Newborns to get rapid genetic disease diagnosis

Rare genetic disorders will be diagnosed and treated in babies thanks to a project to sequence the complete DNA of 100,000 newborns.

It should spare hundreds of families in England months, or years, of anguish waiting to find out why their children are ill.

The project is the first time that whole genome sequencing (WGS) has been offered to healthy babies in the NHS. It will screen for around 200 disorders, all of them treatable.

The Newborn Genomes Programme, to begin next year, is thought to be the biggest study of its kind in the world. If successful, it could be rolled out across the country.

Owen, 9, has an extremely rare genetic condition which affects his growth and development. Called THRA-related congenital hypothyroidism, it is one of the disorders which will be included in the new genetic test.

Father, Rob Everitt, told the BBC: "I think of all the hours we spent in hospital waiting rooms, getting referred around different departments, all the tests - some of which were quite invasive - that drew a blank every time. I lost count of how many doctors and consultants we went to see and how many tests they did on him."

Mother, Sarah Everitt, says getting the diagnosis was life-changing: "It was like winning the lottery….because we knew there was a treatment pathway; we knew we could get him support and he could attend a mainstream school."

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Source: BBC News, 13 December 2022