Genes, kidneys, and the future: transforming chronic kidney disease management through genomic insights
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Chronic kidney disease (CKD) affects over 800 million individuals globally and demonstrates significant genetic diversity. Advances in next-generation sequencing have identified over 600 genes associated with inherited kidney disorders, with monogenic variants accounting for 10% to 20% of adult and up to 50% of pediatric CKD cases. Genetic diagnostics, including gene panels, whole-exome sequencing, and whole-genome sequencing, improve diagnostic accuracy, enhance prognostication, and support personalized care. These tools apply to inherited nephropathies such as autosomal dominant polycystic kidney disease, Alport syndrome, congenital anomalies of the kidney and urinary tract, autosomal dominant tubulointerstitial kidney disease, and monogenic nephrotic syndromes. Beyond monogenic disorders, polygenic influences have emerged through genome-wide association studies, but their clinical utility remains to be fully established. Genetic insights not only support diagnosis but also guide treatment strategies, facilitate familial risk assessment, and can eliminate the need for invasive procedures like renal biopsy. Nevertheless, challenges remain, including the interpretation of variants of uncertain significance, limited understanding of genetics among clinicians, and inadequate access to genetic counseling. Despite these obstacles, genetic testing remains essential for deepening our understanding of CKD mechanisms and advancing a personalized approach in nephrology.
Abstract
Chronic kidney disease (CKD) affects over 800 million individuals globally and demonstrates significant genetic diversity. Advances in next-generation sequencing have identified over 600 genes associated with inherited kidney disorders, with monogenic variants accounting for 10% to 20% of adult and up to 50% of pediatric CKD cases. Genetic diagnostics, including gene panels, whole-exome sequencing, and whole-genome sequencing, improve diagnostic accuracy, enhance prognostication, and support personalized care. These tools apply to inherited nephropathies such as autosomal dominant polycystic kidney disease, Alport syndrome, congenital anomalies of the kidney and urinary tract, autosomal dominant tubulointerstitial kidney disease, and monogenic nephrotic syndromes. Beyond monogenic disorders, polygenic influences have emerged through genome-wide association studies, but their clinical utility remains to be fully established. Genetic insights not only support diagnosis but also guide treatment strategies, facilitate familial risk assessment, and can eliminate the need for invasive procedures like renal biopsy. Nevertheless, challenges remain, including the interpretation of variants of uncertain significance, limited understanding of genetics among clinicians, and inadequate access to genetic counseling. Despite these obstacles, genetic testing remains essential for deepening our understanding of CKD mechanisms and advancing a personalized approach in nephrology.