Precision diagnosis for paediatric hearing loss research protocol

Dr Karen Liddle^1,2, Dr Rachael Beswick¹, Dr Aideen McInerney-Leo²

¹Queensland Children’s Hospital, Children’s Health Queensland, South Brisbane, Australia, ²Translational Research Institute, University of Queensland, Woolloongabba, Australia

Purpose:
The purpose of this research proposal is to characterise the clinical and genetic findings in individuals with permanent childhood hearing loss (HL) associated with enlarged vestibular aqueduct (EVA) and capture the extent to which this additional data impacts on management. To complete this, the following research questions are posed:

1. To evaluate the extent to which genetic testing in children with EVA informs the diagnosis (diagnostic yield)
2. To analyse and evaluate the clinical and imaging phenotype of individuals with EVA
3. To assess the impact of integrating comprehensive clinical and genetic information.

Nature and scope of the topic:
Retrospective audit and prospective natural history study will be completed and clinical parameters including imaging will be analysed. Genetic testing will be offered and results integrated with clinical information. Evaluation will be via semistructured interviews with (i) parents and (ii) medical/ allied health staff about integration of genetic testing into the current care model.

Issue or problem under consideration:
HL is highly heterogeneous genetically. While Australian children benefit from technologies, leadership and expertise in implementation of universal newborn hearing screening, diagnosis and cochlear implantation, Australia lags behind many other countries in relation to accessibility, availability and uptake of genetic testing in HL. As Australia considers whether to make genomic testing for HL rebatable via Medicare, it is crucial to determine how to integrate genomic, imaging, and clinical data for maximum clinical utility in this population.

Outcome or conclusion reached:
This project will use a defined condition (EVA) to develop a model for integrating clinical information that is already collected with genetic results to allow personalised care and mapping of outcomes.  It will inform the standardisation of clinical evaluation and care guidelines for individuals with permanent childhood hearing loss secondary to EVA and for hearing loss more broadly.

Biography:

Dr Karen Liddle, MBBS FRACP MPH, is a Senior Staff Specialist Paediatrician at the Queensland Children’s Hospital and PhD candidate with the University of Queensland with the Integrating Genomics into Medicine Group. She has been clinically and developmentally assessing children with permanent hearing loss in the Childhood Hearing Clinic for twelve years.  Her current research engages national and international collaborators to evaluate the utility of genetic testing and imaging in informing diagnoses and improving outcomes in childhood hearing loss.  She is a member of the Childhood Hearing Australasia Medical Professionals (CHAMP) network and the Australasian Newborn Hearing Screening Committee.