The story of Genomical

29th May, 2023 Dr Natalie Thorne
Dr Natalie Thorne’s speech at the launch of Genomical, Wednesday 24 May 2023.

I’m here to tell you a story.

Dr Natalie Thorne at the launch of Genomical in May 2023.

It’s a good one. It has armies and mad geniuses and labyrinths full of booby traps.

Best of all, it’s a story about you.

It all started ten years ago, just as the Melbourne Genomics Health Alliance got going.

Clara Gaff came to a meeting with a drawing of a shared system that would enable multiple organisations to do genomic testing. It was, she said, the only way that genomics could make the jump from research into healthcare.

It felt like a mad idea at the time.

That was because genomics didn’t really exist in clinical care, then. There were tools available for analysing genomic data, but nothing on the market was capable of moving datasets the size of a thousand copies of War and Peace between those tools.

So while we could buy the tools, we had to build the platform to connect them.

For that, we needed an army. We got doctors and lab scientists from lots of organisations together to define requirements. Some critical, blue-sky ideas came from legends like Paul James and Seb Lunke.

We could quite easily have gone down a technological rabbit-hole. The reason we stayed on track is because of leaders like Clara and Kate Lucas (another mad genius).

They insisted we focus on people first, then technology. That included the patients whose healthcare would depend on this platform, and the scientists who would need to use it.

And so we got to work.

We started building the prototype for the platform while the first Melbourne Genomics clinical projects were running. People like Simon Sadedin taught us a lot about bioinformatics pipelines and what was needed.  

Then there were the heroes behind the orchestration service at the heart of our platform. There are lots – Anthony Marty, Andrew Patterson, Juny Kesumadewi and dozens more.

They created something smart enough to move genomic data through every step of a test, and flexible enough to accommodate different kinds of tests and workflows.

Along the way, we realised no laboratory could store all the data from genomic tests. Scientists were already ferrying around the blueprints of human beings on USB sticks. We needed a better solution, and fast.

Enter Amazon Web Services, who helped us set up a secure cloud solution.

By 2019, the platform named GenoVic was ready to test out. Lab by lab, we started.

Here, by the way, is where the labyrinths full of booby traps come in.

Every health service was at a different point in their genomics journey. VCGS had a range of tests – from gene panels to whole genome sequencing – and each test needed its own workflow.

The Royal Melbourne Hospital, on the other hand, was starting from scratch. We needed to work with them and with AGRF to scope every step of the genomic testing pathway – fortunately, legends like Bryony Thompson and Melanie O’Keefe were there to guide us.

Monash Health was most interested in genomic testing for cancer, so we built that workflow into GenoVic as well. Angus Henderson and the team – thank you for your leadership and for working with us through this process.

Alfred Health wanted to use a tool from Illumina, called BaseSpace, to analyse genomic data. Austin Health wanted to use a different tool called ArcherDX for the same thing. So we had to make sure GenoVic could integrate with both those tools and vendors.

By navigating all those labyrinths, getting things wrong, and doing better, we realised we had built something unique in the world of genomics.

We had a platform that took the manual work out of genomic testing, and made it scalable. One that worked in the real world of healthcare, not just the controlled conditions of a research lab.

If we got this platform right… it would mean that one genomic test could inform a lifetime of more precise healthcare.

At that point, the amazing team around me set out to make GenoVic commercially viable. They ramped up their service delivery capabilities, ran regular security audits, enabled secure data sharing, and added a health integration engine.

Kitty and Keeley and Tim Bakker and Tim Hastings and Lauren and Matt and Caroline and everyone else: what you have accomplished is phenomenal.

The Melbourne Genomics Board and the Business Development Committee in particular provided invaluable guidance along the way.

Then along came our resident investor-whisperer Michelle Kleynhans.

She helped us have conversations with potential investors and with labs outside of Victoria. And we quickly ran into two problems.

First, genomic data management was a really complex subject for investors to wrap their heads around. Second, a product named GenoVic was a little too south of the border.

So now we needed a different kind of mad genius. People who could take complex concepts and turn them into tangible stories.

That’s where our communications manager Zayne D’Crus and the great folk at Portable came in.

They sat down with people who knew LOTS about genomics (like David O’Driscoll and Joe Baini from AGRF) … and people who knew what investors needed (like Leigh Donohue and Bob Soh and Jerome Wielens) … and people who actually did genomic testing (like Jane Lin and Adam Ivey from Alfred Health and Rishu Agarwal and Jonathan Clarke from Austin Health).

They synthesised all those insights to create simple messaging and a vivid new look and feel.

Then we hit a wall. Every name that even vaguely mentioned genes or genomics was already taken. We went back and forth for weeks.

But as often happens, the answer came from a research paper.

This paper predicted that genomics would soon produce more big data than astronomy. The authors speculated that we’d need a new word – genomical – to describe the computational and storage capacities required.

Wasn’t that the perfect name for a platform designed to store the big data from genomics and use it meaningfully in healthcare?

And so we get to Genomical: Your launchpad for genomic medicine. A platform that takes the manual work out of genomic testing … so that your patients get the healthcare they deserve, and you free up time to reach for the stars.

The team at Future Pixel took all this and turned it into a brilliant website. I hope you check it out, and follow Genomical on Twitter and LinkedIn. Amelia Rahardja has lots of fun and informative content planned.

And here we are: the story of how a quickly-scribbled idea turned into a platform that’s bringing genomics into everyday healthcare.

It’s time to celebrate the mad geniuses and bioinformatics wizards and the clinicians and developers and researchers and marketers and security experts and everyone else who made this possible. Today is for you and about you.

Thank you all.

Let’s go write the next chapter.

About the author

Dr Natalie Thorne Chief Scientific Officer

Natalie Thorne leads the multidisciplinary team behind Genomical, a clinical platform used by six medical laboratories for accredited genomic tests.

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The Genomical team acknowledges the Wurundjeri, Gunaikurnai and all First Nations peoples on whose lands we live and work. We pay respect to their Elders, past and present. We also acknowledge the First Nations scientists, researchers and leaders who are shaping the future of genomic medicine.

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