Long Read Sequencing - Babies in Focus

Genomics England, in partnership with the NHS and other stakeholders, is co-designing and delivering a national research study, the Generation Study, involving up to 100,000 newborns to understand the role of whole genome sequencing (WGS) to achieve more timely diagnosis of rare conditions and access to early intervention, enabling faster and better care for babies born with rare childhood onset diseases. The Generation Study aims to assess the benefits, challenges, and feasibility of integrating whole genome sequencing into newborn screening to enhance the early diagnosis and treatment of rare genetic conditions. If successful, the study could establish the foundation for the world's first…