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UK launches whole-genome sequencing pilot for babies

Nature Biotechnology volume 41, page 4 (2023)Cite this article

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.

The UK Government also announced $32.3 million to fund the Cancer 2.0 Initiative to evaluate whether sequencing combined with artificial intelligence can improve cancer diagnosis and response to treatment. Another $27.3 million will go to the Diverse Data program to sequence the genomes of 15,000–25,000 people from diverse ancestry to help reduce inequalities in genomic medicine.

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UK launches whole-genome sequencing pilot for babies. Nat Biotechnol 41, 4 (2023). https://doi.org/10.1038/s41587-022-01644-0

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