Kidney360 · 2026
Real-World Outcomes of a Pediatric Kidney Genetics Clinic: Diagnostic Yield, Variants of Uncertain Significance, and Clinical Translation.
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Martin Bree E, Meserve Margaret M, Frank Camille Nicolas, Amanullah Farhana, Ashoor Isa, Baum Michelle A, Daga Ankana, Daouk Ghaleb H, Ferguson Michael A, Rodig Nancy M, Sheward Lea, Somers Michael J G, Stein Deborah R, Traum Avram Z, Sampson Matthew G, Hildebrandt Friedhelm, Mann Nina, Majmundar Amar J
Аннотация
BACKGROUND: 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. Specialized kidney genetics clinics may optimize both testing strategies and clinical application, though outcomes remain underreported.
METHODS: 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. Our referral model, services, outcomes, clinical impacts, and considerations for genetic testing are reviewed.
RESULTS: One-hundred and four individuals were referred to our clinic. Indications for referral included pre-test counseling and genetic testing implementation (64/104), counseling or clinical evaluation for externally ordered test results (38/104), and clinical confirmation of research-based results (2/104). 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 (VUS), seven (15%) of which were considered diagnostic after adjudication. Ten additional candidate variants and incidental findings were detected. Overall, 68% of tested patients had at least one physician-reported clinical impact, including diagnostic certainty (43/77, 56%), change in disease management (49/77, 64%), and family planning implications (20/77, 26%).
CONCLUSIONS: 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.
METHODS: 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. Our referral model, services, outcomes, clinical impacts, and considerations for genetic testing are reviewed.
RESULTS: One-hundred and four individuals were referred to our clinic. Indications for referral included pre-test counseling and genetic testing implementation (64/104), counseling or clinical evaluation for externally ordered test results (38/104), and clinical confirmation of research-based results (2/104). 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 (VUS), seven (15%) of which were considered diagnostic after adjudication. Ten additional candidate variants and incidental findings were detected. Overall, 68% of tested patients had at least one physician-reported clinical impact, including diagnostic certainty (43/77, 56%), change in disease management (49/77, 64%), and family planning implications (20/77, 26%).
CONCLUSIONS: 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.