November 3, 2016
Minister Hennessy with child patient Ginger and her family

Victorian Health Minister, The Hon Jill Hennessy, today announced key findings from the Demonstration Project of the Melbourne Genomics Health Alliance, which show that patients get quicker, more accurate diagnosis and more personalised care when genomic sequencing is delivered within healthcare.

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 study 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)

“This work shows when and how genomic sequencing can bring benefit to patients, doctors and researchers,” said Melbourne Genomics’ inaugural Board Chair, Catherine Walter. “For infants with genetic syndromes, the results are spectacular: sequencing yielded 5 times more diagnoses at 75% less cost per diagnosis. That means fewer invasive medical procedures for these children.”

“For undiagnosed children, having access to genomic sequencing early on and as part of mainstream healthcare will give the best chance of diagnosis and better treatment plans,” said Heather Renton, President of SWAN Australia, an advocacy group for undiagnosed families. “It can save years of anxiety from not knowing. If families are able to share data for further research, this can only be a good thing, as more children will be diagnosed.”

The Demonstration Project provided genomic sequencing to 315 patients, with one of five medical conditions, through a highly collaborative alliance of leading healthcare and research organisations in Melbourne.

Genomic sequencing resulted in a diagnosis for almost half (42%) of the adults and children with hereditary neuropathy (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.

“In the next three years, Melbourne Genomics Health Alliance will further evaluate the use of genomic sequencing for 11 more medical conditions,” said Catherine Walter. “Our collaborative and comprehensive approach to bringing genomics into healthcare is now also being implemented through the Australian Genomics Health Alliance and the Queensland Genomics Health Alliance – gathering more evidence for how we can best use genomics in medicine.”

View Ten News story and  Seven News story and Herald Sun story.

[Image: Victorian Health Minister, The Hon Jill Hennessy (second from right), with three-year-old Ginger and her family at the announcement event. Ginger's genetic condition was accurately diagnosed through the Demonstration Project; she is one of only 43 people worldwide to have her specific genetic variant.]


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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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