Traditional ways of patient care need to be turned on their heads when it comes to implementing clinical genomics. They now require technology platforms that support data streams, according to an expert in the field.

Melbourne Genomics Health Alliance Program Manager Kate Birch, who will be speaking at the upcoming HIMSS19 conference in Orlando, told HITNA that the alliance is examining ways to make data support part of a standard practice.

In doing that, it aims to bring global knowledge to individual care for Victorians.

“We aim to do it through a few ways: both delivering the clinical tests where they’re indicated and also making sure that the data is put in a way that can be used for research in future,” she said.

“Patients are asked about their preferences in the use of that data at the beginning, so it means that we’re not just diagnosing patients now but can translate that data into the future as we learn more.”

The Melbourne Genomics Health Alliance was established in 2013, encompassing Victorian organisations across healthcare, academia and research to establish systems that support genomics in practice and producing evidence to guide genomic medicine in Australia and internationally.

“Every day there are new discoveries being made about genes or particular new patients and because we don’t have that genomic information stored, we can’t look into that over time and provide diagnosis in the future. That’s what we aim to reduce,” Birch said.

According to Birch, there are two schools of thought when it comes to clinical genomics – people who say clinical genomics will change everything in healthcare and those that say it’s all hype.

“Like most new technologies, the first promises are always an overblow. This is not going to completely change the way we think about the future health system but it’s going to have a significant change in care for a big proportion of patients,” she said.

“Melbourne Genomics sits in the middle. We’re trying to find the right genomic test for the right patient and when in that care that should happen. We have found that some particular clinical indications do make a difference into the future of these patients.

“But what’s important is that we don’t think the answer is in genomics all the time; it’s actually about finding the right conditions to use data from these tests for.”

DOING IT RIGHT

The Federal Government’s $30 million investment in funding for the Parkinson’s Disease Mission, which integrates clinical trials and genomics research led by the Garvan Institute of Medical Research, is one example to the potential of clinical genomics, according to Birch.

This involves the sequencing of genomes of about 1000 people with Parkinson’s disease over five years to potentially use the data to recognise unknown causes, identify biomarkers and assess if there are Parkinson’s subtypes to target with specific drugs.

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Birch said another example is the use of clinical genomics in pediatrics for children suspected with genetic conditions.

“We’re finding that we get five times the rate of diagnosis at less than half the cost to the healthcare system. So, genomics will change things for patients by providing diagnoses more quickly and at a cheaper cost for the healthcare system.”

Joint partners that have collaborated in the work with children with suspected genetic disorders, Royal Children’s Hospital and The Murdoch Children's Research Institute, are leaders in the use of clinical genomic data, according to Birch.

“A lot of times, children who may benefit from a genomic test have been to four or five clinicians. Some of these children have lots of health problems but are still relatively healthy, while other children may end up in the ICU. So, the Royal Children’s Hospital realised that it needed a program that turns around these tests quickly for those who need them,” she said.

“That resulted in the creation of a whole new model of  delivering genomics – acute care genomics, which has delivered on lifesaving genomics in the ICU.”

From this example, Birch said that it’s important to understand that implementing genomics is going to take a whole-of-system approach.

“You need to think across all of your systems and all of the players in these very complicated organisations. The other part is the technologies that underpin it. We’re dealing with massive amounts of data when we talk about genomics and we need the right technologies to be able to support it.

“It’s quite different to what the hospitals have done before in other areas – probably most akin to radiology in terms of the volume of data,” she mentioned.

THE WAY FORWARD

The Melbourne Genomics Health Alliance previously received $25 million in investment over four years from Victoria’s Department of Health and Human Services to ingrain genomics into practice, but Birch said there’s more that needs to be done in this space.

“We’re getting to the end of that four-year program now and we’re not quite done. We’ve seen other national implementation projects and those have taken 10 years or so to shift the system. So, we think we need another four years for this to be fully embedded,” she said.

“Clinical genomics provides a huge potential going into the future. As we generate more knowledge, we collect more genomic data and we understand it better.”

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Birch highlighted the way the US uses data for clinical genomics, especially in understanding the underlying mutations that has driven a particular cancer so as to find treatments for the molecular makeup of that particular tumour.

“This is the move into precision medicine and it’s going to change care in the future. Getting the technology to keep pace with the development in genomics is important to focus on in managing the data that comes out of it.”

Birch claimed that healthcare organisations are currently “incredibly interested” in adopting these technologies, but the only thing that’s slowing them down is the plethora of tech in the industry.

“We’re in the midst of EMR implementations across Victoria, which are big and involved projects that take up a lot of time and effort. So the appetite for clinical genomics is there, but we’re just one of many needs of digital support in health at the moment,” she said.

In improving this support, she addressed the need for industry, academia and governments to come together to supporting this future.

“The Victorian Government has made early investments into genomics and I would hope it sees the value in continuing those investments. Victoria has done a great job in positioning ourselves as a leader in this space and we’ve got a good opportunity to maintain that,” she said.

“In academia, we have big research organisations that are part of our alliance that hold the position to take advantage of the clinically generated data into the future. And as for industry, there are now some members moving into the space, but we could use further investments.”

Birch will be speaking about how a collaboration of hospitals and research centers in Victoria was formed to bring concerted effort to overcoming the challenges associated with clinical genomics and ways to implement it into everyday standard care at the upcoming HIMSS19 conference in Orlando.

Her session is on February 13, at 8.30-9.30am, and is titled Technology to Enable the Clinical Genomics Revolution in Australia.