Baby diagnosed with rare cancer during screening in groundbreaking study
New screening tool helps detect rare eye cancer in baby
- A new genomic screening tool, the Generation Study, is being assessed for widespread use in England to screen newborns for genetic conditions.
- The study involves screening 100,000 newborn babies across 51 hospitals for over 200 rare genetic conditions using whole genome sequencing.
- Freddie Underhay, a six-month-old baby, was diagnosed with a rare and aggressive eye cancer (hereditary retinoblastoma) at just four weeks old, thanks to the study.
- Early detection allowed Freddie to receive prompt laser treatment and chemotherapy, with doctors hopeful of saving his vision, demonstrating the life-changing impact of early diagnosis.
- The findings from this research will inform the UK Government's long-term ambition to offer genomic sequencing to all newborns as part of routine care.