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.

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Baby diagnosed with rare cancer during screening in groundbreaking study