Kidney Week 2025 Annual Meeting-Genetic Testing in the Nephrology Clinic

Video Transcription

Video Summary

This clinical practice session, “Genetic Testing in the Nephrology Clinic,” introduces how increasingly доступible kidney gene panels are reshaping diagnosis and management across transplant, hypertension, stone disease, and idiopathic CKD clinics.<br /><br />In the transplant setting, genetic testing helps clarify diagnoses, guide management of syndromic/extra-renal disorders, and—critically—estimate recurrence risk (especially for FSGS) and evaluate related living donors. Genetic forms of FSGS rarely recur post-transplant, unlike primary FSGS. The talk highlights APOL1 in donors of African ancestry: two high-risk variants are linked to substantially higher long-term CKD/ESRD risk after donation and slightly worse deceased-donor graft survival. The speaker argues APOL1 should be treated like other medical risk tests and supports routine testing of young African-ancestry living donors, recommending against donation with high-risk genotypes.<br /><br />The pharmacogenomics talk reviews gene–drug pairs that may improve antihypertensive selection and safety. NAT2 genotype strongly affects hydralazine exposure and lupus risk; new guidance supports lower dosing/avoidance in poor metabolizers. CYP2D6 affects metoprolol levels (risk of bradycardia but stronger effect), while CYP2C9 affects losartan activation (poor metabolizers may respond less). Tacrolimus (CYP3A5) is presented as a successful implementation model with good reimbursement and clinical decision support.<br /><br />For kidney stones, current commercial panel yield is often low unless phenotypes suggest monogenic disease (early onset, nephrocalcinosis, frequent stones, CKD, specific urine abnormalities). Cases illustrate actionable diagnoses (e.g., SLC34A3-related phosphate wasting; distal RTA due to SLC4A1).<br /><br />Finally, genetic testing in unexplained (“CKD-X”) CKD can identify causes in ~17–25% (notably Alport, nephronophthisis, ADTKD). The speaker emphasizes benefits (therapy guidance, avoiding immunosuppression, transplant planning) alongside pitfalls such as unexpected findings and the need for careful counseling and genetic counselor support.

Asset Subtitle

Moderator(s): Denver Brown, Alan Pao

Presentation(s):

Genetic Testing in the Transplant Clinic - Gabriel Danovitch
Pharmacogenomics of Antihypertensive Therapy - Michael Eadon
Genetic Testing in Kidney Stone Formers - Neera Dahl
Genetic Testing in Idiopathic CKD: Successes and Pitfalls - Whitney Besse

Meta Tag

Date 11/7/2025

Pathway 1 CKD Non-Dialysis

Pathway 2 Genetic Diseases and Development

Session ID 507770

Keywords

genetic testing

nephrology clinic

kidney gene panels

kidney transplant

FSGS recurrence risk

APOL1 high-risk variants

living donor evaluation

pharmacogenomics

NAT2 hydralazine lupus risk

CYP2D6 metoprolol bradycardia

CYP3A5 tacrolimus dosing

CKD-X unexplained chronic kidney disease