Genetic testing service to provide rapid, life-saving checks for children

Thousands of severely ill children and babies are set to benefit from a national genetic testing service launched by the NHS.

The new service is able to rapidly process DNA samples from children and babies, who are seriously ill in hospital or are born with a rare disease. This means a diagnosis can be reached within days rather than weeks, potentially saving lives.

Children in intensive care often have to undergo several tests, the results of which take weeks to come back. With the new service, they will just need a blood test, for which the results will take days.

Whole genome sequencing works by looking for changes in genes in DNA.

The service will be based in Exeter and was launched as part of the NHS Genomics Strategy at the inaugural Genomics Healthcare Summit in London.

Amanda Pritchard, NHS chief executive, 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.

“When a child comes to intensive care timing is everything, so finding the right diagnosis and treatment as quickly as possible is absolutely vital, and I am delighted that the pioneering work of the NHS’ Genomic Medicine Service is transforming the way we diagnose and treat patients in England.

“The NHS is recognised worldwide as a world leader in genomics, and this new service proves just that — it also builds on our Long Term Plan commitment to deliver the most medically advanced services possible for all our patients — boosting the life chances of thousands across the country”.

Image: Pixabay

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