(820) Clinical Utility and Diagnostic Yield of Multigene SNHL Panels in a Pediatric Cohort

Introduction: Comprehensive genetic screening is increasingly utilized in the evaluation of pediatric sensorineural hearing loss (SNHL). Recently, eligibility for testing has expanded to include children with unilateral SNHL. We report the early diagnostic yield and  impact of these screening tests following their introduction into routine pediatric otology practice.

Methods: A retrospective review was performed of the first 50 pediatric patients with unilateral or bilateral SNHL who underwent either GeneDx hearing loss or Prevention Genetics Resonate© in-office testing following implementation in 2024 at a tertiary pediatric center. Demographic characteristics, laterality, risk factors, results, and downstream management changes were analyzed. Outcomes include diagnostic yield, syndromic diagnoses, and impact on clinical management.

Results: Positive results in 20% of patients were identified, including patients without a family history. Six (6) syndromic diagnoses were identified, a majority of which lacked syndromic features at initial presentation. Diagnostic yield was significantly higher in bilateral HL than unilateral HL patients (p = 0.003). Genetic findings influenced counseling and/or management for 50% of patients who tested positive. Three (3) patients with positive results have not completed post-test counseling, so future changes in management may occur.

Conclusions: Early institutional experience with these genetic screening tests demonstrates a substantial diagnostic yield in pediatric SNHL. There is a significantly lower success rate among patients with unilateral SNHL compared to those with bilateral SNHL. Ongoing data collection will refine yield estimates and impact, supporting informed counseling as molecular therapies and eligibility continue to evolve.