Scientists have raised concerns about a proposed overhaul of newborn screening that could lead to the UK becoming the first country to offer whole-genome sequencing for every baby. From a report: Speaking before the publication of plans for an NHS pilot study in which up to 200,000 babies’ genomes will be sequenced and analysed, scientists suggested the initiative appeared designed to create a valuable health dataset rather than an effective method of improving the diagnosis of rare diseases. Anneke Lucassen, director of the Centre for Personalised Medicine at the University of Oxford, said that if the primary objective were improving newborn screening, there were alternative, more targeted tests that would be cheaper and potentially more reliable.
“If it was really all about [diagnosing more conditions], you could do that through other means,” she said. “It’s about helping to build the genomics industry in the UK and it’s about creating a research resource so we can study people as they grow older.” Lucassen said she was not opposed to the pilot, or even necessarily to these objectives, but wanted more transparency,
“because otherwise it’s sold as something that is not the full picture. The public needs to know that,” she added. Sequencing the genomes of all newborns would represent a hugely ambitious upgrade to the routine “heel prick” test that all babies receive at about five days to detect nine serious health conditions including cystic fibrosis, sickle cell disease and various metabolic diseases.