Mccarthy, Hugh J., Mallett, Andrew J., Sullivan, Patricia, Cowley, Mark J., and Mallawaarachchi, Amali C. (2024) Beyond DNA sequencing: genetic kidney disorders related to altered splicing. Nephrology Dialysis Transplantation, 39 (7). pp. 1056-1059.

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Abstract

[Extract] Genetic diagnostics are being increasingly utilized in both academic and clinical nephrology practice [1–4]. Confirming a genetic diagnosis in families with genetic kidney disease has multi-faceted impacts on healthcare outcomes [4]. Overall, it provides an opportunity for personalized medicine by optimizing therapy (such as early use of angiotensin-converting enzyme inhibitors in Alport syndrome), potentially avoiding invasive kidney biopsies or other investigations, giving evidence for cessation of therapeutics (such as unwarranted steroids in genetic nephrotic syndrome), and providing prognostic information pre-transplantation [4]. A genetic diagnosis also opens options for clinical trials and future treatments.

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