Challenges of using whole genome sequencing in population newborn screening
Rachel Horton and colleagues argue that making sense of genomic variation in newborn babies is difficult, so the UK Generation Study will analyse only a tiny proportion of the genome. Why then is it collecting entire genomes? In the UK, newborn screening is offered under the oversight of the National Screening Committee.1 Heel prick blood spots are currently tested biochemically for nine conditions for which early treatment, before symptoms, improves outcome. The NHS embedded Newborn Genomes Programme (recently renamed the Generation Study) aims to “detect hundreds more rare, treatable diseases in [the] first years of life”2 and builds on the ambition outlined by the UK health secretary in 2019 “that eventually every child will be able to receive whole genome sequencing along with the heel prick test … We will give every child the best possible start in life.”3 The Generation Study aims to screen at least 100 000 newborn babies for several hundred potentially treatable rare diseases th