Utility of Genetic Testing in Kidney Transplant Evaluation
1Willis Knighton Physician's Network, John C. McDonald Regional Transplant Center, Shreveport, LA, 2Arkansas College of Osteopathic Medicine, Fort Smith, AR, 3Natera, Inc., Austin, TX
Meeting: 2022 American Transplant Congress
Abstract number: 1424
Keywords: Gene polymorphism, Kidney, 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: Genetic testing is an emerging tool in pre-kidney transplant (KT) evaluations for individuals with end-stage renal disease (ESRD). A known genetic etiology can inform the risk of disease recurrence, guide transplant management, and enable evaluation of living related donors. Despite these benefits, there is a paucity of literature describing the use of diagnostic genetic testing as part of the pre-KT evaluation. Here we describe the initial experience incorporating a broad renal genetic testing panel for KT candidates in one Louisiana center.
*Methods: A retrospective review was conducted on 31 patients that underwent a KT evaluation in April 2021 with the RenasightTM panel, a NGS-based 382 or 385 gene kidney panel test. The patients were primarily female (20/31), African American (16/31), and <50 years of age (17/31). The primary clinical causes of CKD were hypertension (HTN) and/or diabetes (20/31).
*Results: Positive findings were identified in 32.3% (10/31) of patients in the APOL1, CFI, COL4A4, and PKD2 genes. Additionally, 29.0% (9/31) of the patients were identified as heterozygous carriers of autosomal recessive conditions. Of the positive cases, 60% (6/10) were either homozygous or compound heterozygous for the G1 and G2 risk alleles in the APOL1 gene. One individual, heterozygous for a likely pathogenic variant (c.57+1G>C) in the CFI gene, associated with atypical hemolytic uremic syndrome, along with biopsy-proven thrombotic microangiopathy was tested for complement proteins in plasma. Due to the potential increased risk of recurrence, simultaneous liver-kidney transplant and Eculizumab was considered.
*Conclusions: In this initial experience, kidney genetic testing was an informative tool resulting in a change in patient management. The genetic testing yield in this cohort is likely enriched as many of these patients had a positive family history of kidney disease, significant proteinuria, or ESRD attributed to HTN. Genetic testing in pre-KT patients has potential clinical impact on post-KT management and selection of living-related donors. Further research is needed to describe the utility of genetic testing for kidney transplant candidates.
To cite this abstract in AMA style:
Singh N, Palermini A, Qamar A, Naseer MS, Shokouh-Amiri H, Zibari G, Aultman D, Beretich L, Luksic D, Gibson J, McCormick S, Tabriziani H, Billings P. Utility of Genetic Testing in Kidney Transplant Evaluation [abstract]. Am J Transplant. 2022; 22 (suppl 3). https://atcmeetingabstracts.com/abstract/utility-of-genetic-testing-in-kidney-transplant-evaluation/. Accessed May 23, 2025.« Back to 2022 American Transplant Congress