Kidney Week 2025 Early Program - Genetics in Clinical Nephrology-The Art and Science of Genetic Counseling in Nephrology

The Art and Science of Genetic Counseling in Nephrology

Pdf Summary

Genetic testing is becoming a core part of nephrology because up to about 10% of people with chronic kidney disease can receive a genetic diagnosis that would otherwise be missed. This review explains how genetic counselors and nephrologists can collaborate to deliver effective “genomic services,” including deciding who should be tested, preparing patients for testing, interpreting results, and integrating findings into care.<br /><br />The authors outline key “red flags” that increase the likelihood of a genetic cause: early onset kidney disease (often <50 years without typical risk factors), rapid or unusually severe progression, syndromic or extra-renal features (e.g., hearing/eye findings in Alport syndrome), a positive family history, certain kidney disease categories with higher genetic yield (e.g., cystic disease, FSGS, CKD of unknown cause), and suggestive biopsy or electrolyte patterns (e.g., Fabry disease, Gitelman syndrome).<br /><br />Pretest genetic counseling includes collecting detailed personal and three-generation family histories, estimating the probability of a genetic etiology, selecting an appropriate test while considering technical limits (e.g., PKD1, MUC1), discussing costs/insurance, and obtaining informed consent. Consent should cover possible results (positive, negative, variant of uncertain significance [VUS], incidental/secondary findings), how results may affect medical management and family members, and genetic discrimination protections (e.g., GINA in the US). Pediatric testing also requires age-appropriate assent and attention to autonomy.<br /><br />Post-test counseling focuses on explaining reports and variant classification, distinguishing diagnostic vs incidental/secondary findings, handling VUS (which should not guide management but may be reclassified via phenotype correlation, family segregation, or functional studies), and addressing negative results by reassessing clinical suspicion and test sensitivity. Genetic counselors also provide psychosocial support and help with cascade testing, family communication, referrals, surveillance, reproductive planning, and trial eligibility. Integrating genetic counseling into nephrology enables more personalized, comprehensive kidney care.

Keywords

genetic testing in nephrology

chronic kidney disease genetic diagnosis

genomic services collaboration

genetic counseling pretest and posttest

red flags for genetic kidney disease

Alport syndrome hearing and eye findings

FSGS genetic causes

cystic kidney disease gene panels

variant of uncertain significance VUS management

cascade testing and family screening