Real-World Outcomes of a Pediatric Kidney Genetics Clinic: Diagnostic Yield, Variants of Uncertain Significance, and Clinical Translation.
Most children tested in a kidney genetics clinic had a real clinical impact
Real-World Outcomes of a Pediatric Kidney Genetics Clinic: Diagnostic Yield, Variants of Uncertain Significance, and Clinical Translation.
Despite the growing role of genetic testing in pediatric kidney disease, translating genomic findings into clinical care remains challenging due to limited kidney genetics expertise and infrastructure.
We performed a retrospective analysis of the first two years (11/2022 - 11/2024) of the Boston Children's Hospital kidney genetics clinic, led by two pediatric nephrologists with genetics expertise and a certified genetic counselor.
genetic testing changed care or diagnosis for most tested patients
Of 64 probands referred for pre-test counseling, we recommended genetic testing for 58% of individuals (37/64) and identified a diagnostic variant in 51% of those tested (19/37).
Across all 104 probands, 77 underwent genetic testing, either by our clinic or external providers.
The cohort showed substantial genetic heterogeneity; 46 individuals had kidney genetic diagnoses across 28 genes.
Forty-seven individuals carried at least one variant of uncertain significance (variant of uncertain significance), seven (15%) of which were considered diagnostic after adjudication.
A specialized pediatric kidney genetics clinic achieves high diagnostic yield and demonstrates measurable clinical impact.
By integrating genetic testing, expert variant interpretation, and clinical translation, this multidisciplinary model addresses key barriers in pediatric kidney genetics and supports broader adoption of kidney genetics clinics to optimize genomic evaluation and care for children with kidney disease.