A Sponsored Genetic Testing and Counseling Program for Sensorineural Hearing Loss Reduces Genetic Testing Barriers

Introduction: Despite more than 60% of congenital sensorineural hearing loss (SNHL) being due to an underlying genetic cause, only a minority of eligible patients obtain genetic testing. A genetic diagnosis may provide useful information about inheritance risk, prognosis of progression, likelihood of a syndromic condition, and potential eligibility for gene therapy clinical trials. Barriers to testing include insurance reimbursement, educational gaps, and availability of genetic services. Our objective is to remove some of the key barriers to genetic testing for hearing loss to increase utilization of genetic testing and facilitate earlier and more accurate diagnosis.

Methods: A no-charge genetic testing and counseling program for SNHL was initiated in June 2024. Testing was performed by targeted panel sequencing of 274 hearing loss associated genes. Individuals under 40 years of age in the U.S. with at least one of the following are eligible to participate: 1) bilateral SNHL of moderate, moderately severe, severe, or profound degree, 2) auditory neuropathy. Demographic and genetic findings are reported.

Results: From June to December 2024, 438 patients received genetic testing. Approximately 50% of referrals for genetic testing/counseling came from otolaryngologists/audiologists. The overall genetic diagnostic rate was 33% while children 0 to 2 years of age had a diagnostic rate of 46%. The most common mutations associated with non-syndromic SNHL were in GJB2, STRC, OTOF, SLC26A4, and USH2A. Mutations associated with syndromic conditions were identified in 27% of patients with a genetic diagnosis.

Conclusions: Implementation of a sponsored genetic testing and counseling program for SNHL resulted in rapid uptake by otolaryngologists/audiologists and yielded a meaningful diagnostic rate. Accurate genetic diagnosis informs patient care through the identification of syndromic conditions prior to symptom onset, prognostication for progressive forms of hearing loss, and identification of potential gene therapy trial participants.