A/Prof. Matthew Hunter1,2, Dr Frida Djukiadmodjo1,2, Mr Hong Ky Ho2, Ms Amanda Springer1,2, Dr Talia Maayan2,3, Dr Kerryn Saunders2,3
1Monash Genetics, Melbourne, Australia, 2Department of Paediatrics, Monash University, Melbourne, Australia, 3Department of Paediatrics, Monash Health, Melbourne, Australia
Background:
Paediatric-onset hearing impairment occurs in 3.2 per 1000 children in Australia and may present as an isolated feature or as part of a genetic syndrome. The majority of patients in this group do not receive a molecular diagnosis due to high heterogeneity and poor access to funding for genomic testing. A multidisciplinary paediatric genetic hearing loss clinic has been running since 2015 at Monash Health to facilitate evaluation and genomic testing where appropriate.
Methods:
An audit was conducted for patients seen in our clinic between 2015 and 2021, with an emphasis on the 2020 and 2021 patient cohorts. Demographic data, referral source, phenotypic information, inheritance pattern, family history, genetic testing methodology and molecular diagnosis information were extracted and analysed.
Results:
More than 200 patients attended our clinic in the 7-year period. The majority were referred from the local paediatrician-led hearing loss investigation clinic where patients were pre-screened for GJB2, copy number changes on microarray, structural anomalies on neuroimaging, congenital cytomegalovirus infection, thyroid dysfunction, and haematuria/proteinuria, prior to genetics referral. Funded genomic testing was offered based on clinical utility, such as management or pregnancy implications, or where there was a family history.
Discussion:
Through this retrospective review, we describe the diagnostic rates achieved using our local algorithm. We propose a standardised approach to the investigation and the provision of funded genomic testing for patients with paediatric-onset hearing impairment.
Biography:
A/Prof Matt Hunter is a clinical geneticist, and head of department at Monash Genetics. He has been running clinics for the genetics of deafness since 2010. Email: matthew.hunter@monashhealth.org