Precision diagnosis for paediatric deafness

Why this research matters? 

Permanent hearing loss (HL) affects 1-3 per 1000 children in Australia at birth and an estimated 6-10 per 1000 at school age. At least half of childhood HL is genetic, and a genetic diagnosis can inform management and provide information about recurrence risk. Despite its clinical and diagnostic utility and cost effectiveness, the highly heterogenous nature of genetic hearing loss can negatively affect testing costs and ordering behaviours.

The recent Medicare approval for HL genomic testing from November 2023 presents a crucial opportunity to mainstream genetic testing for hearing loss, but non-genetics medical specialists lack genomics training and confidence.

Study aims  

This study aims to:

  • Evaluate diagnostic yield for genetic testing for HL in Qld paediatric population

  • Identify genotype-phenotype correlations for genes associated with HL

  • Determine feasibility and perceived utility (clinical and personal) of genetic testing for HL in Australia

What we have achieved so far 

So far, we have: 

  • Conducted a retrospective audit for paediatric HL genetic testing in QLD. This allowed for determination of the diagnostic yield for HL genetic testing and genotype-phenotype correlations in the QLD paediatric population

  • Performed qualitative interviews with key stakeholders (consumers, policy/economic exerts, lab scientists, and both genetic and non-genetic HL clinicians). Participants were asked about their perceived clinical and personal utility of genetic testing for paediatric HL, and to identify barriers and facilitators to offering HL genetic testing in Australia

Current research updates 

  • Our current research includes: 

  • Utilising data from the retrospective audit to map frequency-specific audiograms by gene, both at diagnosis and most recent testing

  • Stakeholder interviews are currently undergoing analysis

Staying up to date  

If you’re interested in learning more about this research or getting involved, please contact us via email (preferred) or phone.  

📩 igmgenomics@uq.edu.au

Who is working on this study?  

How is this study funded?  

  • Illumina Education Grant

  • Qld Health Clinical Research Fellowship 

  • NHMRC Postgraduate scholarship

  • Offered Garnett Passe Research Scholarship

  • CHQ SERTA grant (Study Education and Research Trust Account)

  • UQ Faculty of Medicine Consumer and Community Involvement Kickstart Scheme