Within two years it will be unacceptable for cancers to go unsequenced and genomics analysis will be the standard of care for rare and undiagnosed severe disability, according to the outgoing head of Australia’s prestigious Garvan Institute, as healthcare transforms from the “last of the great cottage industries”.

A pioneer, soothsayer and pied piper: meeting Professor John Mattick it’s easy to see why he is described as a man on the vanguard of transforming clinical care through genomics.

A precision medicine evangelist, he is preoccupied with placing its diagnostic and curative powers – once the stuff of science fiction and the high-tech province of medical research – into doctors’ hands.

These aren’t the ambitions of a mad scientist – in his six-year tenure at the Garvan Institute, Mattick has positioned the medical research institute as a world leader of a healthcare disruption that will influence global economies and save lives.

“Health is the biggest industry in the world. It's the most important and it's about to go through a rapid transition from the last of the great cottage industries to the most important of the data-intensive industries on the planet. That's going to happen over the next 20 years,” Mattick told Healthcare IT News Australia.

Under Mattick’s stewardship, the Garvan has supercharged the use of genomics, bioinformatics and big data in its research. It has also established a business arm, Genome.One, which is developing the technology that will integrate genomics analysis into GP practice software in a trial slated to begin in 2018.

But in May, he’s leaving to take up the job at the helm of the UK Government’s Genomics England, the company set up to deliver the 100,000 Genomes Project that is currently sequencing the whole genomes of NHS patients with rare diseases and their families, as well as patients with common cancers. The project passed the halfway mark in March.

Reflecting on Australian healthcare before he departs for London, Mattick said changes here will be swift, dramatic and inevitable.

Now, however, patients go to see specialists or GPs and “it’s a mum and pop show”.

“They’ve got what's in their head, they can look up stuff in the computer a bit, they take your temperature. There's no real information about you as an individual other what they've got in their immediate records if you’ve turned up at their practice before,” Mattick said.

“But in the new ecology, you’ll walk in and they’ll say, ‘Welcome, let's have a look at what the reports are showing. It says you are at elevated risk for blood clots. You didn’t know that but you are. Don’t worry, just take an aspirin a day and you’ll be fine and we’ll head off that DVT episode in the sky or the stroke.’ That sort of thing.”

He said he’s frustrated that in the current low-tech ecosystem patient information is siloed in internal medical record systems and most providers don’t even share to the Federal Government’s My Health Record.

“I'm starting to think I'm only going to go see healthcare providers that actually are part of the digital economy because I don’t want to have to pull out my X-rays every time I go and see somebody about my ankle playing up again. You know, it should just be on my record.”

But getting clinicians on-board will come about once the chasm between high-tech medical discovery and patient care collapses.

“You’re sitting there in a practice in Randwick or in Dubbo, ‘How do I understand my patient’s genome? I don’t even have it let alone have an analytical engine that can give me the information.’ So we're developing that.

“That's one of the points about a research institute like this one: it’s that we not only invent the future in terms of contributing to the canon of knowledge but also early uptake and development of new technologies for both discovery and for translation.

“And the beautiful thing here is that genomic sequencing is collapsing the clinic and the research into the one endeavour. They’re the same thing now. We’re studying humans, not mice.”

For Mattick, the reason there’s resistance and skepticism is because “people haven’t been able to touch and feel it yet” but that will change once healthcare providers are able to easily integrate genomics into patient care. Then, once they see the benefits, they will be converts.

Already, genomics can predict “which members of the family got the dud gene for cardiac or cancer risk, and which ones should have either regular screening in the case of cancer or maybe a pacemaker in the case of heart disease”.

It can also lead to more effective drug treatments and minimise toxic reactions to prescription medications.

“We can predict a lot of those either non-response or toxic outcomes in advance from genomic information that specifies the variance in these enzymes in your liver and so you come in and your doc says, ‘I need to treat this condition, let me check. Oh no I can’t give you that drug, you won’t respond well to that. I’ll have to give you this one. I'm going to give you a low dose because you’re a slow metaboliser. And by the way the FitBit device or the implantable will actually record your bloodstream drug doses so we keep an eye on making sure it's kept at optimal levels.”

He said current pathology testing on a disabled child can take years and cost more than $10,000, often without a successful diagnosis, but genomics can minimise the trauma, investment and wasted effort.

“You do a genome sequence which is about half the cost and we’re diagnosing 50 per cent of those cases straight up. So you avoid not only all the extra costs to the healthcare system, but all of the diagnostic odyssey for the parents and the kids being poked and MRI-ed and blood-tested. It’s a no-brainer for every reason, including financial, that it’s a better thing to do. So that’ll come into standard practice.”

He said no longer is it sufficient to say a patient has breast cancer or liver cancer. It's more important to have identified the driver mutation because that leads to the most effective treatment option.

“I can tell you in cancer it will be unacceptable in a year or two, I predict, to not have your cancer sequenced.”

The march of developments in the space is astonishing. Just in the last month, the Garvan has published world first research identifying a new DNA structure – the i-motif – that has not previously been directly seen inside living cells. It has received Cancer Council NSW grants to advance research into breast cancer immunotherapy and personalised treatment for pancreatic cancer, and fund a trial of a new prostate cancer assessment tool. The Garvan and Genome.One have been awarded a grant from the Federal Government’s BioMedTech Horizons program to develop a new genomic profiling test for tumours, along with a national platform to match cancer patients to precision medicine clinical trials. Microsoft’s Azure has also contributed a grant to support the development of a genetic index that will perform complex production bioinformatics on 5000 whole human genomes.

Mattick’s intention is that all of that, as well as the many other discoveries occurring in the field globally, will trickle down to the shop floor.

“In the case of pancreatic cancer, we have over 30 different mutations that cause pancreatic cancer. A proportion of those, I think it’s maybe 20 per cent or 30 per cent, can be treated by targeted drugs. But you’re not going to try all of those drugs on the off chance that it’s going to respond. You’ve got to sequence it first, ‘Oh, it’s an AKT mutation, we use this drug’,” Mattick said.

Sequencing tumours and using the information to put patients on targeted drugs has shown an average two-fold extension of survival and an average 21 per cent decrease in cost.

The benefits to healthcare systems – in terms of lives extended and financial impact – will make genomics fundamental to patient care.

“Once those figures get out, that you get a two-fold average increase in survival from sequencing and knowing which drug to use, and more and more drugs are coming along, and you get these miraculous stories locally and across the world of kids and adults who are dead otherwise who've now been declared cancer free, it will not be acceptable in 12 to 24 months anywhere in this country for somebody not to have their cancer genome sequenced.”

In the UK, where Mattick is heading, genome sequencing is now the automatic standard of care for any individual with a serious, undiagnosed disability and he is hoping New South Wales will follow within the next two years.

“The value proposition is so high not just medically but for the health economics.”

Mattick said “far be it for me to tell the government what to do” but he sees it as a responsibility of those at the “front of the bus” to advise health departments and governments of the looming scenario.

“Personally, I think my advice would be that state and federal health departments and ministers should be more actively looking at the evolution in this space of the new technologies and how they might be productively brought on board at the right time to improve the quality of the healthcare system.”

He also suggested health departments should establish an “IQ unit” to study how these technologies are evolving and being implemented.

“The people who develop the analytics that convert genomic information and this other ecology into clinically useful information are going to be the heart and soul of the health delivery in the healthcare system of the future both at the individual level but also system management.

“Even health department officials will be screening this data stratified so that you get more and more efficiency and a higher quality, more efficient healthcare system so that in itself is massive.

“But what will happen after that, when we moved from diagnosis to prognosis is we will have many fewer people with chronic diseases, many fewer babies born with disabilities because of preconception screening and avoidance of the problem, and many fewer people dying early of heart disease or cancer – all of which plays into the national economy.”

He said health is the fastest growing industry in the world and “anything that transforms that is going to have massive economic consequences”.

Right now, Garvan and Genome.One are working to ensure that Australia has the infrastructure in place to meet the rising demand for genomic tests.

But Mattick, who has received international recognition for his scientific contributions to understanding the human genome, particularly his work in showing that most of it is not evolutionary ‘junk’ as previously thought but part of an extensive RNA regulatory system that organises human development, said he believes it won’t be the bureaucrats or health systems driving innovation.

He said he’s “a simple guy” and believes that stories of miraculous cures will lead patients to drive the sector to one in which they can access the best care available.

“Literally the lives we’ve saved in just the last few months. I mean they were dead, and we've saved their lives. They’re cured.”

The change, therefore, will ultimately come about not via the evidence of efficiencies and cost savings but through people’s strongest motivator – their sheer determination to live.

“You've got cancer, you're on the web and you see the miraculous stories, you see these figures. What are you going to say to your doctor?”




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