About 37 million adults in the United States, and over 840 million people worldwide, are impacted by chronic kidney disease, yielding significant morbidity and mortality and high healthcare costs. The rapid expansion in accessibility and decreased cost of genetic sequencing technologies has prompted increased identification of monogenic contributors to kidney disease. Moreover, studies have demonstrated the high yield of genetic testing in renal cohorts. Currently, mutations in over 600 genes are known to contribute to different forms of kidney and genitourinary disorders, with monogenic mutations underlying the pathology of over 70% of children with chronic kidney disease and about 10% of adults with end stage kidney disease. Clinical genetic testing in kidney disease and transplantation offers meaningful applications, including those relating to diagnosis, prognosis, treatment decisions, and implications for family members and potential living donors. However, clinical implementation raises notable concerns. This review will highlight logistical barriers, including the complexity of variant interpretation, limitations in clinician knowledge and training, and the greater need for genetic counseling. It will then explore select ethical, legal, and social considerations in the clinical applications of genetic testing in kidney disease and transplantation, including disparities in access and accuracy across populations, difficulties in processes of informed consent and return of results, and legal and privacy concerns. Notably, these considerations are not discrete and the complex issues among them overlap considerably, requiring multifaceted and adaptive interventions.
