Australian Genomics: The First Five Years

This is a blog article in our series Research Bites, which reports on the research that Australian Genomics has been doing. In this series we are summarising peer-reviewed journal articles so we can share our findings with the community. 

The impact of Australia’s national initiative to accelerate the use of genomics in mainstream healthcare has been captured in a report published in the American Journal of Human Genetics.

Australian Genomics was established as a research collaboration in 2016 and became a national network of 100 organisations. These include hospitals, clinical and laboratory genetic services, research institutes, consumer organisations, and professional bodies, all instrumental in advancing the use of genomic testing in the diagnosis and management of rare diseases and cancers.

In its first phase Australian Genomics established a network of 32 clinical sites for recruiting research participants. During that period, 5273 individuals with rare diseases and cancers and 2399 relatives underwent genomic testing.

The average diagnostic rate in the rare disease flagships was 33 per cent, ranging from 17 to 54 per cent. In the cancer flagships, 48 per cent of findings were clinically actionable.

One of the most significant achievements of Australian Genomics has been to strategically build a connected, collaborative national network to enable collective learning.

Read the journal article: Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

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