Jahan, Sadia, and Mallett, Andrew J. (2025) Genetic Testing in Potential Kidney Transplant Recipients and Their Donors: Building on What We Know Through New Real World Evidence. Transplantation, 109 (7). pp. 1115-1116.

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Abstract

[Extract] Transplantation is the optimal and desired form of kidney replacement therapy, but all too often, clinicians are left pondering, “What led to kidney failure in the first place?” Further questions then naturally arise as to whether a patient’s relative might be able to safely and feasibly donate a kidney to them, and moreover as to what the risks associated with this might be. These are all key quandaries faced by nephrologists seeking to provide care for their patients leading up to transplantation. Recent advancements in genomic sequence-based genetic testing have demonstrated the effectiveness and emerging utility in providing some answers, but only in the right setting, with the close support of genetic counselors and clinical geneticists. Studies show that a genetic cause of kidney disease may be identified in 10%–25% of patients with kidney failure.1,2 Various institutes have retrospectively investigated the yield of genetic testing in kidney transplant candidates, with some additionally examining potential genetic diagnoses in living kidney donors. Despite this, a knowledge gap remains around the magnitude of clinical utility in this space with evidence required to inform and frame clinical practice.

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