The Demonstration Project invited 315 patients from The Royal Melbourne Hospital and The Royal Children’s Hospital to have genomic testing, in order to investigate how useful this test could be in:

Participating patients were offered genetic counselling and genomic testing in addition to all usual investigations that doctors would normally arrange for their condition.

The Demonstration Project:

  • Determined the benefits to patients of genomic testing in comparison to tests usually provided for their condition, and
  • Developed a pathway for doctors to provide genomic testing to patients within Victoria’s healthcare system.

This comprehensive, patient-centred model for bringing genomics into healthcare has since been adopted nationally through the Australian Genomics Health Alliance and in Queensland through the Queensland Genomics Health Alliance.

Key findings

We found that when doctors provide genomic testing to patients within Victoria’s healthcare system:

  • At least 6 times more patients receive a diagnosis
  • Patients receive care tailored to their individual genetic make-up
    (28% of children and 21% of all diagnosed patients received more precise care)
  • Patients can have fewer tests because genomic data can be stored and analysed again and again (1 in 10 undiagnosed patients received a result this way, a number expected to increase as we learn more about the genome from researchers)

Importantly, the Demonstration Project provided evidence that, for certain medical conditions, genomic testing can replace other tests – resulting in better use of precious healthcare dollars.

Key findings regarding patients were:

  • Patients want genomic testing (more than 90% of those approached agreed to the test)
  • 96% of patients said they had enough information to make a decision about testing after genetic counselling
  • Patients want their data stored for future analysis and research
    (98% agreed to this for research relating to their condition, and 93% agreed to share data for any research)

Specific findings

For infants with genetic syndromes, the results were spectacular: genomics yielded 5 times more diagnoses at 75% less cost per diagnosis (on 2015 test costs). This evidence subsequently led to Medicare funding being made available to support genomic testing for children with a suspected complex genetic condition.

Genomic testing resulted in a diagnosis for almost half of the adults and children with hereditary neuropathies (inherited forms of muscle weakness), whereas none had received a diagnosis through usual testing.

Doctors changed medical care for at least one in every five diagnosed patients, due to more precise diagnosis of their condition (28% of children and 21% overall). Changes to care included stopping unnecessary medications and check-ups, new treatment or monitoring for early detection of known complications.

Project details

The Demonstration Project was developed and funded by the seven founding members of the Melbourne Genomics Health Alliance, to investigate how and when genomic testing can improve healthcare.

A Community Advisory Group was established at the outset, to give input across the work program and ensure consideration of community values, perspectives and priorities.

An important component of the project was to better understand the views and experiences of patients undergoing genomic testing, as well as those of clinicians and scientists on what impact genomics had on their practice.

The Demonstration Project was officially launched in 2014 and ran for two years. The Victorian Government supported the project’s second year, with an allocation of funding that doubled the number of patients tested.


We could talk genomics all day, but we’ll send you only what’s useful and interesting.

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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