Evaluation of the NHS R67 Monogenic Hearing Loss Panel in a Single UK Centre.
Level 4 - case-series / case-control
Retrospective single-centre case series
PubMed 42200350 · doi:10.1111/coa.70125
What was done
A retrospective case review evaluated 84 patients (46 children and 38 adults) referred to a single UK tertiary multidisciplinary clinic who underwent NHS R67 monogenic hearing loss panel testing. Diagnostic yield was assessed and compared across hearing loss severity categories alongside clinical and demographic variables.
What was found
A monogenic diagnosis was identified in 48.8% of patients overall, with a higher diagnostic yield in children than adults (63.0% vs. 31.6%). Variants of uncertain significance were identified in 7.1% of patients. Identification of a genetic cause was significantly associated with hearing loss severity, though 35% of patients with a genetic diagnosis had mild or moderate hearing loss.
Why it matters
These findings provide real-world diagnostic yield benchmarks for the NHS R67 panel, demonstrating its utility in clinical practice across both paediatric and adult hearing loss cohorts.
Limits
The study is constrained by a retrospective single-centre design and a small sample size (n=84), introducing potential referral and selection biases. Specific effect sizes, confidence intervals, and long-term therapeutic outcomes were not reported in the abstract.
Cited by
- supports Standard genetic panels for deafness yield a definitive diagnostic result in only about 50% of tested patients, with the rest showing variants of unknown significance (VUSs).