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Launch of the Newborn Genomes Programme

The Newborn Genomes Programme is the world’s first large-scale research programme to explore in detail the benefits, challenges, and practicalities of using whole genome sequencing (WGS) in newborns.

Genomics England is to receive funding from the government to gather data and evidence on the effectiveness, and potential ways of implementing, whole genome sequencing to find and treat rare genetic diseases in babies. This will be done through a research study run in partnership with the NHS and embedded in a number of hospitals across the country.

The study will examine the potential of using genomics to significantly increase the diagnosis of genetic conditions. This is particularly valuable if early detection can reduce or avoid harms in early life and improve long-term outcomes.  

Since 2021, Genomics England has been co-designing this NHS embedded research study which will build on the UK’s strengths in genomic infrastructure and expertise to determine whether, and how, sequencing should be implemented in newborns.

This SMC briefing outlined the aims of the Newborn Genomes Programme and discussed work undertaken to tackle the technical and ethical issues such a programme entails.

 

Speakers included:

Dr Rich Scott, Chief Medical Officer, Genomics England 

Dr David Bick, Principal Clinician ‑ Newborn Genomes Programme, Genomics England 

Amanda Pichini, Clinical Lead for Genetic Counselling, Genomics England 

 

This Briefing was accompanied by an SMC Roundup of Comments.

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