For many years, the mainstays of neonatal screening have comprised the neonatal blood spot test, which screens for just 9 conditions, along with neonatal hearing testing and the physical examination. The Generation Study, run by Genomics England in partnership with the NHS in England, will evaluate genome sequencing to screen newborn babies for more than 200 treatable rare conditions. Universal genome sequencing at birth, if implemented, would represent one of the biggest shifts within healthcare for decades.
The Generation Study – Changing lives and building the evidence for a preventative future
October 2025
David Bick provides an update on Genomics England’s research into genomic sequencing at birth.