Genetics of childhood hearing loss

Summary Genetics of childhood hearing loss

Project Details

Congenital hearing loss affects 1-3 per 1000 children. Over the last quarter century, remarkable advances have transformed these children's life chances: universal newborn hearing screening, early access to technology, intervention and cochlear implantation. Yet, early diagnosis and intervention do not guarantee improved outcomes. The Victorian Childhood Hearing Impairment Longitudinal Databank (VicCHILD) is a statewide databank (with more than 950 hearing-impaired children to date) designed to discover the hidden factors that predict language and quality of life outcomes. One of the possible factors may be the underlying genetic aetiology, poorly understood to date due to the lack of comprehensive diagnostic testing.

Recent years have seen great advances in genetic testing. In 2017-2018, exome sequencing was offered to newborns in VicCHILD with moderate to profound hearing loss, leading to monogenic diagnoses for 59 of 106 newborns, raising diagnostic rates from 22% to 56% of the eligible VicCHILD cohort and changing management for 51%. Translation of exome sequencing into routine clinical care now demands evidence as to its prognostic prediction of long-term child outcomes, cost-utility and cost-consequence benefits.

We seek an outstanding clinician doctoral researcher to complete exome sequencing for the rest of the 2017-2108 VicCHILD cohort with mild and unilateral hearing loss, and to complete collection of the 5-7 year old longitudinal outcomes of the whole 2 year VicCHILD cohort.