Genomic partnership delivering life - changing insights

01 March 2024

In 2016, genomic sequencing was gaining traction across the country. With exciting insights being uncovered across the country, the need for an established network became apparent. Fueled by a $25 million grant, the Australian Genomics Health Alliance (now Australian Genomics) was founded. Their goal: to create a network of researchers, clinicians, organisational partners, and investigators to help bridge the gap between genomic research and its clinical application.

At the same time in South Australia, SA Pathology’s Professor Hamish Scott helped assemble a meeting of like-minded individuals from across the country, with an aim to merge their efforts, thereby amplifying their collective impact for advancement and standardisation in the delivery of genomic healthcare.

As a member of the Australian Genomics National Steering Committee, Hamish, along with other Grant Program leads, applies his expertise to drive the scientific strategy, engagement, coordination, and coherence of Australian Genomics.

From the outset, Australian Genomics grew rapidly. Their coordinated network, spanning across Australia, founded flagship projects focused on rare diseases and cancers, data management, evaluation, and education. These initiatives were driven by collaboration, with a focus on patient benefit and translation.

The real impact, however, extends far beyond the walls of research labs. With every new piece of data added to their ever-growing national database, the long and sometimes arduous journey towards diagnosis for patients with rare diseases (approximately ten years) is beginning to shorten.

Australian Genomics aims to dramatically reduce this agonising diagnostic period by building a robust library of genomic data sets, consolidating genomic research learnings and outcomes, driving policy development and implementation, and expanding workforce and community engagement and education; all focusing on paving the way for genomic healthcare to become standard-of-care.

Over the years, SA Pathology has benefited enormously from its partnership with Australian Genomics, with research collaborations contributing significantly to better patient care. SA’s own Genomic Autopsy Study became a national entity through its collaboration with Australian Genomics. The latter’s established clinical and operational networks enabled Australian couples who had experienced pregnancy loss to access these networks for genomic testing.

Together, we are also actively involved in the NewbornsInSA project, a groundbreaking initiative aiming to pioneer the world's first newborn screening using integrated multi-omics. This research seeks to close the gaps in existing screening programs, paving the way for faster, more comprehensive results, tailored treatment plans, and peace of mind for South Australian parents.

The future holds exciting possibilities genomic medicine in Australia. Discussions are underway for a new entity, Genomics Australia, to be introduced mid-2025 to build on the achievements of the past decade.

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