A report released today by the Australian Council of Learned Academies (ACOLA) says that precision medicine has the potential to transform Australia’s health care system.
Precision medicine combines knowledge of a person’s unique genetic makeup, protein levels, and their environment to allow accurate disease prevention and treatment tailored to individual needs.
To date, the main focus has been in well-supported clinical areas, such as cancer, and ‘rare’ single-gene disorders which are a cause of intellectual and physical disability in children.
However, The future of precision medicine in Australia report says that opportunities to improve health outcomes for complex disorders, such as diabetes and cardiovascular disease are equally exciting.
“With careful planning, advances in precision medicine and the technologies that support it will offer great value for the health of all Australians. Precision medicine is the personalised medicine of the future,” said the chair of the ACOLA expert working group, Professor Bob Williamson.
Australia’s Chief Scientist Dr Alan Finkel, who commissioned the report on behalf of the Commonwealth Science Council, said it was a roadmap to a better health system for the nation.
“The essence of this report is optimisation: the optimisation of public policy for individual care. It provides the intellectual framework for a healthcare revolution that will shape the lives and choices of all Australians,” Dr Finkel said.
The report sets out how precision medicine will build on the strong tradition of medical research in fields such as immunology, genetics, vaccine development, bionics and imaging in Australia. It explains where precision medicine is likely to go over the next five to ten years. The report also notes that the technologies that underpin precision medicine are also of great value to other fields such as agriculture and the environmental sciences, where there is a high level of skill and commitment in Australia.
However, the report also warns that precision medicine could lead to genetic discrimination, or continue inequality of access to health care. Ensuring benefits to everyone in Australia will require ethical thought and planned implementation.
The forward-looking report has nine key findings, and is the second in the horizon scanning series. It was funded by the Federal Department of Health.
“By working in close partnership with the Chief Scientist and government departments, and bringing together some of Australia’s best minds, from many disciplines, ACOLA is able to provide evidence on priority issues for Australia to inform policy and guide opportunities,” said ACOLA President, Professor Glenn Withers.
The launch was attended by patient Louis (4), who has benefited from precision medicine, and his parents Amy and Martin. Louis was diagnosed with a severe condition at just five months old, which comes under the umbrella term of ‘Leigh’s Disease’. A comprehensive genomic analysis of his DNA allowed doctors to isolate the gene which had produced Louis’ illness, and develop a treatment regime.
After 10.30am on Wednesday 31 January, the full report can be found at www.acola.org.au
Penny Underwood on (03) 9818 8540, 0409 925 299 or firstname.lastname@example.org
Expert Working Group
Professor Robert Williamson AO FRS FAA FAHMS (Chair)
Professor Warwick Anderson FAHA FASSA FAHMS
Dr Stephen Duckett FASSA FAHMS
Professor Ian Frazer AC FRS FAA FTSE FAHMS
Dr Carrie Hillyard FTSE
Professor Emma Kowal
Professor John Mattick AO FAA FRSN FAHMS
Professor Catriona McLean FAHMS
Professor Kathryn North AM FAHMS
Mr Adrian Turner
Background on Louis and his mother Amy Clarke
Amy and her husband Martin have three children – Noah (aged 10), Nina (9) and Louis (4). Their youngest child, Louis, was diagnosed with a severe condition at just five months old, which comes under the umbrella term of ‘Leigh’s Disease’.
Leigh disease is a rare (1 in 40,000) genetic condition that is caused by a defect in the cellular aerobic energy pathway, leading to developmental delay, low muscle tone, seizures and resulting in a progressive decline in neurological function. Mutations in a number of different genes can cause Leigh disease, but there is no cure and for most forms of the disease there is no specific treatment.
Amy said she and her husband were devastated to learn that their baby boy’s condition would worsen with time. “We were told he was unlikely to survive more than a few years.”
In June 2014, Louis’s family were contacted about the possibility of being involved in a research study that hoped to find the genetic basis of Louis’s condition. A comprehensive genomic analysis of his DNA led to a likely cause of Louis’s condition to be discovered. They isolated the gene which had produced Louis’ terrible illness and it was a gene mutation that responds to treatment!
Although this is a very new area of study, the researchers and doctors are confident that Louis’ condition is no longer terminal. Whilst the damage Louis has sustained to his brain is irreparable, careful and consistent medication should ensure he doesn’t experience any further damage.
“Precision medicine has changed our family’s life and we will be forever grateful,” Amy said.