The use of genomics in clinical care will take a giant leap forward this year, with Australia’s Genome.One calling for investors as it works towards a pilot of its genomics technology integrated into GP practice software.

Working with vendors, the wholly owned subsidiary of the Garvan Institute of Medical Research aims to make genomics seamlessly available via GP desktops, Genome.One CEO Associate Professor Marcel Dinger told Healthcare IT News Australia.

“We're working with some electronic medical record providers and we're hoping that we can get a trial underway at some point this year,” he said.

“It certainly would be in a pilot kind of a phase and probably still under research protocol, but we're there in terms of having the technology in place to do it.”

Providing clinicians with easy access to what has previously been the high-tech province of medical research has been an ambition of the pioneering health information company that is preparing to step out from under the Garvan Institute’s funding wing two years after it was established.

“The software that we are developing at the moment is actually being designed to sit side by side with medical records, so being able to interface directly on the desktop of the physician. In that regard, the idea is that we actually develop almost seamless access to the genome,” Dinger said.

“What I mean by that is that you can actually take information from the medical record, select out the key information that's needed to be able to identify what parts of the genome need to be interrogated, and discover if there's something relevant there.”

The GP trial would follow on from Genome.One’s work with US healthcare provider Sanford Health, which has incorporated the company’s algorithms and software into clinical use to identify people who would most likely benefit from sequencing and genetic diagnosis.

That technology uses machine learning, natural language processing and concept recognition to detect symptomatology in patient information that matches with known diseases.

Dinger says Genome.One is currently exploring partnerships with EMR vendors in Australia and overseas, and is seeking investors to fund the critical stage of integrating genomics into primary care.

“We've come in to actually implement this and really work out what does the road map look like? How do we go from this point of being able to sequence genomes, to the point where this is actually part of mainstream care?

“And so what we've been doing is actually breaking that down and working on what the step-by-step processes are in making that happen? What are the technologies that are required to be developed to actually realise this? What's the glue that needs to be made, the APIs that need to be developed?”

He said the technology will integrate into existing GP workflows, as medications software does: A patient will visit a GP’s office experiencing shortness of breath, the GP will click an icon that accesses the genomic analysis, it will show there is a known anomaly in a relevant cardiac gene, the patient will be referred to a specialist. The developing field of pharmacogenomics will also improve the individual tailoring of medications and doses.

Genome.One’s work in developing the technology that has formed the foundation for the company has so far has been supported by the Garvan Institute, which has invested about $40 million, but Dinger said he is now in discussions with institutional and private investors and is seeking a lead for a Series A venture capital financing round that will fund the scale-up.

“The degree of investment that's actually involved in the change and shift in healthcare that we're trying to accelerate and perpetuate is not inconsiderable, and certainly outside of the scale of what the Garvan Institute can manage in terms of its funding, and appropriateness as well for its funding.

“Because it starts to go beyond what is medical research and go truly into technology development, which is where we are now. We have seen Genome One go quite quickly from being a genomic pathology company to now what I would describe more as a digital healthcare company.”

Proving the technology in primary care in Australia isn’t Genome.One’s only challenge, with the company looking to expand throughout global markets.

“The market for this is obviously not just Australia. We see the problem that we're solving – which is the access to being able to routinely use genomic information in clinical care regardless of the specialty – is a problem that's going to be met worldwide. Despite however easy it is to sequence a genome, being able to actually use the data remains the outstanding challenge.”

One of the technical developments that has made this work possible is cloud computing, which he said is increasingly being accepted as safe and scalable for health data.

“We're getting there and to be honest I think in genomics it's almost fundamental. I don't think it can really be practically done and scaled economically without some sort of cloud computing platform.”

Genome.One uses a number of AWS cloud products including Elastic Cloud Compute (EC2), which allows the flexibility to scale up computational capacity to analyse a large genome project such as for the Medical Genome Reference Bank and then scale down to zero capacity once the analysis is completed, and EC2 Spot, which reduces the cost of computation by “bidding” on spare EC2 capacity that would otherwise be unused.

Dinger, who delivered a keynote address at last week’s mammoth AWS Summit in Sydney, said with faster and more accurate diagnosis of a growing number of diseases, improved medications treatment flowing from precision medicine, and the cost benefits to healthcare systems, the increased use of genomics is not only essential in clinical care but inevitable.

“If we're to continue to increase our quality of life and our lifespan, genomics is fundamental to that. And I think it's also core for reducing the unsustainable increases that are happening at the moment in healthcare costs. So we need to switch towards this other practice in healthcare.”

By 2025, Genome.One intends its technology to be used to inform healthcare and lifestyle decisions worldwide.



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