Evaluation of the NHS R67 Monogenic Hearing Loss Panel in a Single UK Centre

The NHS R67 genetic hearing loss panel was introduced in England in 2021 and has expanded the diagnostic approach to hearing loss. This study aimed to evaluate the diagnostic yield and clinical utility of the panel in paediatric and adult patients assessed through a tertiary multidisciplinary genetic hearing loss clinic.

A retrospective case review was conducted of patients referred to a tertiary genetic hearing loss multidisciplinary clinic who underwent R67 monogenic hearing loss analysis. Demographic data, referral patterns, family history, hearing loss severity, age at diagnosis, congenital cytomegalovirus testing, radiological findings, genetic results and hearing habilitation or rehabilitation strategies were analysed descriptively. Diagnostic yield was compared across hearing loss severity categories.

Eighty-four patients were included, comprising 46 children and 38 adults. A monogenic diagnosis was identified in 48.8% of patients overall, with a higher yield in children than adults: 63.0% versus 31.6%, respectively. Variants of uncertain significance were identified in 7.1% of patients. Hearing loss severity was significantly associated with identification of a genetic cause, although 35% of patients with an identified genetic cause had mild or moderate hearing loss.

The R67 monogenic hearing loss panel is a valuable diagnostic tool for investigating sensorineural hearing loss in children and adults, particularly when delivered through multidisciplinary clinics that support counselling and clinical decision-making. Further reporting is needed to refine referral criteria and support patient selection for targeted therapies.