Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group

Area of Science:

• Nephrology
• Medical Genetics
• Genomic Medicine

Background:

• Chronic kidney disease (CKD) affects 37 million Americans, with genetic factors explaining a significant portion of cases in both adults and children.
• Genetic testing in nephrology has not kept pace with advancements in other medical fields, highlighting a need for improved understanding and implementation.
• A substantial percentage of CKD cases, particularly in children, are attributed to genetic causes, underscoring the importance of genetic diagnostics.

Purpose of the Study:

• To develop recommendations for genetic testing in monogenic kidney disorders.
• To identify genetic risk factors contributing to oligogenic and polygenic kidney diseases.
• To create a roadmap for advancing the use of genetic testing in nephrology.

Main Methods:

• Convening a multidisciplinary Working Group of experts in genetics and nephrology.
• Utilizing a modified Delphi process to achieve consensus on recommendations.
• Developing clinical decision-making algorithms for genetic testing in kidney diseases.

Main Results:

• Generated evidence-based recommendations for genetic testing in various kidney diseases.
• Identified key genetic risk factors for monogenic, oligogenic, and polygenic kidney disorders.
• Created a strategic roadmap to facilitate the integration of genetic testing into nephrology practice.

Conclusions:

• The developed recommendations and resources aim to support nephrologists and healthcare professionals in utilizing genetic testing for CKD diagnosis and screening.
• Advancing genetic testing in nephrology is crucial for improving the diagnosis, management, and understanding of kidney diseases.
• Increased implementation of genetic testing can lead to more personalized and effective care for patients with chronic kidney disease.