NHS England launches national genetic testing service for babies and children
17 Oct 2022
NHS England has announced the launch of a ‘world-first’ national genetic testing service to deliver rapid life-saving checks for children and babies.
The new service, which was unveiled by NHS chief executive Amanda Pritchard at the first-ever NHS genomics conference in England, will be based in Devon and is set to benefit more than 1,000 children and babies in intensive care every year who, until now, had to undergo extensive levels of tests, with results often taking weeks to come back.
As a result of the launch, they will now be able to have simple blood tests and once they are processed, the service will give medical teams from across the country results within days – meaning they can kick start lifesaving treatment plans for more than 6,000 genetic diseases.
Pritchard said: "This global first is an incredible moment for the NHS and 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.
“I have seen how these simple blood tests can change the lives of babies and their families and being able to expand this further, is wonderful for children and their families.”
Whole genome sequencing works by looking for changes in genes in the seriously ill child’s DNA. This can help rapidly determine a diagnosis and opens up the possibility for thousands more patients to have their conditions cured completely, NHS England outlined.
For patients with more complex illnesses, the service will aim to provide the ‘best possible chance’ of reducing difficult complications sooner, boosting their quality of life.
Emma Baple, who runs the National Rapid Whole Genome Sequencing Service, said: "We know that with prompt and accurate diagnosis, conditions could be cured or better managed with the right clinical care, which would be life-altering – and potentially life-saving – for so many seriously unwell babies and children.
“This new service, which has been over five years in the making, is a huge step-change in what we can do for these children and their families, and it is an absolute privilege for us to play a part in helping to give children up and down the country the best care possible.”
Pritchard is also expected to announce the launch of the NHS’ first Genomics Strategy, a five-year plan to step up the use of genomic medicine within the NHS and help more people receive life-saving diagnoses and get the support and cutting-edge treatments needed to live with them.
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