The East GMSA will be collaborating with Genomics England in delivering the ‘Generation Study’, formerly known as the Newborn Genomes Programme.
This project will evaluate the potential of identifying actionable childhood-onset rare genetic conditions following birth, by sequencing and analysing 100,000 babies’ genomes.
This could contribute to improved outcomes and quality of life for babies and families.
Aims of the Generation Study
The Generation Study has three main aims:
- To evaluate the utility and feasibility of screening newborns for several childhood onset rare genetic conditions using genomic technologies.
- To understand how genomic data could improve knowledge and treatments.
- To explore potential risks and benefits of storing an individual’s genome over their lifetime.
See also Genomics England's Generation Study Vision document (opens in a new tab).
Who are we working with?
This is a national study being led by Genomics England (opens in a new tab). You can find out more about the Generation Study on their website:
- Overview (opens in a new tab)
- How we work (opens in a new tab)
- Engagement (opens in a new tab)
- Ethics (opens in a new tab)
- Choosing conditions (opens in a new tab)
- Baby and Mum Samples Study (opens in a new tab)
A full list of NHS Trust pilot sites will be released shortly, and updated here.
Progress so far
We held a dedicated education and training session as part of our Genomics BITEs series. The session was delivered by Sally Shillaker, Clinical Content Developer at Genomics England. You can watch the recording below.
- Genomics England have announced an initial list of 223 individual conditions to be included in the Generation Study. (opens in a new tab)
- A Frequently-asked questions (FAQ) document (opens in a new tab) has also been put together to address questions that have emerged from healthcare professionals about the design and operation of the Generation Study. It is a ‘living document’ which will be updated every two months so that further responses can be included.
Recording of an NHS East Genomics session on the Generation Study, delivered by Sally Shillaker from Genomics England in July 2023
- Genomics England Generation Study web pages (opens in a new tab)
- Generation Study Vision document (opens in a new tab)
- Our July 2023 Nursing and Midwifery newsletter on the Generation Study (opens in a new tab)
- Initial list of 223 conditions included in Generation Study (opens in a new tab)
- Generation Study FAQ doc for healthcare staff (opens in a new tab)