Overview
- Freddie Underhay was identified at four weeks with hereditary retinoblastoma through the study and began laser treatment and chemotherapy at Birmingham Children’s Hospital, with doctors aiming to preserve his sight.
- Run by Genomics England with NHS England, the programme operates in 51 hospitals and is targeting up to 100,000 babies to assess benefits of newborn sequencing.
- More than 20,000 families have enrolled so far, and over 60 “condition suspected” findings have been returned to the NHS for confirmatory tests.
- Health Secretary Wes Streeting called the progress a landmark moment for preventative care and said the evidence could support making sequencing routine for newborns.
- Officials say earlier detection can speed treatment and improve outcomes, with the study focusing on more than 200 progressive conditions; retinoblastoma affects about 44 children a year in the UK.