Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario

Genetic causes account for 10% to 20% of adult and 30% to 50% of pediatric chronic kidney disease (CKD). Patients with genetic CKD have a higher risk of progression to kidney failure. More than 500 genes are implicated in kidney disease; yet, Ontario's existing gene panel options includes fewer than 45 genes. Despite growing evidence for genetic testing in CKD care, testing is not systematically integrated into the diagnostic pathway. Standardized testing and clear eligibility criteria are needed to improve diagnosis, care, and outcomes.

In 2023, Ontario Health's Provincial Genetics Program convened a Renal Genetics Expert Group to develop standardized genetic testing criteria and evidence-based multigene panels for CKD. This initiative aims to support equitable access to high-quality genetic services and improve clinical outcomes through early, accurate diagnoses.

An environmental scan of provincial, national, and international guidelines informed the development of a testing framework. Literature review and expert consensus guided the creation of eligibility criteria and panel content. Input from nephrologists, geneticists, genetic counsellors, and patients was incorporated throughout the process.

Standardized recommendations for genetic testing in CKD promote consistent, equitable access to diagnostics across Ontario. Careful curation of multigene panels that align with current knowledge of gene-disease associations and patient phenotypes, can help streamline testing. Integration of this framework into clinical care will strengthen collaboration between nephrology and genetics, facilitate earlier diagnosis, and support personalized management, ultimately improving outcomes for individuals with CKD.