Australia’s genome data black hole

5 minute read

We keep outsourcing our genomics analysis and losing ownership of the data; countries like Estonia are decades ahead.

If ever there was sector that highlights Australia’s continued interoperability challenges it is genomics.

Compared with countries like Estonia, which established a state-led genome project 23 years ago, Australia is barely in the race.

It was another 16 years before Australian Genomics was established as a national research collaboration in 2016.

There have been other small hops forward since then. The Department of Health and Aged Care recently declared a new national body, to be called Genomics Australia, would be established as a quasi-government agency to advise on all things DNA and accelerate the integration of genomic health technology into Australia.

That’s following a 2021 Genomics Health Futures Mission roadmap that helps guide the previous government’s commitment of $500 million for the funding of genomics research.

Dr Natalie Thorne (PhD), scientific director of Genomical, says the funding has enabled “some pretty amazing research projects” and has built Australia’s research genomics capability.

However, the underlying infrastructure to roll out research findings at scale is immature, with Dr Thorne saying there is “a huge gap” in genomics maturity between Australia and countries like Estonia.

According to Dr Thorne one of the missing pieces of the puzzle is that Australia has not put national emphasis on the translation and implementation aspects of the sector.

“What we’ve done is a lot of projects that have said why genomics is good and how we can do it, but we don’t have the infrastructure to actually translate that and adopt that in a whole-country approach,” she told TMR.

Dr Thorne says Australia hasn’t been focusing on the digital health aspects of genomics at the same pace as the research has been happening.

Genome testing of Australian patients is frequently processed in overseas laboratories. Apart from the end results, all the actual genome data becomes the property of the foreign lab.

“We don’t currently have any systems that connect that data back to us. We don’t have that sort of traceability of where the data is gone,” says Dr Thorne.

“We lack any clear policies around whether data from tests sent overseas need to be repatriated, or at least connected, into the Australian system.”

This absence of policy and infrastructure, for genome data management, stops consumers from being easily connected to clinical trials and drugs, or to research that might lead to new treatments, Dr Thorne said.

“What we are missing out on is building that sovereign capability to access and reuse that genomic data for research that ultimately benefits those consumers.

“Most of the genomic results are sent [back to Australia] in a PDF format. They are often not even stored here in an electronic health record, like My Health Record,” she said.

Even if results are stored in an electronic health record, they’re not searchable or queriable because of the PDF format, Dr Thorne said.

However, the problem goes beyond Australia’s inability to reuse data stored overseas, she says. Australian genomic testing labs are not yet scalable and are also effectively storing all their data in silos.

“They’re not interoperable with other healthcare systems and they’re not connected up with each other,” Dr Thorne said.

This is where Genomical comes in to manage the data side of genome testing in Australia. The not-for-profit SaaS (Software as a Service) model plugs the gap between small practice management systems in pathology labs, and larger hospital electronic medical records (EMR). Despite their size, EMRs cannot handle the stupendous amounts of data produced at scale from genome testing.

Dr Thorne said Genomical was a key foundation piece for scaling up the Australian genomics ecosystem. It accepts orders from an external EMR and can send an atomic (queriable) report back to an EMR. It also allows labs to request and access data from each other for clinical care. Importantly, it allows Australian genome labs to scale up and keep Australian patient’s genome data onshore for potential reuse or research.

Dr Thorne said it’s important that the data is not just locked away in a repository database.

“Everyone needs to control the data that they produce from an accreditation point of view. Genomical works a bit like a shared platform but with separate federated governance.”

Dr Thorne will speak at the Wild Health Summit today, alongside Estonian health leader Dr Dr Priit Tohver.

Dr Tohver leads quality services at Estonia’s largest healthcare provider, North Estonia Medical Centre, which serves half the nation’s population. He said that Estonia’s digital health maturity was a platform for significant population health benefits.

Dr Tohver said, in an interview with Dr Bertlan Mesko, that a priority of the Estonian healthcare system was creating an ecosystem where genetic data-based, personalised and preventive solutions are at the center.

He said that Estonia’s personalised medicine project had been going since 2002, supported by the foundation of the Estonian Genome Center, but said it would take years to fully reap the benefits.

End of content

No more pages to load

Log In Register ×