In Brief: The UK launches a program to test whether whole-genome sequencing can speed up the diagnosis and access to treatment for babies born with genetic diseases
Currently in the UK, heel prick tests screen for nine specific conditions in newborns. The new program, the largest of its kind in the world, will sequence the genomes of 100,000 newborn babies. The aim is to define whether whole-genome sequencing can detect 200 disorders that affect 3,000 babies born each year in the UK.
The focus will be on conditions where interventions exist that could reduce disability or potentially avoid harm; for example, dietary shifts or vitamin supplements, says Mark Caulfield, vice-principal for health for the Faculty of Medicine and Dentistry at Queen Mary University of London, who leads the program. The program will be voluntary and run alongside the heel prick test.
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