Audiology
Placing genetics at the core of medical decisions
Audiology genetic testing is used to identify germline pathogenic variants that cause hereditary hearing loss. Most hereditary hearing loss is , but this area also covers syndromic forms such as , and syndromes. Although the condition is extremely heterogeneous, with pathogenic variants in more than 120 genes, pathogenic variants in GJB2 (connexin 26) are the most common cause of severe-to-profound autosomal recessive nonsyndromic hearing loss. About three-quarters of nonsyndromic cases are autosomal recessive, with autosomal dominant, X-linked and mitochondrial forms accounting for the remainder.
Approximately 80% of prelingual hearing loss is attributable to genetic causes, and identifying the underlying cause helps distinguish syndromic from nonsyndromic forms and predict disease progression.
A precise molecular diagnosis informs prognosis and habilitation planning, as set out in the , while the underlying gene may also help explain the variability in cochlear implantation outcomes.
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