A baby born with a rare eye cancer — typically diagnosed only after symptoms develop in early childhood — is among the growing number of newborns receiving earlier diagnoses and life-changing treatment through the Generation Study. This world-leading research programme, led by Genomics England in partnership with NHS England, uses whole-genome sequencing (WGS) to screen 100,000 newborns for over 200 rare genetic conditions.
The Generation Study forms a central part of England’s 10-Year Health Plan, generating vital evidence to inform the government’s ambition to offer genomic sequencing to all newborns as part of routine NHS care. This evidence will help determine how genomics could be safely and effectively integrated into national screening to enable earlier detection and treatment of serious childhood conditions.
To date, more than 20,000 families have joined the study, with over 60 “condition suspected” results returned to NHS teams for confirmatory testing. Running across 51 hospitals in England, the study sequences each baby’s genome from a small blood sample taken shortly after birth. While the entire genome is read, analysis is limited to genes known to cause specific early-onset, treatable rare conditions.
Launched in 2024 and continuing until 2027, the Generation Study is already identifying conditions earlier. Approximately 1% of participants are expected to be identified as having a suspected condition. The results will provide critical insight into whether whole-genome sequencing should be introduced alongside the existing newborn blood-spot test, shaping the future of newborn screening in England.
