Melbourne Genomics’ Paediatrics Statewide Project aims to remove barriers to genomic testing for Victorian children with suspected genetic conditions.

What are we doing

Studies from Melbourne Genomics and others have demonstrated genomic testing for children with suspected genetic conditions can make diagnosis five times more likely, at less than half the cost of other tests.

Medicare now covers tests for eligible children, but it is complex and has several conditions attached. While the evidence is there and the funding is there, the test is not being used as widely as expected. It’s important to understand what might keep paediatricians from ordering a test with proven diagnostic benefits.

Based on interviews with paediatricians, families and carers, and genetics experts in Victoria, we found that:

  • Doctors don’t always know when genomic sequencing is the right test to use
  • Accessing genetic advice can be difficult for doctors
  • Ordering a funded genomic test can be time consuming
  • Genomic sequencing is a complex test to explain to families and carers
  • Families and carers need support before and after the test

We’re exploring how it can be simpler for paediatricians in Victoria to order the test and use the results; for families to get support; and for genetics experts to provide advice where needed.

What the Paediatrics Statewide project will achieve

We’re working together with key stakeholders to identify, develop and evaluate solutions. The first stage of the co-design process included implementation scientists from the University of Melbourne’s Methods and Implementation Support for Clinical and Health (MISCH) Research Hub, and community advocates such as SWAN (Syndromes Without a Name) and the Genetic Support Network of Victoria (GSNV).

We’ll be testing resources to support paediatricians and families/carers. We will also work on ways for paediatricians to access on-demand genetics support for doctors. Pathology labs, the Victorian Clinical Genetics Services and Monash Health, will be closely involved in designing solutions.

Resources and insights from this project will be applied statewide to support broader uptake of funded genomic testing. This will help improve access for Victorian children with undiagnosed conditions to genomic medicine.

The Paediatrics Statewide Project is funded by the Victorian Government and the members of the Melbourne Genomics Health Alliance.


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Melbourne Genomics acknowledges the Wurundjeri people of the Kulin Nation, on whose lands we work, and all First Nations peoples across Victoria. We pay respect to Elders past and present. We also acknowledge the First Nations health professionals, researchers and leaders who are shaping the future of genomic medicine.

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