GROWING PAINS INVESTIGATES: GENETIC TESTING
AUSTRALIAN PATIENTS TO BENEFIT FROM GOVERNMENT FUNDING OF GENOMIC RESEARCH
LINDA HOANG |16 JUNE 2018
The Federal Government has announced it will invest $500 million towards the Australian Genomics Mission over the next ten years.
​
The announcement in the 2018 Budget will allow funding for research into better genetic testing, diagnosis and treatment to better the lives of two hundred thousand Australians.
​
Lead of the Australian Genomics Health Alliance, Professor Kathryn North, said “This amazing investment from the government will be a game changer and is basically going to be making us one of the international leaders. This is a very exciting area because it’s really going to dramatically change how we conduct healthcare.”
​
Over the next six months an advisory committee formed by government and health industry partners will map out objectives to be rolled out.
​
The Genomics Mission will implement new clinical studies and the application of genetic technologies to benefit patients.
​
“Genomics is going to transform what we do in the in the health system from waiting for a disease to happen and trying to do something about it, which is often expensive and doesn't work very well, to us identifying early risks and aim at prevention and early intervention,” said Professor North.
​
One highlighted benefit of the Mission will be the use of genomic testing in an acute setting.
​
Professor North said “We can take genomics into the intensive care setting where we have a critically ill child, that we think it is likely they have a genetic disorder There is no controversy around it, it’s cheaper and gives certainty to those families about their child's diagnosis and it also gives them also information about the child’s future.”
​
Director of the Centre for Health Economics Research, Professor Rosalie Viney, said “I think that an investment in genomic research by the Australian government is reasonable but is important to understand there are many steps between investment in genomic research and improved health outcomes for the population. “
“We are looking across a whole range of disorders like epilepsy for example, or heart disease or lung disease where we should get the evidence to say genomics is the best test to do and the most cost effective. Because that makes the case that this should be available in the health system,” said Professor North.
Genome.One, Australia’s first private clinical genomics service, became available to patients in March 2018 and has made genomic counselling more accessible.
Professor Viney said the benefit of genetic services being available to the public without medical counselling prior to such treatment needs to be considered.
“The value of the information to the individual depends very much on how they understand it and what they are able to do with this information.”
A patient with a rare genetic muscular dystrophy, Sam Vaughan, said “Previously my test could only be done in Western Australia. It was to confirm diagnosis of the condition and was more accurate and intrusive than a muscle biopsy but it cost $2000 with no rebates so it was not very accessible or affordable for most people. There is no treatment available but the test means I know the cause.”
Professor North said, “There is so much work and we have a national network of clinicians and laboratories working together to provide an enriched genes discovery for studying why a certain genetic defect leads to a disease and how we develop new therapies and new drugs.”