Effective case of genetic testing in a bilateral deafness patient

We report the case of a patient with bilateral deafness in whom genetic testing was found to be very useful for making treatment decisions. Otologic testing clearly revealed that the patient suffered from severe bilateral sensorineural hearing loss. However, the past and family history of hearing loss were unclear, making it difficult to make appropriate treatment decisions. Genetic testing revealed a gene mutation in GJB2, suggesting hereditary hearing loss. This diagnosis finally convinced the patient to undergo cochlear implantation. After the cochlear implant surgery, the hearing ability of the patient recovered well and the patient was satisfied with its efficacy in improving daily life. Although there still remain methodological and ethical problems, genetic testing may prove to be one of the important methods for the differential diagnosis of hearing loss.