A fast track to diagnosis through genomic testing

Ground-breaking research into ultra-rapid genomic testing is helping to transform the diagnosis and treatment of critically ill children in intensive care, fast tracking result turnaround time from three months to three days.

The Australian Genomics study, which was published in the Journal of the American Medical Association, tested 108 critically ill babies and children with suspected genetic conditions in intensive care units across 12 Australian hospitals including The Children’s Hospital at Westmead (CHW) and Sydney Children’s Hospital, Randwick (SCH).

Testing was able to confirm a diagnosis in more than 50 per cent of patients, with test results returned in just three days for most patients - a process that usually takes three to six months, and leading to a change in clinical care in 75 per cent of those diagnosed.

Genetic Counsellor for Sydney Children’s Hospitals Network (SCHN) and for the project, Kirsten Boggs, said access to rapid genomic testing, which involves analysing a blood sample from the patient and both parents, will make a huge difference for families.

“The Acute Care project changes the way we offer genomic testing, but also the time spent waiting for results – this is particularly important for families of critically ill children.”

“As genetic counsellors and clinical geneticists we have often been involved with families over many months or even years in search of a genetic diagnosis for their child so having quick access to this testing and the information it produces is invaluable,” Ms Boggs said.

In addition to providing answers for families and treating teams, ultra-rapid genomic results in ICU will also mean an end to invasive tests for a child and will allow parents to better understand why their child is sick, how to manage their condition and how to plan for the future.

“For some children, a timely diagnosis means we can make crucial decisions about their care and can potentially offer precision treatments that may prevent the irreversible damage caused by some of these conditions,” NSW clinical lead and site lead at SCH, Dr Jason Pinner, said.

“For those families who receive a diagnosis, this testing can also let them know the chance of having a similarly affected child in future. It can be life-changing.”

Across SCHN, the collaboration between teams across sites was integral to the success of the project and highlighted the vital role this plays in the delivery of this complex service across different healthcare systems.

“The pathways set up between our PICUs and NICUs, the clinical genetics departments, and the laboratories across SCHN, NSW Health Pathology (Randwick) and Victorian Clinical Genetics Services for rapid genomic testing have been central to the project’s success across the Network and have provided invaluable insight that will continue to be developed as we enter the next phase of the project,” Ms Boggs said.

The success of the study was recognised last month with a $5 million grant from the Federal Government’s Medical Research Future Fund, which will enable the trial to continue into the next phase.

This phase will involve testing more than 240 critically ill children over a three year period, using whole genome sequencing, and will involve clinicians and patients from all states and territories of Australia. 

“This ground-breaking research paves the way for a national rapid genomic diagnosis service,” site lead at CHW, Dr Sarah Sandaradura, said.

“Our hope is that in the future, rapid genomic testing will be available to all babies and children in Australia who are critically unwell, where a genetic diagnosis is suspected.”