Recent advances in technology, and our understanding of genetics, presents an opportunity to explore the role genomics can play in expanding screening in early life. Whole genome sequencing (WGS) could significantly increase the diagnoses of genetic conditions, and would be particularly valuable if early detection reduces or avoids harm in early life or improves long term outcomes from genetic conditions. Genomics England is embarking on a new initiative to explore the potential for whole genome sequencing at birth through to genetic conditions and how it could enable research into diagnosis and new treatment.
This session describes Genomics England’s work with stakeholders and the public to understand the aspirations, concerns and considerations that need to be addressed and our future plans.
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