Genomics shows clear gains but national policy falls short of scaling strategy

The healthcare sector has largely moved beyond debating whether preventive health and precision medicine can improve outcomes. Instead, the focus has shifted to the funding and policy frameworks needed to scale these models sustainably and equitably, a complex challenge examined by experts at the PTA Congress panel session.

The 2026-27 Federal Budget provided several positive signals for genomics and precision medicine. Yet, it stopped short of a national implementation strategy for mainstreaming genomics into routine clinical care.

Drawing on findings from the Zero Childhood Cancer Program (ZERO), A/Professor Tyrrell, Program Leader of Zero Childhood Cancer at the Children’s Cancer Institute and member of the Evaluation Subcommittee (ESC) in the Medical Services Advisory Committee (MSAC), said genomics is revealing a much greater prevalence of inherited cancer risk than previously understood.

“The genomics is forcing prevention into the system. The data is already here and we just need a learning health system to be able to integrate what we’re finding right now,” said A/Professor Tyrrell. “Precision medicine isn’t a test, it’s a system. We need to build something for the future that will allow that to happen. Prediction and prevention is the holy grail.”

Yet despite advances in science, several panellists argued that Australia’s healthcare system remains overwhelmingly focused on treating disease rather than preventing it.

“It’s ground house day. Doesn’t matter how good a job you do, the same things keep coming through the door,” said Dr Stephen Lu, Co-founder and Chief Medical Officer of Everlab. “A healthy person has 1,000 wishes, but a sick person only has one. Health is actually beyond the absence of disease, it’s wellness.”

Reflecting on his clinical career, Dr Lu said preventable illness remains a constant feature across every part of the system.

“I left because I was always looking for where the upstream problem. We are not transforming towards prediction and prevention hard enough. We have a sick care system and we need urgent transformation,” said Dr Lu. “I worry that we’re like the boiling frog. There is a slow train wreck coming with aging population and growing chronic disease.”

Dr Lu argued that inequity already exists because proactive and preventive healthcare is often only accessible to those who can afford it. He also suggested that attempts to delay implementation until universal access can be guaranteed risk entrenching a two-tier system.

“That’s how you force a two-tiered system because then people say I’ll just access this privately,” said Dr Lu. “The solution has to be reducing costs. From my point of view, the silver bullet is technology.”

Western Sydney GP, Dr Kean-Seng Lim, said funding models must support not only care delivery but also the transformation process itself. Such models need to facilitate change while remaining sustainable, despite the difficulty of shifting established behaviours. They also require upfront investment to enable implementation, followed by ongoing funding to sustain change, including support for non-face-to-face clinical activities.

A/Professor Tyrrell argued that current health technology assessment (HTA) frameworks are poorly suited to evaluating preventive and genomic medicine. While bodies such as MSAC and the Pharmaceutical Benefits Advisory Committee (PBAC) advise governments on funding diagnostics, medical devices and medicines, existing assessments remain heavily focused on treatment after disease has already been detected. The HTA processes typically evaluate interventions over relatively short time horizons and often focus on single treatments. Precision medicine and genomics, however, involve broader and longer-term impacts that do not fit within traditional assessment models.

“Prevention is a much longer end game and it’s very difficult to measure the benefit because it’s not visible. It’s a little bit like asking whether the fire service needs to prove how many houses it saved simply by existing,” explained A/Professor Tyrrell. “It’s not about ignoring an HTA, it’s actually about asking new questions, different questions, and how we establish those.”

For Tiff Boughtwood, Australian Health Genomics Commissioner at Genomics Australia, one of the greatest challenges is maintaining long-term policy commitment.

“A lot of preventive policy and strategy outlives policy cycles and political cycles, so it takes that national commitment and a much more top-down approach,” said Boughtwood.

Boughtwood pointed to the rapid uptake of genomic screening tests, noting that the triple screen test and reproductive carrier testing now account for approximately a quarter of funding for genetic and genomic tests under the Medicare Benefits Schedule (MBS). Around 150,000 of these tests are ordered annually, demonstrating extraordinary demand. However, expanded testing panels can cost between $1,000-$2,000 out-of-pocket, creating significant inequities in access.

Genomics Australia continues to advocate for genomics to become embedded across the healthcare system, although Boughtwood acknowledged that achieving this requires sustained bipartisan support.

“As policy makers, we need to be very careful. When we’re moving to screening programs, how do we ensure that all Australians benefit, and not just the few that do understand the power of preventive healthcare or can afford it?” posed Boughtwood.

Early results from Zero Childhood Cancer Program showed a doubling of two-year progression-free survival. More strikingly, two-year progression-free survival was five times greater when patients received precision-guided treatment compared with novel targeted therapies delivered without genomic or precision guidance.

“That’s the most compelling piece of data that we found. There has to be really clear national intent for equity,” said A/Professor Tyrrell. “There has to be defined prioritisation and a guaranteed pathway to scale. It is potentially more equitable than not doing it at all.”

Successful national adoption would depend on comprehensive transition planning and investment in supporting infrastructure. However, she warned against confusing equity with delivering only the simplest possible solution.

“The one thing that we risk falling into from an equity perspective is that we go for the lowest common denominator – the most basic test that can be offered to everybody,” said A/Professor Tyrrell. “In my view, this is not equitable because it’s not going to deliver what we’re actually looking for and what we need.”

The panel concluded that the scientific foundations for precision medicine are already firmly established. The remaining challenge lies in policy, funding and implementation.

“A lot of the time people still consider that genomics is the future, but actually it’s not. It is already here, and it’s about what we do next,” stated A/Professor Tyrrell. “Science is not the failure point. It’s what happens next that will ensure that precision medicine, prediction and prevention is embedded in the future.”

Despite the challenges, Boughtwood said she remains optimistic.

“The preventive health narrative has been gaining so much momentum. It’s not just a question for the innovators, researchers, or the policymakers in isolation. We need to galvanise the sector towards this trend and shift. We are gaining traction within government and bringing policymakers closer to innovators, industry and the sector,” she said.

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