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Update on Genomics England’s Newborn Genome Programme and Generation Study

3rd October 2023

Yesterday, Genomics England published their latest update on the Newborn Genomes Programme.

The Programme is delivering the Generation Study, in partnership with the NHS. The Study will explore the possibilities of genome sequencing in newborn babies, to identify a wider range of rare genetic conditions alongside routine heel prick newborn screening. The study will include 100,000 newborns, recruited across approximately 25 NHS sites. The first babies are expected to be enrolled into the study at the end of 2023.

A key decision for the Programme is to establish which conditions should be looked for in babies who take part in the Generation Study. To do this, Genomics England has undertaken significant engagement work to establish four principles that have guided it and NHS colleagues to identify the genetic conditions which should be looked for and fed back to families.

They have shared a list of conditions that each newborn who participates in the Generation Study will be tested for. This includes 223 conditions caused by genetic changes in over 500 different genes. This list may change during the course of the study as new evidence emerges, but they are all serious conditions and have a treatment or intervention available in early childhood in the NHS.

It is important that health visitors are aware of the Generation Study, given the focus of their work with families during pregnancy and the postnatal period. Advances in genomics will enhance the information that is currently provided to parents through the newborn heel prick screening programme. Health visitors currently provide a failsafe mechanism to ensure that babies do not fall through the gaps between services and support for families with a positive result.

For further information or discussion, you can contact the team at Genomics England at [email protected], including ‘Generation Study’ in the subject line.


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