Genomics England are partnering with the NHS to deliver the Generation Study, previously known as the Newborn Screening Programme. The study is expected to eventually include 100,000 newborns, across approximately 25 sites. On 3 October 2023, Genomics England published a list of the 223 conditions that will be tested for.
Genomics England said:
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 have undertaken significant engagement work to establish four principles that have guided them and NHS colleagues to identify the genetic conditions should be looked for, and fed back to families.
Genomics England are now in a position to share an initial 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, all of which are serious conditions and have a treatment or intervention available in early childhood in the NHS. We have shared a list and an overview of this process.
Importantly, this list may change - we are continuing to work with the NHS to ensure availability of treatments for these conditions, and that the genome sequencing technology used in the study can identify changes in the genes causing these conditions. This list may also change during the course of the study as new evidence emerges.
Dr Ngozi Edi-Osagie, Officer for Genomics and Chair of the RCPCH Genomics Working Group commented:
We are pleased to see the initial list of conditions that will be tested has been published. It is important to note that this list will be iterative as new evidence emerges. We are looking forward to continuing to engage with Genomics England on this programme.