As genomic testing gets ever faster, a new Australian Genomics study finds substantial economic and personal benefits gained from faster turnaround times of genomic results.
Researchers focused on a cohort of critically ill children and compared the economic and welfare impacts of rapid and ultra-rapid genomic testing with standard genomic testing.
The findings, published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG), show that the early use of ultra-rapid testing in critically ill children could save Australia’s health system $7.3 million a year and have an annual welfare gain equivalent to $3.3 million – a total annual net benefit of $10.6 million.
The study factors in the higher costs associated with rapid and ultra-rapid genomic testing and assesses whether these are outweighed by improvements in other factors, such as lower healthcare costs from less time spent in hospital, increases in personal utility relating to the reduction in the turnaround time for results, and improvements in the child’s medical care and health outcomes.
It uses real-world hospital cost data and previously published evidence on the value of a timely genomic diagnosis in paediatric critical care to conclude that the economic and personal benefits do in fact justify the higher cost of ultra-rapid testing.
“The evidence, including health economic evidence, for the benefit of ultra-rapid genomic testing is now overwhelming, and it is time this became standard of care for critically ill children with rare disease,” lead investigator Professor Zornitza Stark said.
Lead investigator Associate Professor Ilias Goranitis said the study made two important points: “First, families value a timely diagnosis very highly, and it is pertinent to formally consider that personal value of genomics in our evaluations and decision making.
“Secondly, from a healthcare system perspective, ultra-rapid testing is cost saving, which means that it can free up resources to be used to maximize population health in other ways.”
*The children were tested through the Melbourne Genomics Health Alliance