Newborn Genomes Program: Whole genome sequencing for 100,000 UK babies leads to test for 200 disorders

Newborns to get rapid genetic disease diagnosis
Credit: St. Jude Progress Blog

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.

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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.

The list of genetic conditions which will be included in the new screening programme has yet to be finalised, but each of them will have a treatment which could alleviate the disorder.

Whole genome sequencing may also identify conditions that occur only later in life, such as some cancers.

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