Paediatric hearing services and research in Victoria: working towards predicting prognosis in the era of genomic medicine

Dr Valerie Sung1

1Royal Children’s Hospital, Murdoch Childrens Research Institute, University Of Melbourne, Camberwell, Australia

In 2016, Victoria has witnessed the start of a paediatric hearing service aimed to deliver coordinated, standardised medical and developmental care pathways and the Melbourne Genomics Health Alliance Deafness Flagship offering whole exome sequencing in 2016-17 to every Victorian newborn with bilateral moderate or worse hearing loss. The two new initiatives have been rolled out in close collaborations with the existing Victorian Infant Hearing Screening Program and the Victorian Childhood Hearing Impairment Longitudinal Databank (VicCHILD), a whole-of-state research databank of children with congenital hearing loss (n≈600) and the largest databank internationally dedicated to epidemiologic research in this field. This unique deafness infrastructure allows the creation of a rich databank including detailed phenotypic and genotypic information to inform epidemiology, prediction, quality and intervention research in congenital hearing loss. In particular, it will lead to the development of a predictive tool combining (i) hearing profile, (ii) genotype (from whole exome sequencing), (iii) clinical phenotype, and (iv) developmental/psychosocial risk factors that will accurately predict future outcomes for infants with congenital hearing loss. This will enhance the quality of diagnostic pathways to enable personalised, streamlined clinical management directed at improving future outcomes.


Biography:

Valerie is a general paediatrician at The Royal Children’s Hospital (RCH) Melbourne, NHMRC Early Career Fellow at the Murdoch Childrens Research Institute and honorary fellow at the University of Melbourne. She has clinical and research interests in congenital hearing loss, infant crying and sleep problems. She leads The RCH Caring for Hearing Impaired Children Clinic and works in The RCH Unsettled Babies Clinic. Valerie’s PhD examined the role of probiotics for infant colic, and is expanding her research interests in congenital hearing loss.

About ANHSC

The Australasian Newborn Hearing Screening Committee aims to foster the establishment, maintenance and evaluation of high quality screening programs for the early detection of permanent childhood hearing impairment throughout Australia and New Zealand.

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