Since 2014, Melbourne Genomics Health Alliance has provided genomic sequencing to almost 4,000 patients across 16 disease areas.
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 2019. 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 2019 were:
- Bone marrow failure
- Controlling superbugs
- Complex neurological and neurodegenerative diseases
- Genetic kidney disease - 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
For all published results (peer-reviewed journals), see our Publications page.