What is whole genome sequencing at birth?
A genome is a complete set of genetic material or genetic information. Sequencing the whole genome of a newborn baby means establishing the precise order in which millions of chemical components (represented by four different letters) occur within the baby's DNA.
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Why sequence whole genomes at birth?
By analysing a newborn baby's genome sequence, scientists and doctors can potentially diagnose and treat hundreds of genetic conditions before symptoms appear. This approach to diagnosis supplements the newborn blood spot test (also called the 'heel prick test') that is currently used to check for nine rare but serious conditions in UK newborns.
Who is sequencing whole genomes at birth?
In the UK, a project called the Generation Study is currently sequencing the whole genomes of 100,000 newborns, to explore the benefits and risks of using such an approach. The UK Government has stated, in its Ten-Year Health Plan for England, that it hopes to offer whole genome sequencing for all newborns in England within the next ten years.
Can I get my baby’s whole genome sequenced?
The pros and cons of whole genome sequencing at birth are still being assessed. This will take time, and will involve the development of new expertise and knowledge. In the UK, whole genome sequencing at birth is currently available only at hospitals participating in the Generation Study.
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