The Generation Study is a research programme being led by Genomics England in partnership with the NHS.
The study aims to undertake Whole Genome Sequencing on 100,000 newborn babies to help understand whether we can improve our ability to diagnose and treat genetic conditions. 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.
The Generation Study has three main aims:
- Identify rare conditions in babies earlier. The Generation Study will evaluate the utility and feasibility of using Whole Genome Sequencing to screen newborn babies for a larger number of childhood-onset rare genetic conditions. This aims to improve their health outcomes and quality of life through more timely diagnosis and access to care and treatment.
- Enable wider research. With parents’ consent, the genomes and health data of the babies in the study will be stored within a secure database called the National Genomic Research Library. Approved researchers can access this data without knowing the babies’ identities, to enable wider research about genes and health, to improve diagnostics and treatments for genetic conditions in the future.
- Explore the risks and benefits of storing an individual’s genome over their lifetime. Genomics England and study researchers will continue to engage with the public, parents, healthcare professionals, rare disease communities and policy-makers, to explore the possible benefits, risks, ethical and practical implications of storing an individual’s genome over their lifetime.
The Generation Study screens for over 200 rare conditions, caused by variants in over 500 genes. The conditions being tested for:
- Usually appear in the first few years of life
- Can be improved if detected early
- Can be treated through the NHS in England
The list of conditions may change throughout the study in response to any new evidence that is found. The current list of conditions included in the Generation Study is available here. You can find out more about how the conditions were chosen here.
It is expected that around 1% of babies will be suspected of having one of the genetic conditions tested for in the study. In these cases, parents will be contacted by an NHS specialist clinician to explain the result, arrange confirmatory testing and start treatment where appropriate.
Around 99% of babies will not have any of the gene variants associated with the conditions being tested for in the study. Parents will be informed of this by Genomics England.
It is important to note that the study does not cover all health conditions – so it is important that parents still speak to their GP if they are worried about their baby’s health.
The Generation Study is running in a select number of NHS Trusts across England. Recruitment to the Study started in March 2024 and is currently expected to continue until the end of December 2026. Results will continue to be returned up until the end of March 2027.
Central and South Genomics is helping to deliver this study by:
- working to support NHS Trusts across our region who are currently recruiting to the study, or in the process of setting up to start recruiting
- supporting our regional results co-ordinators who are responsible for co-ordinating the return of condition suspected results to parents
- engaging with our local communities to raise awareness of the study, striving for equitable and accessible recruitment of participants from diverse backgrounds
- raising awareness of the study amongst our partners, support groups, clinicians and other healthcare staff across our region
You can find out which NHS Trusts are taking part in the Generation Study here.
For more information, please contact: