Advances in genetic testing over the last decade have reduced the cost and time such testing required and increased understanding of the genes involved in conditions like congenital hearing loss. This study from Atlanta looks at genetic testing from a cohort of 122 patients seen between 2014 and 2017. Eighty-nine percent of these tests were conducted using a ‘comprehensive genetic testing technique’ which involved parallel sequencing. In one third of cases, a pathogenic variant was identified, and in one quarter a definitive genetic aetiology was found. GJB mutations (connexin) accounted for only a minority of these cases. This study shows the increasing role of genetic testing in routine clinical practice. Congenital hearing loss is an area where genetics is increasingly important. Genetic testing may not currently change the management of this patient group, but this cannot be far away. It is already recognised that some gene mutations are associated with improved outcomes from cochlear implantation. Furthermore, research into novel pharmacological treatments for hearing loss, as well as gene therapies, may mean that in the medium-term, curative therapies are available for patients with specific genetic aetiologies.

Genetic testing for congenital non-syndromic sensorineural hearing loss.
Raymond M, Walker E, Dave I, Dedhia K.
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Robert Nash

BM BCh, MA(Oxon), MRCS, MA, DOHNS, FRCS (ORL-HNS), Great Ormond Street Hospital, London, UK.

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