NHS England to screen 100,000 babies for more than 200 genetic conditions

The NHS in England is to screen 100,000 newborn babies for more than 200 genetic conditions in a world-first scheme aimed at bolstering early diagnosis and treatment.

All new parents are currently offered a blood spot test for their babies, normally when the child is five days old, to check whether they have any of nine rare but serious conditions. The newborn’s heel is pricked to collect a few drops of blood on a card that is sent away to be tested.

Now, as part of a large-scale research study, 100,000 newborns will be offered much more advanced tests of the whole genome sequencing using blood samples typically taken from the umbilical cord shortly after birth.

“Diagnosing rare conditions in newborn babies at the earliest opportunity through genomic testing could be truly life-changing for families,” said Amanda Pritchard, the chief executive of NHS England.

“It has the potential to give thousands of children the chance to access the right treatment at the right time, giving them the best possible start to life, and for families to better plan for their care.”

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Source: The Guardian, 3 October 2024