Kidney Week

Abstract: FR-PO0919

Real-World Outcomes of a Multidisciplinary Pediatric Kidney Genetics Clinic: Diagnostic Yield, Variant of Unknown Significance Assessment, and Clinical Translation

Session Information

• Pediatric Nephrology: Genetic Diseases, Development, Neonatal Nephrology, Glomerular Diseases, and More
  October 23, 2026 | Location: Exhibit Hall A, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Pediatric Nephrology

• 1800 Pediatric Nephrology

Authors

• Martin, Bree E., Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, United States

Bree E. Martin, MS

• Meserve, Margaret, Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, United States

Margaret Meserve, MSc

• Hildebrandt, Friedhelm, Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, United States

Friedhelm Hildebrandt, MD

• Mann, Nina, Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, United States

Nina Mann, MD

• Majmundar, Amar J., Division of Nephrology, Boston Children's Hospital, Boston, Massachusetts, United States

Amar J. Majmundar, MD, PhD

Background

Despite the growing role of genetic testing in pediatric kidney disease, translation of genomic findings into clinical care remains challenging due to limited kidney genetics expertise and infrastructure. Specialized kidney genetics clinics (KGC) may optimize both testing strategies and clinical application, though real-world outcomes remain underreported.

Methods

We performed a retrospective analysis of the first two years (11/2022 - 11/2024) of the Boston Children’s Hospital KGC, 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

104 individuals were referred to the KGC. Indications for referral included pre-test counseling and implementation of genetic testing (64/104), genetic counseling or additional clinical evaluation for externally ordered genetic test results (38/104), and clinical confirmation of research-based genetic results (2/104). Of 64 probands referred for pre-test counseling and implementation, we recommended genetic testing for 58% of individuals (37/64) and identified a diagnostic genetic variant in 51% of those tested (19/37). Across all 104 probands seen, 77 individuals underwent genetic testing, either by the KGC or by external providers. There was substantial genetic heterogeneity in this cohort, and 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 by the KGC. Ten additional candidate variants and incidental findings were detected. Overall, 68% of patients who underwent genetic testing had at least one physician-reported clinical impact, including diagnostic certainty (43/77, 56%), change in disease management (49/77, 64%), and implications for family planning (20/77, 26%).

Conclusion

A specialized pediatric KGC 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. These outcomes support broader adoption of dedicated KGCs to optimize genomic evaluation and care for children with kidney disease.

Funding

• NIDDK Support