The most common genetic cause of auditory neuropathy is insufficient production of a protein called otoferlin, which is expressed in cochlear inner hair cells and enables communication with the auditory nerve. Genetic testing can diagnose otoferlin deficiency and other causes of hearing loss—yet it’s not widely done.
As we enter a new era of precision gene therapies, it’s crucial to expand access to genetic testing so families can understand the reason for their child’s congenital hearing loss and seek out relevant clinical trials.
That’s why Decibel Therapeutics has partnered with Invitae to offer genetic testing at no charge for children with auditory neuropathy. The program, Amplify™, is available to kids younger than age five. Doctors order the test online, it’s performed with a simple cheek swab, and results arrive within weeks.
Decibel is advancing an investigational gene therapy for otoferlin deficiency, along with other programs designed to restore or improve hearing and balance. We’re working toward a world where the joy of hearing is available for all. Expanded genetic testing is an essential first step.
This article is a part of the May/June 2021 Audiology Today issue.