The DNA test that could change your life
It has the potential to transform how healthcare is delivered in this country - so why is it not more readily available?
Australia is on the brink of a healthcare revolution driven by DNA science that will save lives and prevent disease – but top researchers, clinicians, and patient and advocacy groups are pushing for greater urgency in translating genomic medicine to the clinic and equal access to screening.
An open letter signed by more than 100 leading scientists and clinicians and almost 50 peak health and patient groups has described a crossroads for Australia as genomics advances at a rapid pace with the promise of widely available personalised therapies if there is equitable access to gene testing together with clinical expertise.
“We are living through a once-in-a-century transformation of healthcare, driven by rapid advances in genomic medicine,” the open letter says.
“These advances are already changing outcomes for thousands of Australians each year, and over the next decade they will alter almost every field of healthcare.
“However, unless we move urgently, we risk falling behind. This is not simply an academic matter: this is an opportunity for public leadership, to ensure the advances of genomics do not leave behind our most disadvantaged citizens or exacerbate existing health inequities.
“We believe that all Australians, including those outside major cities, Aboriginal and Torres Strait Islander peoples and multicultural communities, should be able to benefit from the fundamental advances of genomic medicine.
“We must now seize the oncoming transformative advances in healthcare to ensure we are at the forefront of this new field – for the benefit of all Australians.”
Genomic medicine uses genetic screening to identify DNA mutations, and then analyses those variations against massive international datasets to identify disease-causing gene changes. Rapid advances in therapeutics mean it is now possible in some cases to provide personalised medicines that can treat symptoms or even correct disease-causing genetic problems in patients.
The federal government has now moved to cement genomic medicine as a national health priority by committing to the funding and establishment of a new body to drive the translation of breakthroughs in DNA science into the everyday care for patients.
The first task of the body, Genomics Australia, will be to improve access to personalised cancer care.
“Australia stands on the precipice of a revolution in genomic research,” Health Minister Mark Butler said. “We need to make sure Australia can take full advantage of our incredible research, taking it beyond the lab and benefiting patients.
“Genomics Australia will provide that leadership and help drive advances in diagnosis, treatment and health outcomes for all Australians.”
It comes as experts and patient groups call for:
• greater access across the population to genetic screening for treatable or preventable conditions
• equity of access to genomic screening
• national leadership to cement genomic medicine as a key health priority that is integrated into clinical practice at all levels of medicine
• co-ordination across the federation to ensure genomic medicine is a truly national project in all health systems.
Patient and advocacy groups and interested researchers and clinicians can add their names to the open letter by emailing genomicsopenletter@news.com.au
The need for Australia to progress the enormous amount of groundwork the nation has laid for the future of genomic medicine has become a pressing matter for scientists, medical specialists and patient groups as technological innovation moves at a fast pace and many overseas nations advance in implementing genomic medicine to the clinic.
The experts note that many international governments – including those of the US, UK, Canada, China, Singapore, and several European countries – have invested heavily in genomic research programs collectively spanning tens of millions of people, and are now translating these programs into routine healthcare.
One of Australia’s foremost specialists in genomic cancer medicine, medical oncologist David Thomas, has cautioned that while some patients are gaining access to precision medicine as a result of genomics research via clinical trials, others are losing their lives because there is no clear path to widespread access for patients, despite such pathways being available now in other countries.
“I think the time is ripe now for action in this space,” said Professor Thomas, who is head of the Genomic Cancer Medicine Laboratory at the Garvan Institute of Medical Research and chief executive of Omico: the Australian Genomic Cancer Medicine Centre.
“Right now, there are patients, thousands of patients, who I am certain would benefit from being able to simply implement the advances that we’ve got today.
“It’s time for the government to try and work out how to mainstream the best of this area of health innovation and make it available, not through clinical trials, not through cycles of time-limited grant funding, but as something that becomes embedded in standard of care.
“I think we’re certainly at the point where we need to act, not spend more time describing the problem or asking the questions – we need to answer them.”
Professor Thomas, along with the 150 letter signatories, welcomed the creation of Genomics Australia, which was mooted in 2022 and backed by the Albanese government but which has until now had no clear time frame. The new national genomics body will receive its first funding in the mid-year economic update next month and will begin operations next July.
Mr Butler said the body, under an appointed commissioner and advisory committees, will drive national co-ordination and harness expertise across science and medicine to begin to implement genomics across Australia’s complex federated health systems. It will sit within the Federal health department. Genomics Australia will be funded with an initial $30m over four years.
For the past eight years, the national collaboration Australian Genomics – formed to co-ordinate about 100 scientific and medical institutions – has been charged with supporting the translation of genomic research into clinical practice.
Murdoch Children’s Research Institute director and Lead Investigator of Australian Genomics, Professor Kathryn North AC, said Australia had been an international leader in piloting and in demonstrating the value of genomic medicine.
Australian researchers were the first to pilot a national program offering rapid genomic screening to critically ill children in intensive care, providing results in under three days, and influencing precision care in 75 per cent of patients. Australia also had a world first in the use of genomics in reproductive carrier screening to identify couples at high risk of having a child with more than 1000 potentially disabling conditions. Importantly, our researchers have demonstrated that genomic testing is cost effective.
In one study, using genomics lifted the diagnosis rate for children with rare disease from 11 to 55 per cent, at 25 per cent of the cost of the usual diagnostic work-up, leading to the introduction of a designated Medicare item number, and equity of access to testing.
Professor North also leads the Global Alliance for Genomics and Health, a collaborative partnership across more than 100 countries, and has been able to observe Australia’s progress along with many other countries.
“We do leading-edge research,” Professor North said. “But at this point in time we need to focus more on taking it into healthcare. In particular, it is essential that we implement a national approach to our management of genomic and clinical information. We are moving towards this through the formation of the national agency, and there is certainly buy-in and support from the government perspective. But implementing a cohesive national approach to genomics in healthcare should be a priority so that we can maximise the value of this cutting-edge technology.
“We need to celebrate Australia’s leadership in this area. But we are getting overtaken by other countries because we are moving too slowly. Genomics is a rapidly developing field that has the potential to transform how we deliver healthcare. National co-ordination and leadership is essential to drive momentum.”
The open letter calls for expedited and co-ordinated investment in the critical foundations of genetic medicine, such as infrastructure to safely manage genomic data, with linkages in a national network of genetic and clinical databases.
Among the patient organisations that have added their support to the open letter calling for the advancement of genomic medicine published by The Australian are The Breast Cancer Network of Australia, the Prostate Cancer Foundation of Australia, Lung Foundation Australia, Rare Cancers Australia, the Childhood Dementia Initiative, NeuroEndocrine Cancer Australia, Melanoma Patients Australia, Inherited Cancers Australia, and many others.
At the same time the advoacy group the Genomics Coalition is campaigning to make personalised, preventive care accessible to all.
“For too long genomics has remained in the ivory tower of medicine,” said Genomics Coalition co-founder Krystal Barter. “Now, we’re bringing it back to the people and families who need access to this lifesaving technology.”
Breast Cancer Network Australia said the nation’s leaders must unite with patients and the medical and scientific community to progress genomic medicine.
“Coming together with a unified voice is more vital now than ever,” the Breast Cancer Network Australia said. “A fragmented approach simply won’t do. We need collective strength and practical solutions to improve genomics access in cancer across the board.”
Despite genomic medicine promising to slash diagnosis times and more efficiently treat disease, the federal government faces the difficult job of balancing health spending across multiple needy areas – from record surgical waiting lists to chronic disease to incurable cancers.
Genomics is now a massive global industry worth $7.7 trillion worldwide, and scientists argue that advancing it as a branch of medicine would be fundamental to the nation reaping the benefits of this emerging life sciences economy.
In the immediate term, leaders in genomics hold concerns that Australia’s outdated health-funding mechanisms present roadblocks to access to screening and medicines.
The experts also want the nation to begin to move towards a future of preventive medicine driven by genomics, to halt certain life-threatening diseases before they manifest.
“Australia needs to invest in visionary, population-scale programs designed to safely test the value of emerging genomic technologies,” the open letter says. “Millions of Australians should be given the opportunity to participate in research studies combining genomic and healthcare data to explore and optimise the impact of genomic medicine for the prediction of future disease risk and the diagnosis and precision treatment of severe conditions. These initiatives should be designed in partnership with diverse Australian communities to ensure fair representation and benefit.”
Mr Butler said the government was determined to provide that leadership to take advantage of our leading science and take it beyond the lab to benefit patients. “The government has listened to the clear message received through consultation on the need for national leadership and co-ordination to achieve this goal,” Mr Butler said.
“Genomics Australia will provide that leadership and help drive advances in diagnosis, treatment and health outcomes for all Australians.”
Since the mapping of the human genome over 20 years ago, genomic medicine has advanced quickly. Pathologists with specialist machines can now rapidly perform exome mapping or whole genome sequencing, and the cost of some genetic tests has plummeted to just a few hundred dollars. It took 13 years and $3bn in a massive international effort to map the human genome two decades ago. In urgent contexts, this can now be done in an average of three days.
Genome sequencing gives scientists the ability to detect variants, insertions and deletions in a patient’s DNA, and rapid advances in computational data science and artificial intelligence mean it is now possible to compare a patient’s gene changes with mass datasets to determine whether the variants are harmful. Personalised treatments can then some cases made available that are specific to an individual’s disease-causing genetic mutations.
Publicly funded genetic testing is mostly only available in Australia to confirm a diagnosis or to diagnose a limited range of conditions for high-risk individuals. But scientists say it’s time to move to population-based screening for specific common conditions that could save thousands of lives.
“Preventive genomics, or genomic testing for health prevention in adults, will be an absolute game changer, it will save thousands of lives, and we are barely scratching the surface of the capacity to identify these people and provide them with preventive genomic information to change the course of their lives,” said Jane Tiller, co-lead of a preventive adult population screening trial at Monash University known as DNA Screen.
The DNA Screen trial has screened more than 10,000 people for high genetic risk of three treatable or preventable conditions: hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolaemia, which carries a high risk of fatal heart attacks at a young age. Risk of these conditions can be identified by screening just 10 genes, and an astonishing one in 50 people who were screened have been found to have a gene variant that causes these conditions. Importantly, 75 per cent of those high-risk individuals didn’t qualify for testing under current eligibility criteria.
Dr Tiller and DNA Screen lead Paul Lacaze are now pitching for funding to screen 100,000 people with a view to readying the health system for a population-based DNA screening program. According to peer-reviewed modelling, on the basis of screening 50 per cent of the population aged between 18 and 40 just for these three common conditions that cause cancers and heart disease, the screening program would prevent 2612 cancers, 542 heart attacks and would save more than 4000 lives. It would cost taxpayers $832m, and at a cost of less than $400 per genetic screening test would be cost-effective for the government.
“There’s nothing new about this knowledge that we have about these genes and the risks and the lifesaving potential of it,” Dr Tiller said. “But the big difference now is that the cost has come down dramatically, and the innovative methods to allow this to be a screening program for the whole country have become available in the past decade. We have the capacity to ship these kits all over Australia. We should be offering this to everybody.”
Professor Lacaze said there was no time to waste. “We should be doing this now,” he said. “It’s time. We know it’s going to work, the evidence is there. We know it’s going to be cost effective. There’s a huge public demand. Really, we have to get our skates on and deliver on the promise of genomic medicine for patients.”
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