2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss and Deafness

Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss and Deafness

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A retrospective analysis was conducted on patients suspected to have hereditary hearing loss and deafness who underwent genetic testing at the University of Rochester Medical Center from 2011 to 2021. The study aimed to evaluate the outcomes of genetic testing in these patients.<br /><br />The results revealed that patients with sensorineural hearing loss had more diagnostic tests compared to those without sensorineural hearing loss. However, patients with disabilities had fewer positive diagnostic tests compared to those without disabilities. Patients with a multi-system presentation were more likely to have a syndromic cause of hearing loss.<br /><br />The study also highlighted various genetic factors associated with hereditary hearing loss. For example, homozygous pathogenic variants in the GJB2 gene were identified as the most common cause of severe to profound autosomal recessive non-syndromic hearing loss. Mutation of the STRC gene was found to be the most common cause of mild to moderate autosomal recessive hearing loss.<br /><br />Additionally, the study discussed the importance of genetic testing in individuals with sensorineural hearing loss and those with a multi-system presentation. It suggested considering single gene GJB2 testing for patients with congenital hearing loss to limit incidental findings and avoid unnecessary testing.<br /><br />Overall, the findings of this study emphasized the value of genetic testing in the diagnosis and management of hereditary hearing loss and deafness. It highlighted the need for tailored approaches and considerations based on the specific genetic factors and patient presentations.

Asset Subtitle

Presenting Author - Acacia Bowden, BA; Co-Author - Alexandra Hubbel, MS; Co-Author - Lindsay Smith, MS; Co-Author - Chin-To Fong, MD;

Meta Tag

Auditory System

Genetic Testing

Co-Author Alexandra Hubbel, MS

Co-Author Lindsay Smith, MS

Co-Author Chin-To Fong, MD

Presenting Author Acacia Bowden, BA

Keywords

retrospective analysis

hereditary hearing loss

genetic testing

sensorineural hearing loss

diagnostic tests

disabilities

multi-system presentation

GJB2 gene

autosomal recessive hearing loss

genetic testing importance