The final results of a groundbreaking study into the role of rapid genomic sequencing in diagnosing and managing children in intensive care have been published in the international journal, Nature Medicine.
The study provided whole genome sequencing (WGS) to 290 families of critically ill infants and children from 17 hospitals across Australia over a two-year period. The average turnaround time to results was 2.9 days, and the overall diagnostic rate, 54 per cent.
The integration of genomics into healthcare is gathering pace, with increasing rare disease gene discovery, dramatic reductions in the cost of sequencing, and substantial government investment.
The paper explores the use of rapid whole genome sequencing as a first-line diagnostic tool in critically ill children with suspected rare genetic conditions. It is the first study in the world to do so on a national scale.
And it highlights the major impact of genomic test results on clinical management for patients in intensive care, for example by enabling access to precision treatments, and guiding decisions about surgical procedures and organ transplants.
But for the first time the paper reveals the additional benefit from quickly combining whole genome testing with RNA sequencing, cutting edge bioinformatic analysis, and discovery research to find more answers for more families.
“There is a need to systematically integrate these approaches as part of diagnostic pathways to fully realise the potential of genomic sequencing to alter outcomes in rare disease patients and families in a timely manner,” it concludes.
Lead author Professor Zornitza Stark said the study provides further evidence that rapid genomic testing can have a significant impact on the lives of families at a critical time in their child’s life.
“That it can be delivered successfully on a national scale further supports the case for funding it as standard of care to ensure equity of access to prompt diagnosis and treatment,” she said.
The study was funded by the Medical Research Future Fund Genomics Health Futures Mission, Australian Genomics, the Royal Children’s Hospital Foundation, and Queensland Genomics.