Last updated on March 6th, 2024 at 12:12 am
What is the Generation Study?
The Generation Study is a research study being organised by Genomics England in partnership with NHS England. It will investigate whether whole genome sequencing can be used as a screening tool to screen newborn babies for a larger number of childhood-onset genetic conditions than are currently screened for through the NHS
The Study will sequence and analyse the genomes of 100,000 newborn babies in England to look for certain treatable genetic conditions.
Which babies will be included in the study?
The study is due to start recruiting soon (Feb 2024) and is expected to run until around April 2025. There will be an initial 5 NHS Trusts participating in the study with up to 40 Trusts joining over time.
Parents attending maternity services in participating NHS Trusts will be informed about the study when their pregnancy reaches 20 weeks. They will be given the choice whether to participate in the study or not.
Why is the Study being done?
The Study is aiming to gather evidence on whether whole genome sequencing can be used to screen newborns for rare genetic conditions, and to assess the feasibility of doing this within the NHS.
The evidence generated could help to demonstrate how screening for a larger number of conditions could contribute to timely diagnoses, earlier access to care and treatment pathways, and support better outcomes for babies and their families.
What conditions are going to be screened for?
Over 200 conditions caused by over 500 genes have been selected for screening as part of the Study.
The list of conditions that will initially be screened for during the research study can be found here:
The conditions have been selected on the basis of four criteria agreed through stakeholder engagement. These are:
- There is strong evidence that the genetic variant(s) causes the condition and can be reliably detected.
- A high proportion of individuals who have the genetic variant(s) would be expected to have symptoms that would have a debilitating impact on quality of life if left undiagnosed.
- Early or pre-symptomatic intervention for the condition has been shown to lead to substantially improved outcomes in children, compared to intervention after the onset of symptoms.
- Conditions screened for are only those for which the interventions are equitably accessible for all.
The list of conditions being screened for may be subject to change during the Study.
What newborn screening does the NHS already offer to everyone?
All babies in the UK are eligible for screening for 9 conditions. This screening is done via the Newborn bloodspot screening test or heal prick test. This involves collecting a small amount of blood on day 5 of life from a heel prick which is then applied to a blood spot card. This sample is then sent to a biomedical science laboratory for testing.
It is important to know that the Newborn Blood Spot Screening is part of routine care in the NHS and is not a research study. Whether or not you decide to take part in the Generation Study you can still access Newborn Blood Spot Screening.
What are Gene People doing to support the study?
We are working with Genomics England and NHS colleagues to ensure that our community is aware of the Study, kept up-to-date and that those taking part receive the support they need.
Where can you find out more about the Study?
The G Word podcast:
You can also contact our helpline: 0800 9878985 or email helpline@genepeople.org.uk
