Image courtesy: Walter and Eliza Hall Institute

Home  »  Our work  »  Demonstration Project

Demonstration Project

In an Australian-first, Melbourne Genomics' Demonstration Project provided genomic sequencing to selected Victorian hospital patients and evaluated its usefulness for medical practice.

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

  • diagnosing genetic conditions of the peripheral nervous system, collectively known as hereditary neuropathies (sometimes also called CMT)
  • identifying if there is an underlying genetic cause in a person with a particular form of epilepsy (focal epilepsy)
  • identifying the underlying inherited cause in cases of hereditary colorectal cancer
  • diagnosing infants and children with genetic conditions of childhood (Childhood Syndromes)
  • helping us understand which patients with acute myeloid leukaemia (AML) benefit from bone marrow transplants

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

The Demonstration Project has:

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

This comprehensive, patient-centred model for bringing genomics into healthcare is now being implemented 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 sequencing 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 had a change in care)
  • patients can have fewer tests because genomic data can be stored and analysed again and again (one 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 provides evidence that, for certain medical conditions, genomic sequencing can replace other tests – resulting in better use of precious healthcare dollars.

Key findings regarding patients were:

  • Patients want genomic sequencing (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 uses relating to their condition, and 93% agreed to share data for any research)

Specific findings

For infants with genetic syndromes, the results are spectacular: sequencing yielded 5 times more diagnoses at 75% less cost per diagnosis.

Genomic sequencing 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-fifth of diagnosed patients, due to more precise diagnosis of their condition (28% of children and 21% overall). Changes included stopping unnecessary medications and check-ups, and providing new treatment and surveillance 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 sequencing 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 sequencing, 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.