Congenital hearing loss: introduction of the R67 large gene panel in England.

BACKGROUND

Congenital hearing loss is a chronic condition which occurs worldwide. In the past, investigations focused on testing the most common genes associated with hearing loss (such as Connexin 26-related hearing loss). Targeted testing of specific genes was requested only when a particular syndrome was suspected. Recent advances have led to the development of a large gene panel which utilises next-generation sequencing to simultaneously test for pathogenic variants in many genes associated with hearing loss.

AIM: This review article aims to highlight the changes in the approach to congenital hearing loss in the context of the R67 gene panel, and how its use may increase the efficiency of the diagnosis and management of this condition.

CONCLUSION

The use of this large gene panel has revolutionised the approach to hearing loss. Uptake of this large gene panel has resulted in prompter diagnosis and therefore more appropriate clinical management.