This article is part of a report called Genomics in Victoria: What’s changed in 10 years? The information in this article is current as at October 2023.
Victoria pioneered rapid genomic sequencing for critically-ill babies, showing it could deliver results up to ten times faster.
In 2015, it took around 136 days to receive a genomic test result. Children in intensive care need answers much faster than that.
Melbourne Genomics members formed a ‘rapids team’, bringing together specimen reception staff, diagnostic laboratory scientists, bioinformaticians, variant curators, intensive care clinicians, clinical geneticists and genetic counsellors. They explored every aspect of the testing process and how it could be made faster.
The rapids team provided genomic testing to 40 critically-ill children and babies. They were able to reduce the time to 16 days – almost 10 times faster than the standard. More than half of those children received a diagnosis, and a quarter had a change in care because of it.1
The study was so successful that its lead investigators received funding from Australian Genomics, the Medical Research Future Fund and philanthropic foundations to take it nationwide. They made further improvements – from specialist sampling machines to new analysis tools to a rapid review committee available seven days a week – bringing testing time down to just 2.9 days.2
Rapid genomic testing gives doctors and families answers when they are desperately needed. Children can be spared more invasive tests, get treatments more likely to succeed, and go home to their families earlier.
An application with the Independent Hospital and Aged Care Pricing Authority is underway for rapid testing of critically-ill children to be nationally funded. Meanwhile, Victorian and West Australian governments have stepped up to ensure that children in their states can access this test when needed.
Sources
- “Meeting the challenges of implementing rapid genomic testing in acute paediatric care”, Stark et.al, Genetics in Medicine (2018) doi:10.1038/gim.2018.37 7
- “Integrated multi-omics for rapid rare disease diagnosis on a national scale”, Lunke et.al., Nature Medicine (2022) https://doi. org/10.1038/s41591-023-02401-9