Kushani Jayasinghe, Rigan Tytherleigh, Stephanie Best, Simon Bodek, Paula Bussa, Grainne Butler, Ainsley Campbell, Amy Clarke, Brendan Cusack, Elizabeth Donaldson, Yoni Elbaum, Clara Gaff, Russell Gear, Asheeta Gupta, Paul James, Lilian Johnstone, Peter G Kerr, Emma Krzesinski, Anna Leaver, Benjamin Lazarus, Mandy Law, Po Yee Mia Leung, Sebastian Lunke, Melissa Martyn, Briannah Miles, Kathleen Nicholls, Lokman Pang, Matthew Regan, Jessica Ryan, Judy Savige, Bryony Thompson, Alison Trainer, Giulia Valente, Kathryn Visser, Andrea Ward, Jack Wheeler, John Whitlam, Ella J Wilkins, Ingrid Winship, Kenneth Xie, Zornitza Stark, Catherine Quinlan
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.
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.