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Australian Genomics and RCPA Quality Assurance Program: developing an interpretive module for genomic testing for Childhood Syndromes and ID (Medicare item: 73358)

Primary organisation: The Children's Hospital at Westmead

Principal Investigator: A/Professor Bruce Bennetts

Flagship requested: Brain malformations, Epileptic encephalopathy, Intellectual disabilities, Leukodystrophies

Co-applicants: Mrs Dani Webber (The University of Adelaide), Dr Dimitar Azmanov (PathWest), A/Professor Karin Kassahn (SA Pathology), Mr Ben Lundie (Pathology Queensland), Dr Bryony Thompson (The Royal Melbourne Hospital), Dr Alicia Byrne (Broad Institute), A/Professor Sebastian Lunke (Victorian Clinical Genetic Services), Dr Sze Chai (The Royal College of Pathologists of Australasia), Dr Michale Buckley (NSW Health Pathology), Professor John Christodoulou (Murdoch Childrens’ Research Institute)

Approval date: June 2022

Applicant’s project summary:

More genomic tests are expected to be added to Medicare – meaning Medicare will cover all or some of the cost for a larger number of genomic tests for patients in future. With multiple private and public laboratories involved in delivering genomic services, it is essential to have quality assurance processes in place to make sure that all testing laboratories find and report the same result. This project will pilot the delivery of a quality assurance module for identifying and reporting results related to the Childhood Syndromes and Intellectual Disability Medicare item number. The pilot is expected to lead to an assessment method for Australian laboratories’ analysis and reporting processes to be benchmarked against standards, in a way that can be used going forward.

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