Almost 4,000 patients with specific medical conditions have received genomic sequencing, in tandem with their usual care, since Melbourne Genomics commenced.
In the first program (2016 to 2020), more than 3,500 patients received genomic testing, for one of 11 medical conditions; a further 315 patients were tested for one of five conditions during the Demonstration Project (2014 to 2015). Recruitment for all clinical projects is now complete and all patients have received their genomic results.
Overall, 19 times more patients received informative results through genomic sequencing, compared to usual care for their condition. More than four in every 10 patients tested for cancer or rare disease received informative results; more precise care was the outcome for half of those with informative results.
Through 11 clinical projects in the current program, we investigated whether genomic testing could provide:
Quicker and more accurate diagnosis, leading to better care for:
- Adults and children with defects in their immune systems
- A genetic heart condition that, if left untreated, can result in heart failure
- Infants and children who are unwell (some in intensive care) due to a complex medical problem likely to involve two or more body systems
- Adolescent and adult patients with complex neurological and neurodegenerative disease
- The genetic causes in infants diagnosed shortly after birth with severe deafness
- Adults and children with genetic kidney disease
More precise diagnosis and treatment for:
- Better identification and control of superbugs among Victoria’s most vulnerable patients
- Better understanding of the cause of a patient’s bone marrow failure, enabling more personalised medical care and improved identification of relatives at risk
- Better understanding of the cause of multiple abnormalities in babies who die in utero or early in infancy
Patients with particular conditions were invited to participate through The Royal Melbourne Hospital, The Royal Children’s Hospital, Peter MacCallum Cancer Centre, Austin Health and Monash Health.
Teams of doctors, genetic counsellors, health service researchers and scientists from across the Alliance are now evaluating patients' outcomes and experience to determine the impact genomics can have on medical care.
Melbourne Genomics is providing the results of this work to the Victorian Government to inform healthcare planning and resourcing.
Genomic data and information systems
A core component of the Melbourne Genomics program 2016 to 2020 was to implement a common system for the management of clinical genomic data. It was envisaged that this system (called GenoVic) would support genomic testing across multiple organisations and, in doing so, would support the integration of genomic medicine into routine clinical care.
Designed and built by Melbourne Genomics, GenoVic underpins the genomic testing process – taking data off the sequencing machine, through analysis, interpretation and to a clinical report – and providing secure data storage.
GenoVic is now supporting test delivery at four Melbourne Genomics member organisations – Victorian Clinical Genetics Services, The Royal Melbourne Hospital, Monash Health, the Australian Genome Research Facility – and one laboratory external to the Alliance. The GenoVic shared system enables management and use of genomic data by laboratories, clinicians, patients and researchers – and we believe it is unique in design and scope.
For more on GenoVic, explore our project portfolio here.