Real-time genetic tests could be game changer

In a move that could revolutionise patient care, James Cook University researchers will be trialling the use of hand-held genetic testing devices in hospitals to catch deadly diseases before they get out of control.

Dr Matthew Field, senior research fellow in Bioinformatics at JCU's Australian Institute of Tropical Health and Medicine (AITHM), said the team will use portable devices to sequence genetic information at two public hospitals in northern Queensland.

"The sequencing will enable us to detect known viruses, bacteria, funguses or other pathogens, as well as new diseases. The idea is to speed up the diagnosis of sepsis and unexplained high fevers in patients so we can provide more precise treatment," he said.

The trial has received a funding grant of around $180,000 from Queensland Health throughthe Queensland Genomics Health Alliance (QGHA).

Professor John McBride of the JCU Clinical School at Cairns Hospital will lead the clinical aspects.

"There's a high percentage of people who present to the hospital with fevers and who are unwell and we can't make a diagnosis because the current testing technology isn't capable of it.

"At the moment, if we look at a very sick patient with a high fever, we can't tell just by looking and doing basic tests, whether they've got a bacterial infection, a viral infection, a fungal infection or even a protozoal infection. – that includes things like malaria. So we wanted to have one test that is able to pick up all these things," Professor McBride said.

Dr Field said the service will be especially important in remote Indigenous areas because Indigenous Australians have a higher death rate from sepsis than other populations. The research team aims to find the best method of genomics testing, so it can be rolled out across regional Queensland hospitals.

Dr Field, who will lead analysis of the results, said using genomics to get a precise diagnosis will allow doctors to prescribe the correct medicine. It will avoid the prescription of large doses of broad spectrum antibiotics and slow the growth of antibiotic resistance.

The study is also vital for Australia's biosecurity, as genomics tests could allow researchers to quickly pick up new infectious diseases or tropical pathogens, such as the Zika virus, that could spread here from overseas.

The researchers will compare the results of two types of genomics systems. One of which will give results within an hour.

"You can imagine this is not only exciting in the hospital, but in the longer term you can roll this out in remote settings all around rural Australia and in the South Pacific," said Dr Field.

Professor McBride said they have assembled a crack team at JCU for the investigation, including "good clinicians at multiple sites who are very keen and engaged".

Professor Emma McBryde, professorial research fellow in infectious diseases and epidemiology at AITHM, is the academic lead investigator, while Professor Damon Eisen, Professor of Medicine at Townsville Hospital, will lead the sepsis part of the project.

Professor McBryde said most patients recover fully. "But occasionally a patient will have a serious illness or even die without us knowing what was wrong with them. And these are the sorts of things where we think deep sequencing might be an advance."

Dr Field said it could revolutionise patient care.

"Something like sepsis is a huge problem all over the world. So if we are able to demonstrate that this works in a timely manner and we can deliver what we say we are going to deliver on, then this will be a game changer for treatment of sepsis everywhere," he said.

Queensland Genomics is funded by the Queensland Government to bring genomics into everyday healthcare in Queensland. Genomic medicine is poised to transform the delivery of health services globally with faster diagnosis, new treatments, and more cost-effective service delivery.

Acknowledgement: The Queensland Health-funded study builds on current research by Dr Paul Horwood into genomics for undiagnosed infectious diseases evaluation and diagnosis in northern Australia. The HOT NORTH project is funded by the National Health and Medical Research Council and based at the Menzies School of Health Research.

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