Scaling up Genomics: A Mainstream Model of Care in Nephrology
- Author(s)
- Jayasinghe, K; Tytherleigh, R; Best, S; Bodek, S; Bussa, P; Butler, G; Campbell, A; Clarke, A; Cusack, B; Donaldson, E; Elbaum, Y; Gaff, C; Gear, R; Gupta, A; James, P; Johnstone, L; Kerr, PG; Krzesinski, E; Leaver, A; Lazarus, B; Law, M; Leung, PYM; Lunke, S; Martyn, M; Miles, B; Nicholls, K; Pang, L; Regan, M; Ryan, J; Savige, J; Thompson, B; Trainer, A; Valente, G; Visser, K; Ward, A; Wheeler, J; Whitlam, J; Wilkins, EJ; Winship, I; Xie, K; Stark, Z; Quinlan, C;
- Journal Title
- Clinical Journal of the American Society of Nephrology
- Publication Type
- Online publication before print
- Abstract
- INTRODUCTION: 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 centres, 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: pre-funding, post-funding and post-intervention. RESULTS: Across the study period, 1,028 genomic tests were ordered (63% adults, 37% children; median age 32 years). Results were available for 1,014 tests, with an overall diagnostic yield of 34%, which remained stable across all timepoints. The diagnostic yield was similar regardless of whether testing occurred at tertiary genomics services (249 out of 772, 32%) or via local nephrologists (92 out of 242, 38%). The number of unique providers ordering tests were 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.
- Department(s)
- Familial Cancer Centre
- Publisher's Version
- https://doi.org/10.2215/cjn.0000001184
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2026-09-16 04:43:30
Last Modified: 2026-09-16 04:43:41