Genomic medicine is a rapidly evolving field of medical science that allows healthcare professionals to examine an individual’s entire DNA – the genome – and use this information to help seriously unwell patients achieve quicker, more accurate diagnosis and more personalised medical care.
It can change outcomes. It can improve treatment. It can save lives.
In what has become known as the 'Melbourne Genomics model', we focus on bringing global knowledge to individual care through:
- Producing real-world evidence for the optimal use of genomic testing in patient diagnosis and care
- Developing doctors and scientists who are able to apply genomics in their work
- Gathering feedback and learnings from patients, doctors and researchers
- Establishing new, integrated systems to support genomics in practice
- Connecting the dots – between researchers and health professionals, health disciplines and community
The Melbourne Genomics members have led the way nationally as early adopters and drivers of healthcare change – placing Victoria at the forefront of genomics in Australia and internationally.
From 2014 to 2015, Melbourne Genomics ran a Demonstration Project to investigate the usefulness of genomics for a specific number of diseases and to test the effectiveness of our model for change.
Results from this Demonstration Project informed Melbourne Genomics' current phase of work (2016 to 2020), in which genomic testing has been made available to more patients with different medical conditions, in tandem with their usual care.
All 11 of these clinical projects are now completed: 19 times more people received informative results through genomic testing, and 9 times more of those tested received better targeted care based on their results.
The Alliance has built a strong foundation for Victoria to embrace genomic medicine by:
- Assessing the impact of genomic sequencing for patients in 16 different disease areas
- Building genomic knowledge and experience among healthcare professionals
- Establishing Alliance-wide systems to support genomic sequencing in practice for the benefit of patients, doctors, laboratory scientists and medical researchers.
Melbourne Genomics' comprehensive, patient-centred model for bringing genomics into healthcare has since been adopted nationally throughthe Australian Genomics Health Alliance and in Queensland through the Queensland Genomics Health Alliance. Melbourne Genomics is working in concert - and sharing our knowledge and experience - with genomics alliances across Australia.
Our clinical projects
Improved patient care is at the heart of Melbourne Genomics' endeavours.
Internationally, there has been a dearth of evidence to guide the cost-effective use of genomics in clinical care. Previous studies have been retrospective: that is, they show the value of 'catching up' on testing patients who have already been extensively investigated, often for many years. We are the first to look prospectively, examining outcomes of genomics compared to usual investigations head-to-head.
Patients who participated in a Melbourne Genomics Clinical Flagship project received a genomic sequencing test in parallel with their usual care. By comparing outcomes of these two approaches, we can identify cost-effective patient care so the right patient receives the right test at the right time. This real-world, real-time way of working is designed to provide evidence to guide policy and clinical decision-making.
Our Alliance ran a total of 16 Clinical Flagship projects over six years - from 2014 to 2020. The diversity of our projects highlights the breadth of clinical conditions where care may be improved by genomics, as well as the enthusiasm of clinicians from many disciplines. This range of very different conditions – spanning adult and paediatric medicine and bacterial analysis – also allows optimal evaluation of genomics’ effectiveness broadly in practice.
Every clinical project has had to break new ground by establishing and then continuously improving workflows and processes for genomics to be incorporated into patient care. This is setting the precedent for future, larger-scale application of genomics within the healthcare system in Victoria.
The five areas of focus from 2017 to 2020 were:
- Bone marrow failure (published results)
- Controlling superbugs
- Complex neurological and neurodegenerative diseases
- Genetic kidney disease (published results) - read Bree's story
- Perinatal autopsy
The six areas of focus during the period 2016 to 2018 were:
- Dilated cardiomyopathy (published results)
- Congenital deafness (published results)
- Complex care in children (published results)
- Advanced non-Hodgkin lymphoma
- Advanced solid cancers - read Michael's story
The five areas of focus during the Demonstration Project, 2014-2015, were:
- Childhood syndromes (published results)
- Focal epilepsy (published results)
- Hereditary neuropathies (published results)
- Acute myeloid leukaemia
- Hereditary colorectal cancer
Melbourne Genomics is providing the results of our work to the Victorian Government to inform healthcare planning and resourcing.