A blood test for critically ill babies has saved hundreds of lives, scientists said.
It spots mutations to diagnose serious diseases ranging from severe epilepsy to unusual cancers.
Scientists in Australia rapidly sequenced genomes as part of a trial.
It ran from 2018 to 2022 and involved 450 infants at every children hospital in the country.
On average, it took less than three days and cost AUS $15,000 (£8,270) per patient to collect a sample, analyze it and return a report to doctors.
Cody Weatherby, from Sydney, mother of one of the babies, said: “When he was firstborn, and they put him on my chest, they noticed he wasn’t really breathing.”
The boy was put on a machine to help him breathe, but he continued to get sicker. Tests showed he had an enlarged liver and spleen and low platelets. He required several blood transfusions.
At one point it was feared he wouldn’t survive the night, reports New Scientist.
Results identified a rare condition called Gaucher disease, caused by a faulty variant that fuels fat.
In severe cases, life expectancy is less than two years. The boy called River was immediately given an experimental drug – and now he is fit and healthy.
“He is a typical two-year-old boy, very full of energy,”” Weatherby said
River was among 240 trial participants found to have a genetic condition. The same may apply to the other 210 who perhaps haven’t yet been characterized or been unwell due to a bacterial infection.
Professor Zornitza Stark, of the Victorian Clinical Genetics Services, told a Royal College of Pathologists of Australasia meeting in Melbourne that they all benefited.
She explained: “Having a specific diagnosis tends to improve overall medical care because it means you don’t have to have unnecessary investigations or see specialists who aren’t relevant.”
But those for whom no genetic condition was identified also had better outcomes as a result of being in the trial.
Prof Stark said: “Providing a negative result can help the clinical team direct their thinking away from certain diagnoses and sometimes give them the confidence to forgo invasive tests, such as lung or liver biopsies.”
Of those who received a diagnosis, around 10 percent then had effective treatment – a proportion expected to increase as more medications become available.
For example, five gene therapies – which replace faulty genes with functioning copies – have recently been approved in the U.S.
Speed was key. A decade ago, sequencing a person’s genome typically took four to six weeks.
Prof Stark said: “For babies in intensive care, time is really of the essence.”
The swift turnaround also meant the trial saved the Australian healthcare system AUS $25,000 (£13,780) per child on average by reducing the need for other expensive tests and shortening the time spent in intensive care.
The team is now seeking government funding to make such sequencing available in clinics across Australia, not just as part of a trial.
In October, the NHS announced it would offer rapid whole-genome sequencing to severely ill infants and children.
Weatherby said she and River’s father feel like the “luckiest parents ever.”
She said: “River is living, breathing proof of how important early diagnosis can be.”
Produced in association with SWNS Talker
