2025 Agenda

Generation Study: unlocking genomic insights to improve outcomes for babies with rare disease

11 Jun 2025
Life sciences and research theatre
Innovation, life sciences and research , Maternity, neonatal and women’s health

This session will explore the Generation Study, a world-leading study in NHS hospitals that aims to screen up to 100,000 newborns in England. The study, led by Genomics England in partnership with NHS England, is offering newborn babies whole-genome sequencing using blood samples that are usually taken from their umbilical cord shortly after birth.

Panellists will share insights into the study’s progress, challenges and impact. Attendees will gain an understanding of how the Generation Study has the potential to shape the future of healthcare for rare conditions, with a focus on real-world applications in NHS settings.

Rich Scott
Dr Rich Scott, Chief Executive Officer - Genomics England
Sue Hill
Professor Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics - NHS England
Kirsty Hoyle
Kirsty Hoyle, Chief Executive Officer - Metabolic Support UK
Amanda Pichini
Amanda Pichini, Clinical Director - Genomics England