Genetic Testing in Chronic Kidney Disease Management
Summary
Chronic kidney disease (CKD) affects around 10% of the global population and exhibits considerable heterogeneity in aetiology, progression and response to therapy. Genetic testing—ranging from targeted gene panels to whole-exome sequencing—has emerged as a pivotal tool to delineate monogenic kidney disorders, reveal risk alleles such as APOL1 variants, and uncover novel pathogenic mechanisms. By refining diagnosis, genetic profiling enables precise prognostic stratification, family counselling and personalised treatment pathways, including early referral for transplantation or enrolment in gene-based clinical trials. Implementation within multidisciplinary nephrology and genetics clinics has fostered streamlined workflows for variant interpretation and phenotypic correlation. Despite challenges in cost, accessibility and interpretation of variants of uncertain significance, integration of genomic data into routine practice is reshaping CKD management towards a more individualised paradigm.
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Genetic Testing in Chronic Kidney Disease Management publication trend
The graph below shows the total number of articles in genetic testing in chronic kidney disease management across all publications each year (not limited to Nature Index journals).
Technical terms
Estimated glomerular filtration rate (eGFR): A calculated measure of kidney function, estimating the rate at which blood is filtered through the glomeruli, expressed in millilitres per minute per 1.73 m².
Monogenic disorder: A disease caused by pathogenic variants in a single gene, often following clear Mendelian inheritance patterns.
APOL1 risk genotype: Specific variants in the APOL1 gene that confer increased susceptibility to certain kidney diseases, particularly among individuals of African descent.
Next-generation sequencing (NGS): High-throughput DNA sequencing technologies enabling rapid and cost-effective analysis of large genomic regions.
Gene panel: A targeted sequencing assay that examines a predefined set of disease-associated genes to identify pathogenic variants.
References
- Increased risk of kidney failure in patients with genetic kidney disorders. Journal of Clinical Investigation (2024).
- The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease. Journal of the American Society of Nephrology (2023).
- Genetic Testing for Chronic Kidney Diseases: Clinical Utility and Barriers Perceived by Nephrologists. Kidney Medicine (2021).
- The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project. Journal of Nephrology (2022).
- Genomics in the renal clinic - translating nephrogenetics for clinical practice. Human Genomics (2015).
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