A new fast-track DNA test for babies and children which scans for thousands of rare diseases has been rolled out across the NHS in England.
The technique, called “whole exome sequencing”, can scan around 20,000 human genes in just 27 hours – a process which used to take 10 days.
That means quicker diagnoses of around 5,000 rare conditions.
Around 80 babies and children have been tested since it was introduced in October 2019 and the NHS hopes up to 700 patients will benefit each year.
Sian Ellard, scientific director of the South West Genomic Laboratory Hub, created the new test.
She said: “It’s a huge step because when genetic testing started in the NHS about 25 years ago, looking for rare diseases like cystic fibrosis we had to set up each test for each disease.
“So in fact we were only able to test for the most common rare diseases, and today that doesn’t matter.”
The test, which costs around £2,000, is now being routinely offered to children in neonatal and paediatric intensive care units if a genetic condition is suspected.
One of the first patients to be tested before the roll-out was four-year-old Henry Dunn.
It was 20 months before doctors were able to diagnose him with Costello syndrome – a rare disease that makes him more susceptible to childhood cancers.
His mother Lauren told Sky News that finally having a diagnosis was like getting the final part of the puzzle.
“It was like a massive weight off our shoulders – we finally had an idea of what Henry’s life might look like.
“The unknown is so much worse than the known, so by having that [a diagnosis] allowed us to have a better understanding and acceptance really of what life might be like for Henry.”
Figures show the new test provides a diagnosis in 45% of cases and can also help show which patients are unlikely to respond to certain treatments.
NHS England chief executive Sir Simon Stevens said: “Once again the NHS is at the forefront of the genomic revolution with patients in England the first to be routinely offered this cutting edge treatment as part of the Long Term Plan.”
Health Secretary Matt Hancock said: “The pain for families seeking a diagnosis for their sick children is unimaginable.
“These cutting-edge DNA tests will much more rapidly diagnose rare diseases, helping to put an end to uncertainty and allowing children to receive the best possible treatment.”