Session Name: Biomarkers, Immune Assessment and Clinical Outcomes
Session Date & Time: None. Available on demand.
*Purpose: Renasight™(Natera), a recently available genetic test provides analysis on 382 genes associated with adult-onset kidney disease, covering clinical categories (cystic, tubular, glomerular, complement-related, congenital disorders,and nephrolithiasis).The purpose of our study was to perform genetic testing on ESRD patients in the transplant setting- to diagnose, confirm or reclassify the etiology of ESRD and to determine if the testing impacted management.
*Methods: Renasight testing has been used at our center in the pre and post-transplant settings since spring 2020. Following were the criteria used to test individuals for Renasight: Family history of ESRD, atypical presentations of ESRD, young individuals with ESRD of unclear etiology.
*Results: 50 patients have been tested, 32 resulted and 18 still pending. 17/32 (53%) had some genes identified during testing while 15/32(46 %) had none. 8/17 were identified as positive ; 1 Alport’s syndrome with ADMATS 13 mutation, 2 Alport’s,1 PKD with Jouberts, Bardet BIedel, Meckel, Senior Loken syndrome, 1 with HNF 4A with Fanconi’s syndrome, MODY Type1, Apol1, 1 renal agenesis/RET, 1 with 2 with ApoL 1. 9/18 patients had variants of unknown significance genes (VUS) including NPHS2 Nephrotic Syndrome, Type 2 /Short-Rib Thoracic Dysplasia Complement Factor I Deficiency, Familial Mediterranean Fever, PRODH Hyperprolinemia Type 1, Cystinosis. Genetic testing altered management as follows; 3 with Col4 A gene abnormalities were referred to other specialists, testing of anti GBM ab and informing family members who had donated in the past. 1 patient is being observed for complement activation conditions, 1 patient is being worked up for hylerprolinenia 1 for cystinosis. 1with RET gene abnormality is being worked up for MEN2 syndrome, 1 for amyloid, 1 with pre transplant MODY type 1 variant for Diabetes.
*Conclusions: Renasight testing in the kidney transplant setting can confirm or identify the pre transplant diagnosis of ESRD when etiology is unclear or biopsies are unavailable, initiate appropriate referrals and facilitate appropriate therapeutic interventions . It can also facilitates early diagnosis of familial conditions,allowing families to intervene early and be better educated on organ donation. Renasight testing influenced diagnosis and management in our study Prospective data is being collected.
To cite this abstract in AMA style:Qazi YA, Mon W, Ioannou N, Smogorzewski M. GENiE in a Bottle – Renasight Testing in the Kidney Transplant Setting – A Single Center Experience [abstract]. Am J Transplant. 2021; 21 (suppl 3). https://atcmeetingabstracts.com/abstract/genie-in-a-bottle-renasight-testing-in-the-kidney-transplant-setting-a-single-center-experience/. Accessed June 16, 2021.
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