This article forms part of a report called Genomics in Victoria: What’s changed in 10 years? The information in this article is current as at October 2023.

Genomic testing was just emerging in medicine in 2013. Studies at the time were retrospective: offering genomic tests to patients who had already been extensively investigated for years.

Melbourne Genomics was the first to compare genomic testing with other health investigations in real time. The Alliance needed to know whether genomics would lead to a better outcome than other kinds of tests, and for which health conditions.

Nearly 4,000 Victorians received genomic testing from 2014-2019 for conditions ranging from rare childhood syndromes to acute myeloid leukaemia, focal epilepsy, solid cancers, congenital deafness, neurological and immunological conditions, kidney disease and more.1

The results were astonishing. Across the board, 19 times more patients received an informative result from genomic testing than usual care. More than two in five cancer and rare disease patients got an answer about their condition; and doctors were able to change the care of over half of those patients as a result.

Some patients got simple but life-changing treatments. Others went from being terminal to cancer-free. Others were able to plan families with confidence or knew how to provide their children with the right support to thrive. Many were spared painful and invasive tests or unnecessary medications.

Many of these studies were critical to the broader rollout of genomic medicine in Australia. They also showed how this complex test could be provided more widely, quickly and cost-effectively.

Across the board

19x more patients received an informative result from genomic testing than from usual care.

Change in care

42% of cancer and rare disease patients received an informative result through genomic testing. 1 in 2 of those patients had a change in care because of their genomic result.

Bone marrow failure

2 in 5 patients with bone marrow failure received a more accurate diagnosis.

Immunological conditions

5x more patients received a diagnosis through genomic testing.


This information was obtained from clinical studies from 2016-2020. Search studies.


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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