Utilization of genetics services in the diagnosis of hearing loss in newborns in the state of Ohio.

Abstract

Introduction: In 50-60% of confirmed congenital hearing loss (HL) diagnoses, the etiology is genetic. The importance of a genetic evaluation for HL is recognized by several national organizations in the United States. This study aimed to evaluate provider practice patterns, beliefs, and knowledge of the role of genetics in the medical diagnosis of HL and assess parent experience and knowledge regarding the role of genetics in the diagnostic process.

Methods: Two surveys were designed using published guidance on optimal care of newborns with HL. Participants included providers (otolaryngologists (ENT) and audiologists) and parents of a newborn with confirmed HL in the state of Ohio from 2017 to 2018.

Results: 95 providers (14 ENT; 81 audiologist) and 39 parent responses were included in the analysis. Only 51% of providers refer for a genetics evaluation (n = 49), and less than 10% order genetic testing (n = 9). However, 96% of providers believe families should be presented with the opportunity to pursue a genetics evaluation. In this study, only 46% (n = 18) of parents reported that they were referred to genetics, and 36% (n = 14) reported that their child had genetic testing for HL. For parentss whose child did not have a genetic evaluation, 53% (n = 17/32) were very likely or likely, 25% (n = 8/32) were unsure, and 22% (n = 7/32) were very unlikely or unlikely to pursue an evaluation.

Conclusion: There is inconsistent implementation of guideline directed care for genetic services for HL. As opportunities for gene therapies for HL advance, there is a need to expand access to genetic evaluation for HL.