Rapid whole genome sequencing should be offered as standard to help to diagnose infants who are born severely ill or who develop serious illness in the first few weeks of life, a European conference has heard.
An Australian study, which was presented to the annual conference of the European Society of Human Genetics on Sunday (June 12), shows combining genomic, transcriptomic and functional data can accelerate rare disease diagnosis on a national scale.
Professor Zornitza Stark, clinical geneticist at the Victorian Clinical Genetics Services and Australian Genomics, said: “The evidence of diagnostic, clinical, and family benefit of rapid genomic testing in critically ill children is overwhelming. This type of testing should become the standard of care for these patients.”
Ultra-rapid whole genome sequencing was undertaken in 290 critically ill paediatric patients with rare disease between January 2020 and January 2022, with the aim of receiving diagnoses in under five days.
“We wanted the programme to serve as an exemplar of how genomics can improve diagnostic and clinical outcomes in paediatric disease in real time,” says Prof Stark.
“We have now incorporated RNA sequencing and, through close collaboration with clinicians and researchers, optimised the use of functional data to secure additional diagnoses.”
Ultra-rapid whole genome sequencing resulted in a diagnosis in an average of just under three days in 136 patients. Of the remaining 154 patients who were not diagnosed by whole genome sequencing, RNA sequencing, functional assays and other tests led to an additional 20 diagnoses.
Prof Stark said while the initial cost of genomic testing remains high compared with other diagnostic investigations, it leads to substantial savings to healthcare systems in the longer term.
“There are still many challenges to be faced, not least finding a way to quickly transition successful research programmes into the clinical setting, but we believe our work has shown that ultra-rapid WGS has diagnostic, clinical, and economic benefit on a national level,” says Prof Stark.
“We hope that our approach will soon become part of mainstream diagnostic practice not just in Australia, but also further afield.”
Abstract C11.6: Rapid rare disease diagnosis on a national scale: an integrated multi-omic approach
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