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.
There are at least 7,000 single gene disorders, most of which develop during early childhood.
Every year, several thousand children in the UK are affected by rare genetic diseases, but families often endure years of tests and uncertainty before they receive a diagnosis, as symptoms can develop slowly. By the time a diagnosis is confirmed avoidable damage may have been done.
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