Access to life-saving genomic testing for critically-ill children across Australia is a step closer, with the release of a new study that finds ultra-rapid testing can transform the diagnosis and treatment of children in intensive care.

The Australian Genomics Acute Care study, initially established with funding from Australian Genomics, The Royal Children’s Hospital Foundation, the Sydney Children’s Hospital Network, and the Channel Seven Children’s Research Foundation, tested 108 critically ill babies and children admitted to intensive care units in 12 Australian hospitals with genetic conditions.

Test results were returned in just three days for most patients – a process that usually takes three to six months – with 51 per cent leading to a diagnosis and a change in clinical care in 75 per cent of those diagnosed.

Ultra-rapid genomic results in ICU mean the end to invasive tests for a child and reduce uncertainty for the family and treating teams. It allows parents to better understand why their child is sick, how to manage their condition and how to plan for the future. For a small number of children, a timely diagnosis enables precision treatments.

The ground-breaking research, the findings of which are published in the latest Journal of the American Medical Association, has now been recognised with a $5 million grant from the Federal Government’s Medical Research Future Fund, which will enable it to expand to all the states and territories.

The Channel 7 Children’s Research Foundation Chair for the Prevention of Childhood Disability, Professor Jozef Gecz, was a contributor to the study at the University of Adelaide.

“It has been two decades since the international scientific community decoded the first complete Book of Life, the DNA sequence of the first human genome. It cost USD$3 billion. By 2020 millions of individual human genomes have been ‘read’ and the information gained is revolutionising precision health for everyone. Critically ill children and their families are among the next to benefit when DNA sequencing comes to their bedside. The team of the Australian Genomics Health Alliance led by Dr Zornitza Stark from the Melbourne Children’s Research Institute reports on their success (JAMA) with prospective, ultra-rapid DNA sequencing of 108 children from primarily neonatal and paediatric intensive care units from 12 Australian hospitals. These critically ill infants were on average less than one month old! While the 51 per cent molecular diagnostic success rate is a great achievement on its own, it is the speed of just 3.3 days from sample receipt to DNA diagnostic report, which is simply amazing. For many infants (42/55) the diagnosis led to a change in their clinical management. A test like this would otherwise take weeks or months to complete. While the ultra-fast DNA testing is not yet a standard of care in Australia, this study paves a major way towards it.”

The next stage of the study will test more than 240 critically-ill children over three years using whole genome sequencing as a first-tier test in diagnosing rare disease. It will scale up rapid testing capacity in all states and territories.

The paper, Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System is available here.