Single Versus Multigene Testing for Hereditary Hearing Loss: Use and Costs in a Commercially Insured Cohort

ObjectiveThe objectives of this study were to describe trends in single-gene GJB2/6 (connexin 26/30) and multigene hearing loss panel (HLP) testing for hereditary hearing loss using real-world evidence. Study DesignRetrospective study using insurance claims data. SettingOptum Data Mart database from 2015 to 2020. MethodsRates of overall and hearing-specific genetic testing and costs to insurers and patients were reported. Linear regression models were used to assess the proportion of single-gene GJB2/6 testing over time. Additional linear regression models were used to assess changes in costs over time. ResultsFrom 2015 to 2020, 91,986 children received genetic testing for any indication, of which 601 (0.65%) received hearing-specific tests. The proportion of single-gene GJB2/6 testing remained similar over time (mean difference [MD]: -1.3% per year; 95% confidence interval [CI]: -4.3%, 1.7%), while multigene HLP use increased over time (MD: 4.0% per year; 95% CI: 0.4%, 7.5%). The median charge for single-gene GJB2/6 testing remained constant during the study period (MD: -$34; 95% CI: -$86, $18), while the median charge for multigene HLP decreased during the study period (MD: -$145 per year; 95% CI: -$278, -$12). ConclusionCompared to molecular testing for GJB2/6, HLPs are becoming more common for hereditary hearing loss. The comprehensiveness of HLP and decreasing costs provide justification for its more widespread adoption moving forward.