View Only- Genetic Testing for Hearing Loss and Deafness Drives Tailored Care for the Deaf and Hard of Hearing and their Families-Genetic Testing for Hearing Loss and Deafness Drives

Video Transcription

Video Summary

The webinar discussed genetic testing for hearing loss and how it drives tailored care for individuals who are deaf or hard of hearing and their families. The presenters, Richard Smith and Amanda Schaffer, discussed several representative cases and the results of otoscope genetic testing. They highlighted the clinical utility of genetic testing, including the ability to confirm syndromic versus non-syndromic presentations of hearing loss, provide prognostic information on the stability or progression of hearing loss, and identify support groups and patient advocacy organizations for psychosocial support. The webinar also discussed the challenges of interpreting genetic variants, such as determining phase and differentiating between full gene deletions and pseudogen conversions. The presenters emphasized the importance of comprehensive genetic testing and the potential for gene therapy in the future. They also mentioned resources such as AudioGene and the Deafness Variation Database, which are publicly available and can be helpful in the care of patients with hearing loss.

Keywords

genetic testing

hearing loss

tailored care

deaf

hard of hearing

prognostic information

support groups

gene therapy

comprehensive genetic testing

patient advocacy organizations