Scaling up Genomics

Résumé fourni par la source

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.

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