Genetic Testing in Prospective Kidney Donors: Current Evidence and Clinical Practice in Australia

Genetic testing is increasingly transitioning from being a research tool to standard clinical practice, but guidance for integrating genomics into living kidney donor assessment remains limited. This review provides an evidence-based framework for genetic testing in prospective kidney donors within clinical practice in Australia. Kidney donor genetic assessment requires first establishing a genetic diagnosis in the transplant recipient. Identifying which patients with chronic kidney disease warrant genetic testing depends on clinical phenotype, extrarenal manifestations, age of onset, and, crucially, family history of kidney disease. When a pathogenic variant is identified in the recipient, cascade testing of potential related donors enables informed decision-making, although interpretation requires nuance beyond simple positive or negative results. Genetic results should complement rather than replace traditional phenotypic donor assessment, with recognition that negative results do not eliminate all genetic risk. We propose a clinical algorithm for genetic assessment in potential living kidney donors in this review. For donor-recipient pairs with uncertain risk, we recommend shared decision-making within specialized kidney genetics clinics. Key principles of genetic testing include comprehensive genetic counseling, multidisciplinary team involvement, cascade testing strategies, and equitable access. These frameworks aim to optimize donor safety while maintaining access to living kidney transplantation for recipients with genetic kidney disease.