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New NHS genetic testing service ‘could save thousands of children’ in England

Very sick babies and children will be diagnosed and start treatment more quickly thanks to a “revolutionary” new genetic testing service being launched by the NHS.

Doctors will gain vital insights within as little as two days into what illnesses more than 1,000 newborns and infants a year in England have from the rapid analysis of blood tests.

Until now, when doctors suspected a genetic disorder, such tests have sometimes taken weeks as they had to be done in a sequential order to rule out other possible diagnoses, delaying treatment.

NHS England bosses say the service could save the lives of thousands of seriously ill children over time and will usher in “a new era of genomic medicine”.

The clinical scientists, genetic technologists and bioinformaticians will carry out much faster processing of DNA samples, including saliva and other tissue samples as well as blood. They will share their findings with medical teams and patients’ families.

“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,” said Amanda Pritchard, NHS England’s chief executive.

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Source: The Guardian, 12 October 2022

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