The Generation Study is a ground-breaking research study which will sequence the genomes of 100,000 newborn babies. The study is being run by Genomics England in partnership with the NHS to help to understand whether we can improve how we diagnose and treat rare genetic conditions.
The Generation Study will evaluate the utility and feasibility of using genome sequencing to screen newborn babies for more than 200 rare conditions that can then be treated in the NHS. This aims to improve their health outcomes and quality of life through more timely diagnoses, access to care and treatment.
The Generation Study is a national study. In the South West, the first baby was recruited to the study at University Hospitals Bristol and Western NHS Foundation Trust (UHBW) in March 2024. Now, the study is expanding to include Central Bristol, North Bristol, North Somerset, South Gloucester, Gloucestershire, Exeter, Barnstaple, Plymouth and Truro.
The study is for research purposes and will run alongside current NHS care. Babies should continue to be offered the NHS newborn blood spot screening test as normal.
About the Generation Study
What is the aim of the study?
The study has three main aims:
Identifying rare conditions in babies earlier
The Generation Study will evaluate the utility and feasibility of using genome sequencing to screen newborn babies for more than 200 rare conditions that can then be treated in the NHS. This aims to improve their health outcomes and quality of life through more timely diagnoses, access to care and treatment.
Enabling discovery research
With parent’s consent, babies’ genomes and health data will be accessed for wider research about genes and health, so we can investigate new testing and treatment for genetic conditions in the future. Approved researchers can access this data in a secure database called the National Genomic Research Library but will not know the babies’ identities.
Exploring the risks and benefits of storing an individual’s genome over their lifetime
Researchers will continue to engage with the public, parents, healthcare professionals, rare disease communities and policymakers to look at the possible benefits, risks, ethical and practical implications of storing an individual’s genome over their lifetime.
How many conditions is the study testing for?
The study will be testing for more the 200 rare conditions. The conditions that have been chosen usually appear in the first few years of life, can be improved if they are caught early and can be treated through the NHS in England.
To find out more about how the conditions the study is screening for were chosen, you can have a look at the Genomics England ‘Choosing Conditions’ page and at the ‘Conditions List’ page on the website. https://www.generationstudy.co.uk/
How is the study different from NHS newborn screening?
Every baby in the UK is currently offered the NHS newborn blood spot test. This looks for nine rare, serious and treatable health conditions. The Generation Study is for research and is separate from the NHS newborn blood spot screening programme. All babies should continue to be offered the blood spot test as normal.
Who else is involved in running the study?
The study has been developed following extensive consultation with the public, parents and families affected by rare conditions as well as healthcare professionals, policy makers and scientists. The results will add to evidence that will inform future decisions on using whole genome sequencing to support newborn screening. This includes using it to accelerate diagnosis and access to treatments for rare conditions.
We are also providing funding to each regional NHS Genomic Medical Service. We are working with the GMS’s to deliver the study. The funding is to enable them to appoint additional staff to support the study and facilitate the onward referral of families with a ‘condition suspected’ finding to the relevant NHS care pathway.
As the [insert Trust] is based in the South West, the South West Genomic Medicine Service is supporting the study in your local area.
How can I express my interest in taking part?
If you are expecting a baby and are interested in being involved in the Generation study, speak with your community or hospital-based care team to find out more.