Accelerated genetic testing is being offered to seriously ill children whose doctors can’t diagnose their condition, thanks to a new program in England.
Around 1,000 babies and children in intensive care will benefit from the “revolutionary” scheme each year, the NHS has said.
NHS England said its national genetic testing service was a “world first” and could “save the lives of thousands” of seriously ill young people.
If doctors previously suspected a genetic condition for a child’s symptoms, the boy might need a series of tests, the results of which sometimes took weeks.
Now all the children have to do is give simple blood tests, which are then sent to a laboratory in Devon for genetic testing.
Results are returned within seven days, allowing treatment to begin within a week.
The new scheme, announced by NHS England chief Amanda Pritchard on Wednesday, was piloted in the south-west in March.
It is now being rolled out nationwide.
During the trial, a newborn’s life was saved after his blood was sent for rapid tests.
In March, Reuben Tanaka, of Cheltenham, Gloucester, became seriously ill at the age of five days after vomiting and refusing to eat.
The baby, now seven months old, was admitted to intensive care at Bristol Royal Hospital for Children with potentially fatal levels of ammonia in his blood.
Doctors suspected a urea cycle disorder, but tests were inconclusive.
By testing the rapid whole-genome sequencing service, Reuben didn’t need an invasive and potentially dangerous liver biopsy — instead, tested blood.
Genetic changes were found in the CSP1 gene, meaning the boy’s body couldn’t break down nitrogen, which in turn caused the toxic levels of ammonia.
The right medication was quickly administered to Reuben and saved his life.
“When the doctor came out and told us they were doing everything they could to keep him alive, we really realized what we were facing,” said his 39-year-old father Atsushi.
“We saw it connected to 20, 30 tubes and it was really hard to see.”
Reuben’s mother Eleanor, 38, added: “All the care Reuben received would not have come so quickly and his early diagnosis meant we knew what to expect.
“We’re so grateful for everything the NHS has done to make this possible and for the incredible genomic testing we’ve had.”
After two and a half months in the hospital, Reuben was discharged and is now doing well while awaiting a liver transplant that will cure his condition.
Ms Pritchard said the new service marks the beginning of a “new era in genomic medicine”.
“This global premiere is an incredible moment for the NHS and will help us quickly diagnose the diseases of thousands of critically ill children and babies – and save countless lives for years to come,” she will tell delegates at the Genomics Healthcare Summit in London .