ArticleClinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery2026
Evaluation of the NHS R67 Monogenic Hearing Loss Panel in a Single UK Centre.
Article in Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionThe 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.
methodsA 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.
resultsEighty-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.
conclusionThe 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.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.