Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.

ABSTRACT:

Introduction

Diagnostic genomic sequencing is the emerging standard of care in nephrology. There is a growing need to scale up the implementation of genomic diagnostics nationally to improve patient outcomes.

Methods

This pragmatic study provided genomic or genetic testing to patients with suspected monogenic kidney disease through a national network of kidney genetics clinics (KGCs). We sought to evaluate the experiences of implementing genomic diagnostics across Australia and associated diagnostic outcomes between 2013 and 2022.

Results

We successfully established and expanded a nationwide network of 20 clinics as of 2022; concurrently developing laboratory, research, and education programs to scale the clinical application of genomics in nephrology. We report on an

SUBMITTER: Jayasinghe K 

PROVIDER: S-EPMC11328548 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature