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Implementing Genetic Testing in the Evaluation of the Kidney Transplant Candidate

F. Abu Al Rub1, Y. Caliskan2, H. Randall2, B. Bastani2, V. Fleetwood3, M. Nazzal2, C. Varma2, K. Lentine2

1St. Louis University, St Louis, MO, 2St. Louis University, St. Louis, MO, 3Department of Transplantation, St. Louis University, St. Louis, MO

Meeting: 2022 American Transplant Congress

Abstract number: 1416

Keywords: Genomics, Kidney transplantation

Topic: Clinical Science » Kidney » 49 - Recurrent Kidney Disease & Genetics

Session Information

Session Name: Recurrent Kidney Disease & Genetics

Session Type: Poster Abstract

Date: Monday, June 6, 2022

Session Time: 7:00pm-8:00pm

 Presentation Time: 7:00pm-8:00pm

Location: Hynes Halls C & D

*Purpose: To describe the incorporation of a genetic renal panel to improve the characterization of end stage kidney disease (ESKD) etiology in the kidney transplant (KTx) evaluation process at one Midwestern transplant program.

*Methods: In December 2020, our center initiated a protocol for use of next-generation sequencing panel including 325 genes in select KTx candidates. The goals of the testing strategy are: informing native disease recurrent risk and guiding testing of related living donor candidates. Indications for the panel included ESKD of unclear etiology including “hypertension” in patients younger than age 50 who had not undergone kidney biopsy, having at least one first degree relative with ESKD, focal segmental glomerulosclerosis (FSGS), or atypical hemolytic uremic syndrome. Patients with cystic kidney disease on ultrasound were tested if they are not known to have autosomal dominant polycystic kidney disease.

*Results: From 12/2020 -11/2021, 35 KTx candidates were tested. The median age at ESKD onset was 49 (27-64) years. None of our KTx candidates has objected to being tested. The majority of patients were African-American (AA) (54.3%). Causal and risk variants were found in 13/35 (37.1%). The most common variant was APOL-1 two renal risk-variants (2-RRV) (7/13, 53.8%) followed by UMOD variants (2/13, 15.4%), (Table 1). Strong family history of ESKD had the highest positive test predictive value (66%) followed by history of FSGS (57%) and history of cystic kidney disease (50%). Genetic testing resulted in a change of ESKD etiology diagnosis in six patients (17.1%); two of them (5.7%) were found to have mutations that could affect non-kidney organs, requiring further non-transplant related surveillance and care. Among 18 AA patients in the cohort, 7/18 (38.8 %) had 2 APOL1 RRV and 7/18 (38.8 %) had 1 APOL1 RRV. 3 of the 7 (42.8%) patients with 2 APOL1 RRV patients had been diagnosed previously with FSGS. To date, 4 donor candidates underwent testing after recipient evaluation. 3 were tested using monogenic testing for APOL1 and one patient was tested using the genetic renal panel. 3 have donated successfully.

*Conclusions: Genetic testing is a valuable tool in the assessment of KTx recipient candidates, and the use of testing can change the care plan. A multicenter prospective study is suggested to evaluate the impact of testing on both donor and recipient candidates.

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To cite this abstract in AMA style:

Rub FAbuAl, Caliskan Y, Randall H, Bastani B, Fleetwood V, Nazzal M, Varma C, Lentine K. Implementing Genetic Testing in the Evaluation of the Kidney Transplant Candidate [abstract]. Am J Transplant. 2022; 22 (suppl 3). https://atcmeetingabstracts.com/abstract/implementing-genetic-testing-in-the-evaluation-of-the-kidney-transplant-candidate/. Accessed May 30, 2025.

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