Kidney disease often presents very differently in pediatric patients relative to adult patients. It is overall thought that utilization of genetic testing in the pediatric space could improve diagnostic accuracy; however, this has not been well studied.

Lauren Beretich PhD, MS, CGC discusses an article by Chen et al. that was published in Pediatric Nephrology; this article sought to determine the diagnostic yield and clinical impact of genetic testing for children with kidney failure”. Lauren describes the overall inclusion criteria of the study, overall categories of diagnosis for the patients used in this study, and the type of genetic testing utilized in this study. Overall, the authors found that there was approximately a 40% diagnostic yield within their population. They also found that 8 genes accounted for the majority of their positive results, and discussed the ways that genetic testing provided diagnostic and clinical utility.

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