Sensorineural hearing loss (SNHL) in adults can be a result of multiple factors such as age, noise exposure and autoimmune pathology. In a group of patients, no cause is identified and the SNHL is treated as idiopathic. Authors evaluate the utility of a next-generation sequencing (NGS) gene panel in the aetiological diagnosis of adult-onset SNHL. A total of 65 adult patients were recruited. Cases strongly suspected of involving presbycusis, environmental factors (acoustic trauma, ototoxic drugs, viral or bacterial infections), and SNHL with associated vertigo or instability, and also patients with unilateral sudden hearing loss, were excluded from the study. The average age at hearing loss (HL) onset was 41 years (range from 16 to 68 years). Sixty-three percent of patients had a family history of late-onset HL (40% first-degree relatives, 20% second-degree relatives, and 3% first- and second-degree relatives). All patients had bilateral moderate to severe SNHL. Fifteen pathogenic/likely pathogenic variants, affecting 10 different genes considered to underlie the audiologic phenotype of 15 patients (23% diagnostic yield), were isolated. The most common causative gene in the population was TECTA. Authors concluded that NGS gene panels demonstrate a clinically significant diagnostic yield for SNHL in adults. Finding the genetic cause of adult-onset SNHL enables genetic counselling and provides prognostic information. Genetic testing will become more available and affordable with time. This will allow the investigation of SNHL and other ‘idiopathic’ conditions and help in offering a personalised, preventive, predictive, and participative medicine.
Are we screening enough? Genetics in adult-onset sensorineural hearing loss
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