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

Area of Science:

• Nephrology
• Medical Genetics
• Genomic Medicine

Background:

• Genetic causes represent a significant portion of chronic kidney disease (CKD), ranging from 10-20% in adults and 30-50% in pediatric cases.
• Patients with genetic CKD face an elevated risk of kidney failure, yet current genetic testing options in Ontario are limited, covering fewer than 45 of over 500 implicated genes.
• Genetic testing is not systematically integrated into the diagnostic pathway for CKD, highlighting a need for standardized approaches and clear eligibility criteria.

Purpose of the Study:

• To develop standardized genetic testing criteria and evidence-based multigene panels for chronic kidney disease (CKD) in Ontario.
• To ensure equitable access to high-quality genetic services and improve clinical outcomes through early and accurate diagnoses.
• To address the gap between the growing evidence for genetic testing in CKD and its current limited integration into clinical practice.

Main Methods:

• An environmental scan of provincial, national, and international guidelines was conducted to inform the development of a testing framework.
• A literature review and expert consensus process were employed to establish eligibility criteria and define the content of multigene panels.
• Input was gathered from key stakeholders, including nephrologists, geneticists, genetic counsellors, and patients, throughout the development process.

Main Results:

• Standardized recommendations for genetic testing in CKD have been developed to promote consistent and equitable diagnostic access across Ontario.
• Multigene panels have been carefully curated to align with current knowledge of gene-disease associations and patient phenotypes, aiming to streamline testing.
• The framework facilitates earlier diagnosis and personalized management by strengthening collaboration between nephrology and genetics.

Conclusions:

• Standardized genetic testing recommendations are crucial for improving diagnosis, care, and outcomes in individuals with CKD.
• Well-curated multigene panels and integrated frameworks can streamline genetic testing and enhance clinical care pathways.
• This initiative supports earlier diagnosis, personalized management, and improved outcomes for patients with genetic forms of CKD.