Advances in genomic technology have delivered opportunities for newborn screening, diagnosis of rare diseases, population-wide preventive health screening, precision medicine and pharmacogenomics, but is Australia moving fast enough in all the right directions?
Along with other transformative technologies in healthcare such as generative AI, telehealth, wearable devices and predictive machine learning, the challenges in genomics are as much in the implementation as they are in its development.
Leaders in the field shared their assessments with the limbic.
Big picture thinking
Professor David Thomas
Professor David Thomas, inaugural Director of the Centre for Molecular Oncology at UNSW and Chief Science and Strategy Officer of Omico, said the Australian healthcare system was excellent but was not designed to absorb scientific advances at the pace they were now arriving.
“The 19th and 20th century models of care aren’t serving us in an era where scientific advances are coming thick and fast,” he said.
Omico’s flagship PrOSPeCT program received a $71 million federal budget boost to continue comprehensive genomic profiling for patients with advanced or incurable cancers, linking them to matched therapies or clinical trials through to mid-2028. Demand was growing fastest among patients with rare cancers and those in regional and remote areas, Professor Thomas said.
He argued genomic implementation should be framed as an economic opportunity, not just a health expenditure.
“I would really like to see us consider advances in science being introduced in healthcare as an opportunity to grow the Australian economy and create jobs of the 21st century,” he said.
Workforce was a pressing constraint. Tumour profiling was already identifying hereditary cancer risk in about one in 12 patients, creating downstream demand for genetic counselling that the current workforce could not meet.
“We’re going to have to almost double the size of our genetic counselling workforce to handle the identification of people at risk of cancer, simply from the tumour profiling that we’re doing today,” Professor Thomas said.
He also called for upgrades to both undergraduate and postgraduate education to bring oncologists up to speed with genomic medicine.
| “If I was a young oncologist today, I’d be thinking this is the place to invest my time, because it’s such an exciting area. It has so much promise for patients; it’s very rewarding.” Professor Thomas |
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Not too fast, not too slow
Dr Jane Tiller
Dr Jane Tiller, senior research fellow at Monash University’s School of Public Health and Preventive Medicine, said the central challenge in genomic implementation was getting the pace right.
“If you move too fast, you do break things, and when you’re talking about health technology, the things that break are significant and have consequences and harms attached,” she said.
“However, if we move too slowly, we do not innovate and we fall behind.”
A 2025 report co-authored by Dr Tiller [link here], based on a survey of more than 100 genetic health clinicians, researchers, consumer advocates and other stakeholders, identified equity as the number one perceived barrier to genomic implementation. Respondents flagged inconsistent access for people in rural and remote areas, Aboriginal and Torres Strait Islander peoples, culturally and linguistically diverse communities, and those experiencing socioeconomic disadvantage.
Lack of genomic education for non-specialist clinicians was the other major barrier. Dr Tiller argued this should not be used as a reason to delay progress.
“No health system ever has generated a workforce to sit around waiting for scale,” she said. “We need to move forward in a way that is measured and that doesn’t break the system.”
Dr Tiller, a member of the Genomics Australia Advisory Council, said national coordination was essential, and welcomed the establishment of Genomics Australia within the Department of Health. Cancer Australia’s National Framework for Genomics in Cancer Control, released last year, was a positive step, she said, but genomics extended well beyond oncology.
One less barrier
One longstanding deterrent to genomic participation was addressed this year with the passage of the Treasury Laws Amendment Genetic Testing Protections in Life Insurance and Other Measures Act 2026 [link here], which from October will ban life insurers from discriminating against people on the basis of genetic test results.
Dr Tiller said fear of life insurance consequences had been a well-established deterrent to participation in genomic screening programs and research at a population level.
“The fact that we have finally now in 2026 got this law actually creates an opportunity for government: let’s stop dithering and get going with offering this kind of testing to the population,” she said.
The legislation will apply only to new policies, not existing contracts. Health insurance has long been protected from genetic discrimination in Australia.
Preventive genomic screening
Dr Tiller co-leads the DNA Screen project at Monash University, which is making the case for population genomic screening for genes linked to hereditary breast and ovarian cancer, Lynch syndrome and familial hypercholesterolaemia.
A pilot study reported in Nature Medicine [link here] earlier this year screened more than 10,000 adults aged 18 to 40 across Australia for 10 high-risk genes using mailed saliva samples. Traditionally under-represented groups were invited preferentially.
Results returned within around 13 weeks found 2.0% of participants carried pathogenic or likely pathogenic variants. Dr Tiller said that figure had significant public health implications.
“If you think about the whole adult population, that’s tens of thousands of people who are likely to be high risk,” she said.
Of those who attended follow-up clinical genetics or lipid services after receiving a positive result, 80% were the first in their family to have such a variant identified. Most would have been ineligible for government-funded genetic testing under current criteria.
Dr Tiller argued that failing to fund genomics for disease prevention was a significant policy shortcoming.
“I think not funding the use of genomics for disease prevention is a real failure of government,” she said. “The government just needs to make some of those hard decisions about investing in things that won’t pay off for a few years.”
Pharmacogenomics
Professor Rachel Conyers
Professor Rachel Conyers, paediatric oncologist at the Royal Children’s Hospital Melbourne and Murdoch Children’s Research Institute, said pharmacogenomics remained underappreciated relative to its clinical and economic impact.
“I would argue that it is a core part of precision medicine. It really does impact quality of life, and there’s a huge economic component to it as well, with patients being readmitted or staying longer in hospital,” she said.
Two Medical Research Future Fund grants in 2023 and 2025 had enabled significant progress, she said. The 2023 grant funded MARVEL-PIC, a national randomised controlled trial across nearly all Australian childhood cancer institutes that preemptively examined pharmacogenes and provided prescribing guidelines. Results were being analysed, but pharmacogenomic data was made available to clinicians for 85% of enrolled children.
MBS funding had focused on pharmacogenes such as DYPD and TPMT affecting cancer therapies, but Professor Conyers said CYP2D6 was the more clinically consequential target.
“It metabolises most drugs that people take, and, most importantly, it metabolises all of the anti-vomit medications that we use in supportive care. The savings from actually getting that right would be enormous,” she said.
Professor Conyers, who chairs the Australian Paediatric Pharmacogenetics Oncology Network for Drug Safety (AUS-POND), said a key advantage of pharmacogenomic testing was that it was a one-off cost, as pharmacogenes did not change over a lifetime.
Her vision was for a universal pharmacogene passport that patients could take to their GP, paired with clinical data on renal and cardiac function and concomitant medications, with AI-assisted personalised dosing calculators. The 2025 MRFF grant was already supporting the development of large databases and AI transformer models to work toward that goal.
She also called for an Australian equivalent of Genomics England’s research environment, which linked genomic data with clinical records from more than 140,000 individuals.
Professor Conyers and colleagues recently updated the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 genotype and use of 5-HT3 receptor antagonists in cancer-related nausea and vomiting [link here].
| “I think we’ll get to a point where everybody has a kind of pharmacogene passport, and then they take that to their GP and the GP knows how to use it.” Professor Conyers |
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Genomic newborn screening
Professor Zornitza Stark
Professor Zornitza Stark, paediatric clinical geneticist at the Murdoch Children’s Research Institute, said the field was shifting from diagnosis toward screening, with the goal of identifying babies with rare diseases before they became unwell.
Standard newborn screening had covered around 30 conditions for 60 years. Genomic sequencing could extend that to hundreds of conditions, and the expansion of precision treatments for rare diseases over the past decade made the case more urgent, she said.
MCRI’s BabyScreen+ study [link to gene panel here] consented 1,000 Victorian parents to have their infant’s heel prick sample screened for more than 600 genes linked to serious but treatable childhood-onset conditions.
The study published in Nature Medicine [link here] identified 16 infants with conditions including G6PD deficiency, Marfan syndrome, mitochondrial nonsyndromic sensorineural hearing loss, hereditary haemorrhagic telangiectasia type 1, DICER1-related tumour predisposition, glycogen storage disease IXb, and familial haemophagocytic lymphohistiocytosis.
Only one case was also detected by standard newborn screening.
Cascade testing in first-degree relatives led to additional diagnoses in 12 parents and eight siblings, none of whom had been previously suspected of having a genetic condition.
Parental acceptability was high. Most participants said they would choose genomic newborn screening again, would recommend it to others, and believed it should be publicly funded and universally available.
Professor Stark said Australia had been world-class at generating evidence, but the gap between research and funded implementation remained the central frustration.
“Most of the frustration has come from the gap between generating that evidence, then being able to have it funded and implemented through the healthcare system once these research studies are finished,” she said.
The second challenge was scalability. Moving from 1,000 infants over 16 months to 300,000 per year would require substantial infrastructure investment, workforce planning and health economic modelling, she said.
“We’ve been very good at running pilots. But how do you take a successful pilot and then scale it throughout the healthcare system? That’s the other missing piece at the moment.”
Professor Stark called for a national vision that aligned federal and state governments on policy settings to enable system-wide implementation beyond individual centres of academic excellence.