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New Victorian alliance to unlock genetic disease secrets
11 February 2014
team (L to R): Ms Michele Cook, Dr Natalie Thorne,
Mr Tim Bakker, Dr Clara Gaff, Mr Ivan Macciocca
Truly personalised healthcare is one step closer to becoming a reality for Victorians and Australians, with the launch of the Melbourne Genomics Health Alliance today.
The alliance combines the strengths of seven Parkville precinct organisations, working towards the one goal of integrating genomic information into everyday healthcare.
Dr Gareth Goodier, head of the alliance’s chief executive officer (CEO) group and CEO of The Royal Melbourne Hospital, said genomics represented a new and burgeoning era of medicine, with endless possibilities.
“Healthcare need no longer take a ‘one size fits all’ approach,” Dr Goodier said. “Genomic sequencing allows us to identify when a person’s genetic building blocks are stacked slightly differently in sections to those of the average person. With new technologies making it possible to gather large amounts of genetic information quicker and cheaper than before, genetic information is increasingly influencing diagnosis and care.”
In simple terms, genomics is the simultaneous analysis of the genetic information contained in the DNA in each cell of our body. Collectively, this information is known as our genome. By sequencing the DNA in our genome, it is possible to identify variations responsible for causing disease.
“Armed with this information, we can investigate whether certain DNA variations are responsible for causing disease. With further research we hope to support more accurate diagnosis and prognosis, identify patients at greater risk of disease or complications, and select and prioritise therapy in the prevention and control of infection outbreaks,” Dr Goodier said.
The alliance brings together some of the very best health, research and education organisations in the state – Melbourne Health, the Royal Children’s Hospital, The University of Melbourne, Walter and Eliza Hall Institute, CSIRO, Murdoch Childrens Research Institute and Australian Genome Research Facility.
By joining forces, these organisations will contribute to a seamless, translational effort: hospital patients with genetic conditions can have their genome sequenced by scientists; researchers will analyse the genomic information obtained and initiate further research into genetic diseases and treatments; and research findings will inform evidenced based improvements to the clinical care provided to patients.
Genomic data will be accessible to clinicians at each of the alliance member hospitals, across a patient’s lifecycle. Researchers will have ethical access to genome data and a clear pathway for translation of their research discoveries into clinical care.
While genomic sequencing requires innovative science and cutting edge technology, the alliance prides itself on being clinically led. A precinct-wide community advisory group has been established – a Victorian first – to ensure ‘the patient’ always comes first.
Liat Harrower, alliance community advisory group member, said the alliance was an exciting step towards ensuring that this technology is made available to the public. “Ultimately, it is the individuals and families who will benefit from the field of genomics, and so it makes sense that we as consumers help design the system to access this technology,” Liat said.
One family who stands to benefit from the alliance’s achievements is Donna Beckhurst and her two daughters Chloe, nine, and Hannah, four. Donna, Chloe and Hannah all have the same neuropathic genetic condition, which causes extreme muscle weakness. But, despite a lifetime of hospital management, very little is known about the condition and how it can be treated.
“We still don’t 100 per cent know what condition we have,” Donna said. “We know we have something, we know it’s a muscle weakness that makes climbing stairs impossible for me and keeping up with other children a challenge for Chloe and Hannah, but it would be nice to have some answers. Hopefully, this alliance can find answers for our family, and those answers can benefit other families experiencing the same unknowns as us,” she said.
The alliance has commenced recruiting patients for phase one of the project. Once this phase is complete and evaluated, a plan for implementation and funding of the alliance’s full vision will be developed.
The alliance is a collaboration between:
Further information:
Liz Williams
Media and Publications Manager
P: +61 3 9345 2928
M: +61 428 034 089
E: williams@wehi.edu.au