The Advanced Genomics Collaboration: Fast tracking treatment for genetic diseases

The need

In most clinical and hospital settings, patients are treated with standardised, one-size-fits-all care. However, traditional approaches to treatment are not effective for all patients, especially those with the types of cancer that are difficult to both diagnose and treat. Worryingly, two-thirds of cancer patients need multiple rounds of chemotherapies but will not be well enough to undergo ongoing rounds.

“The introduction of new genomic technologies has the potential to completely change the way healthcare is delivered here and across the world”, says Professor Sean Grimmond, who heads up the Clinical Genomics Platform of The Advanced Genomics Collaboration – a partnership between the University of Melbourne and global biotech company Illumina, with support from Invest Victoria.

“In the next couple of years, thanks to advancements in this field, the healthcare system is expected to generate genomic data from an estimated 60 million patients globally, contributing to more targeted, individualised care.”

Professor Grimmond’s hope is to turn cancer into a manageable chronic disease, like asthma or diabetes. “We don’t want people to experience debilitating side effects from treatment that may not work. Taking some of the guesswork out of therapy is the first step towards that goal.”

The partnership

Researchers and biomedical industry experts are working within the Illumina and University of Melbourne partnership to explore genomics-based biomedical innovations. Their aim is to make genomics more affordable and accessible, initially to improve health treatments and outcomes for people with cancer but broadening into a wider range of clinical areas.

The major initiative of the partnership is The Advanced Genomics Collaboration (TAGC). This hub was established with a $60 million investment in 2021 by the University of Melbourne and Illumina with support from the Victorian Government’s Invest Victoria and Department of Education and Training.

TAGC has three core infrastructure platforms. The Clinical Genomics Platform will deliver rapid, affordable sequencing of whole genomes on a scale that provides timely insight for every collaborating researcher and clinician. The Bioinformatics Platform is creating, storing and analysing national and global-scale cloud-based genomic datasets. The Health Economics Platform uses this analysis to provide evidence-based guidance for public policy and further investment to embed genomics in healthcare.

These platforms also provide the infrastructure to foster a pipeline of genomics-focused innovation projects led by researchers within the Melbourne Biomedical Precinct.

The progress

To date, TAGC has supported two innovation projects to completion. The Liquid Biopsy Project, based at the University of Melbourne Centre for Cancer Research, has received full diagnostic accreditation through the National Association of Testing Authorities (NATA) to develop simple, non-invasive genomic-based technologies for more effective blood-based diagnosis of challenging-to-treat cancers.

The second is ID Predict, based at the Doherty Institute for Infection and Immunity, for development of a decision-making tool for COVID-19 that predicts disease outcomes in individual patients and informs treatment pathways.

The outcome

Since establishment of TAGC in 2021, the initiative has supported 11 clinical trials and multiple major studies, including a study into personalised treatment options for patients with cancer of unknown primary origin. To date, 1250 patients with difficult-to-diagnose diseases have been sequenced, including those with cancers that are resistant to standard therapies.

This work has helped leverage over $40 million in funding including $1.9 million for the VCCC Precision Oncology Program to provide a comprehensive toolbox of genomic and molecular tests for clinicians to ensure the right cancer patient receives the right treatment.

In addition, the partnership has created more than 60 new jobs for researchers, scientists, bioinformaticians, genomics assistants and postdoctoral scientists, and supported over 60 student internships and graduate research placements.

People

• Professor and Bertalli Chair in Cancer Medicine Centre for Cancer Research, Sean Grimmond
• Professor Oliver Hofmann, Head of Bioinformatics, University of Melbourne Centre for Cancer Research
• Gretchen Weightman, Senior Vice President Asia Pacific Middle East & Africa (AMEA), Illumina
• Simon Giuliano, Commercial Lead & Sales Director Oceania, Illumina