Ultrarapid gene testing offers hope for critically ill children

Genetic diagnoses for children in intensive care are being delivered in record times under a national study by Australian Genomics.

Genomic testing is transforming traditional diagnosis in medicine, particularly in intensive care units where rapid results are vital.

The Acute Care study was set up to provide genomic test results in less than five days to the sickest of children – those in neonatal and paediatric intensive care units – with a view to making rapid genomic diagnosis routinely available for this group of patients.

The tests now typically take three to four months. But the results of the study so far have diagnostic reports being delivered in just three days on average.

The project is led by Associate Professor Zornitza Stark, clinical geneticist, and Dr Sebastian Lunke, clinical scientist, from the Victorian Clinical Genetics Services, the genetic testing arm of the Murdoch Children’s Research Institute.

“These outcomes are extremely encouraging,” said Australian Genomics Co-Lead and member of the project team, Professor John Christodoulou.

“Similar studies are under way at many hospitals around the world, but Australian Genomics is providing the infrastructure and resources for us to implement this at a national level across multiple sites simultaneously.”

The project is coordinated by Australian Genomics and delivered by a dedicated team of more than 50 doctors, genetic counsellors and scientists across four states. It receives generous support and contributions from the Royal Children’s Hospital Foundation, the Sydney Children’s Hospital Network, and Australian Genomics.

Rapid genomic testing is currently available at only a handful of centres worldwide and the Australian team is forging new ground by delivering rapid genomic diagnosis at a national level.

Professor Christodoulou said that in a number of cases, finding a diagnosis for a child’s condition allowed doctors to provide a specific treatment.

In other cases, the rapid results helped inform critical clinical decision making, including the avoidance of invasive procedures.

Preliminary findings of the study are expected to be published early next year.

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