Imagine a portable device the size of a mobile phone that can sequence a patient’s whole genome at the bedside and provide a diagnosis within an hour.
The once inconceivable is now believable as health systems in Australia and overseas grapple with the rapidly changing landscape of genomic medicine.
In the February edition of the international journal Nature Professor Zornitza Stark, a clinical geneticist and researcher, points to one of her cases 10 years ago that took six months to return sequencing results and reach a diagnosis.
Today that process could take days, even hours, leading to the time-critical diagnosis and treatment that would have changed that child’s life.
The Nature article, Genome Diagnostics in the Fast Lane, cites leaders in the ultra-rapid genome sequencing field, including Professors Euan Ashley, Stephen Kingsmore and Zornitza Stark, and the drivers behind the rapid diagnostics.
The convergence of new technologies, falling sequencing costs, research discovery and its clinical application, and more recently the possibilities of artificial intelligence, are among the enablers. But the challenges are many.
“It’s all very well to speed up the test to be done in under 10 hours or whatever, but if it takes 3 weeks for that child to even access the test, you’re not really going to get the full benefit,” Professor Stark tells Nature.
Workforce capacity and education, health system costs and infrastructure, uptake by frontline doctors, equality of access, and consistency in data interpretation and technical standards are just some of the challenges.
It’s almost 10 years since Professor Stark and her team at Australian Genomics and the Victorian Clinical Genetics Services embarked on a mission to build a national rapid sequencing network in Australia, with results of the Acute Care Genomics Study previously published in JAMA and Nature Medicine.
Rapid genomic testing in critically ill newborns and children is supported as standard of care by the Human Genetics Society of Australasia, and is now funded by the Victorian and Western Australian state governments.