Groundbreaking new blood test to spot killer disease in newborns will be rolled out on NHS | The SunOctober 12, 2022
POORLY babies will get world-first rapid DNA testing on the NHS to spot deadly genetic diseases.
A cutting-edge new lab will turn round the lifesaving checks within days if a child is in intensive care.
It will boost survival chances for around 1,200 newborns every year.
NHS England chief Amanda Pritchard said: “This global first is an incredible moment for the NHS.
“It will be revolutionary in helping us to rapidly diagnose the illnesses of thousands of seriously ill children and babies, saving countless lives in the years to come.”
“When a child comes to intensive care, timing is everything – so finding the right diagnosis and treatment as quickly as possible is absolutely vital.”
The testing will be rolled out nationally today after five years of development and local trials.
A lab in Devon will check the blood samples of all seriously ill tots in England who doctors think may have a genetic illness.
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Scanning for damaged DNA can reveal more than 6,000 conditions including rare cancers, epilepsy and brain or nerve disorders like spinal muscular atrophy.
Genetic diseases cause one in three neonatal intensive care deaths but many can be treated.
Blood tests will now be completed within days instead of weeks, buying precious time.
Dr Emma Baple, who runs the lab, said: “The rapid whole genome testing service will transform how rare genetic conditions are diagnosed.
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“We know that with prompt and accurate diagnosis, conditions could be cured or better managed, which would be life-altering – and potentially lifesaving – for so many children.”
NHS boss Ms Pritchard also laid out a five-year Genomics Strategy to have DNA testing rolled out for adults and to train more staff to use it.
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