Scaling up Genomics: A Mainstream Model of Care in Nephrology.

This pragmatic, quasi-experimental observational cohort study across four tertiary centres evaluated service-level interventions designed to embed genomic test ordering in routine nephrology practice. The 'hub and spoke' model gave nephrologists training, practical resources and regular case-based discussions so that they could order and interpret tests within their own clinics. Between June 2021 and July 2024, 1,028 genomic tests were ordered (63% adults, 37% children; median age 32 years), with results available for 1,014 and an overall diagnostic yield of 34% that remained stable across all timepoints. Yield was similar whether testing went through tertiary genomics services (249/772, 32%) or local nephrologists (92/242, 38%). Testing in mainstream nephrology settings rose from 23% to 74% of tests, and the number of distinct ordering providers grew from 37 to 87.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The useful result is an absence of difference: handing ordering to trained nephrologists does not erode diagnostic yield, which argues for this kind of organisation wherever genetics clinics are saturated. The quasi-experimental design, with no concurrent control group, cannot separate the effect of the interventions from that of the public reimbursement introduced over the same period. Data on the quality of the information and genetic counselling provided, and on how variants of uncertain significance are handled outside expert centres, are also missing.

Analysis by Dr Thibaut Benquey