2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Emerging Opportunities in the Genetic Diagnostics for Hearing Loss And Deafness: A New Open Access Program and the Clinical Importance of Including mtDNA Analysis

Emerging Opportunities in the Genetic Diagnostics for Hearing Loss And Deafness: A New Open Access Program and the Clinical Importance of Including mtDNA Analysis

Back to course

Video Transcription

Video Summary

In this video, Kim Gall and Dr. Jennifer Schlecht discuss various aspects of hearing loss and genetic testing for this condition. They define hearing loss as the loss of the ability to hear, with deafness referring to total or near-total loss of hearing. They emphasize that hearing loss is not limited to older individuals, as it can affect infants and children as well. The speakers explain the different types, severities, and configurations of hearing loss. They discuss the genetic and non-genetic causes of hearing loss, highlighting the importance of ruling out non-genetic causes before considering genetic ones. They explain the different types of genetic hearing loss, syndromic and non-syndromic, and mention that over 400 different syndromes have hearing loss as a feature. They also discuss the benefits of genetic diagnosis for hearing loss, such as planning for future needs, estimating recurrence risk, and avoiding medications that can cause hearing loss. The speakers then explain Blueprint Genetics' testing capabilities, including their comprehensive hearing loss and deafness panel, and their mitochondrial DNA analysis. They share insights from a case study and present data from their retrospective review, highlighting the diagnostic yield of adding mitochondrial DNA analysis to various panels. Lastly, they announce Blueprint Genetics' collaboration with KUAS to offer the Resonate program, providing no-cost genetic testing for individuals with auditory neuropathy.

Asset Subtitle

Blueprint Genetics

Keywords

hearing loss

genetic testing

deafness

types of hearing loss

genetic causes

syndromic hearing loss