has substantial diagnostic and clinical value in nephrology, yet integrating testing into routine care requires service-level changes to ensure timely and equitable access. Methods: We conducted an observational cohort study at four tertiary centers, with a pragmatic, quasi-experimental design to evaluate evidence-informed, service-level interventions to make genomic testing more accessible and routinely embedded within nephrology practice. We implemented a hub and spoke model which provided nephrologists with training, practical resources, and regular case-based discussions, to support test ordering and interpretation within their own clinics. Laboratory audits (June 2021–July 2024) evaluated how public reimbursement and implementation interventions influenced testing patterns. Three periods were compared: prefunding, postfunding, and postintervention. Results: Across the study period, 1028 genomic tests were ordered (63% adults, 37% children; median age 32 years). Results were available for 1014 tests, with an overall diagnostic yield of 34%, which remained stable across all time points. The diagnostic yield was similar regardless of whether testing occurred at tertiary genomics services (249 of 772, 32%) or via local nephrologists (92 of 242, 38%). The number of unique providers ordering tests was higher (T1: 37, T2: 69, T3: 87). The proportion of testing in mainstream nephrology settings rose from 23% to 74%, while absolute testing numbers in multidisciplinary clinics remained consistent over the study period. Conclusion: Mainstreaming genomic testing in nephrology was feasible, scalable, and clinically effective. This model was associated with better access without compromising diagnostic yield and provides a practical framework for integrating genomic medicine into routine kidney care.

Modern apheresis devices, with increased procedural precision, automation, and monitoring, have been shown to allow for safe delivery of apheresis therapies in young children. Medical advances are increasing demand for apheresis procedures like mononuclear cell collection in infants <10 kg, including stem‐cell supported chemotherapy, cell collection for chimeric antigen receptor T cell development, and now ex vivo gene therapies for rare genetic diseases. Nevertheless, safe delivery in small infants involves a range of unique considerations and challenges, beyond just size, and experience will vary between centers. In this case report we describe our experience performing mononuclear cell collection in our smallest patient to date and outline a practice guideline developed following a literature review and discussion with both international experts and device representatives. This case may help to inform other clinicians aiming to provide apheresis care to very small infants in their own centers.