A ‘world of knowledge’ to help Australian doctors better diagnose inherited diseases

UMCCR investigator, Associate Professor Oliver Hofmann, is part of a new global 'learning health system' that will enable researchers to share genome sequencing data to investigate and diagnose genetic disorders, and ultimately pave the way for equitable delivery of genomic medicine.

Australian Genomics has been named a key Driver Project for the Global Alliance for Genomics and Health (GA4GH), recognising Australia’s leadership in integrating genomics into healthcare.

Australian Genomics is one of 13 national genomic medicine initiatives, including Genomics England and the US All of Us program, to be selected by GA4GH as Driver Projects. These will pilot GA4GH data sharing frameworks and standards in real-world healthcare settings, and share their experience and knowledge in integrating genomics into clinical practice.

GA4GH made the announcement overnight as part of the launch of its new five-year vision to fully realise the promise of genomic medicine.

Currently, genomic data generated within individual research and clinical programs are stored in databases that aren’t connected to each other.

By 2022, the GA4GH expects tens of millions of genome sequences to be available from genomic research and clinical care, spanning many nationalities and ethnicities.

GA4GH believes researchers and clinicians have an opportunity and a responsibility to exchange this wealth of data as part of a global ‘learning health system’ to collaboratively investigate, and diagnose, genetic disorders.

Australian Genomics — initially targeting rare disease and cancer— is building the evidence and piloting solutions for the effective and equitable delivery of genomic medicine in Australia.

As a Driver Project of GA4GH, Australian Genomics will inform approaches to global data sharing and beyond.

“The GA4GH brings together a world of knowledge for the benefit of the individual patient. By linking together national initiatives that are implementing genomic medicine into clinical practice, we can share our experience and expertise to accelerate progress toward the very best healthcare”, said Professor Kathryn North AM, Lead of Australian Genomics, Vice Chair of GA4GH, and Director of the Murdoch Children’s Research Institute.

“I’m delighted that Australian researchers are, once again, right in the mix of a major international endeavour to improve health care for all.

Federal Health Minister, the Hon/ Greg Hunt, said, "The coming together of a global genomics community enhances our medical and scientific expertise, fosters innovation, and unlocks the potential of genomic medicine — and the beneficiaries are Australians”.

Australian Genomics is made up of more than 70 Australian healthcare and research institutions, including the clinical and laboratory genetics services in each state. Many of its experts are leading key areas of work under the new GA4GH vision.

Associate Professor Oliver Hofmann, Head of Bioinformatics at the University of Melbourne Centre for Cancer Research and an Australian Genomics investigator, said:“By aligning Australian Genomics activities with GA4GH recommendations we can coordinate large scale genomics efforts with this international community and accelerate the rollout of personalised medicine in Australia”.

About Australian Genomics: Australian Genomics is an NHMRC-funded research collaboration of more than 70 organisations committed to integrating genomic medicine into healthcare in Australia. Our goals are to improve diagnostics, enable early intervention and support equitable access to genomic medicine. Our research is developing the knowledge to translate genomic technology sustainably into clinical practice so patients and their families benefit.

About GA4GH: GA4GH is an international, not for profit alliance formed to accelerate the potential of genomic medicine and research to advance human health. Bringing together 500+ leading organisations working in healthcare, research, patient advocacy, life science, and information technology, the GA4GH community is framing policy and developing standards to enable the responsible, voluntary, and secure sharing of genomic data.