Enabling faster genetic diagnosis for critically ill infants

Critically unwell Australian babies and children with suspected genetic conditions will undergo rapid genomic testing to help guide their diagnosis and care as part of an Australia-first study involving Genome.One.

The Acute Care Genomics study, announced today by the Australian Genomics Health Alliance, will provide genomic test results in as little as five days for around 250 babies and children in intensive care units over the next two years.

DNA samples collected from children being cared for at 18 neonatal and paediatric intensive care units across much of the country will be sent to Genome.One in Sydney and the Victorian Clinical Genetics Services (VCGS) for rapid testing, with the aim of quickly pinpointing the cause of the babies’ condition in order to best inform their clinical care.

Reducing turnaround time for results

At each stage of the process – from the DNA preparation and genomic sequencing, to bioinformatic analysis, diagnosis and return of results – teams at both centres will streamline processes and sharpen technological capabilities, to enable return of results at a speed that is unprecedented in Australia.

Genome.One will work with hospitals including those in the Sydney Children’s Hospitals Network (SCHN) to ensure information from testing is available as quickly as possible to guide decisions on the care of the critically unwell children.

“We’re continuously refining our approaches and innovating to make the process more efficient at every stage to be able to provide genomic information to where it can be best used in healthcare within a meaningful timeframe,” said one of the study leaders, Associate Professor Marcel Dinger, CEO of Genome.One, a wholly-owned subsidiary of the Garvan Institute of Medical Research, and Head of Garvan’s Kinghorn Centre for Clinical Genomics.

Associate Professor Zornitza Stark, a clinical geneticist at VCGS and another study leader, said at the moment, turnaround times for genomic results could be up to six months. However, pilot studies had shown the clinical and economic benefit of applying genomic testing early in rare disease diagnosis.

“Time is absolutely precious when providing care to sick babies and children in intensive care units,” she said.

Integrating genomics into standard care

The study is the first to pioneer a national approach to rapid rare disease diagnosis using rapid genomic testing.

It comes after Dr Stephen Kingsmore, a world leader in rapid sequencing of newborns and children, visited Australia to address the inaugural Annual Australian Clinical Genomics Symposium.

Dr Kingsmore, who is implementing rapid genome sequencing in neonatal and paediatric intensive care units at Rady Children’s Hospital in San Diego, USA, told the symposium that further clinical trials were needed to pave the way for the integration of genomics into standard care. 

About the Study

The Acute Care Genomics study has been established with support of The Royal Children’s Hospital Foundation, the Sydney Children’s Hospital Network, Garvan Institute of Medical Research, Genome.One and Australian Genomics Health Alliance.

It is one of four new national genomic research studies launched by the Australian Genomics Health Alliance aimed at trialling how genomics can provide diagnosis certainty and change practice, with other trials focusing on lung disease in children, and heart conditions and end-stage kidney disease in adults.


Find out more

·      Read more about the new Australian Genomics Health Alliance national flagship studies

·      Watch the video of Dr Kingsmore discussing how sequencing can transform the lives of sick children