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.
The paper looks at the outcomes of the first five years of Australian Genomics, which 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 across 19 flagship studies. 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.
Beyond the diagnostic and clinical outcomes, the paper says other factors are increasingly appreciated by patients and families: “These include ending the diagnostic odyssey and associated uncertainty, providing prognostic information, restoring reproductive confidence and enabling access to peer support.”
A key research priority for Australian Genomics has been the development and application of health economics to generate evidence for the outcomes and cost-effectiveness of genomic testing.
Studies showed that childhood rare conditions have significant effects on parental quality of life, and that genomic testing is highly valued by the public and families experiencing rare conditions, while generating cost-savings to the Australian healthcare system.
The paper highlights the many products and national resources developed during Australian Genomics’ first five years, some of which are now embedded in genomics research and practice.
They include platforms and resources to promote consistent interpretations of genomic data, clinical, research and dynamic consent, and the increasingly complex and critical area of data storage and sharing. These integrated national data resources are crucial in supporting a “virtuous cycle” between clinical and research genomic delivery, a major legacy of Australian Genomics.
One of the most significant achievements of Australian Genomics has been to strategically build a connected, collaborative national network to enable collective learning, the paper says.