The Generation Study
Research type
Research Study
Full title
The Generation Study
IRAS ID
324562
Contact name
Richard H Scott
Contact email
Sponsor organisation
Genomics England
Duration of Study in the UK
17 years, 0 months, 1 days
Research summary
Each year in England, about 3,000 babies are born with one of about 200 genetic conditions that are treatable in early childhood. Nine of these conditions are currently looked for in the NHS newborn bloodspot test. But there are many more conditions where earlier diagnosis and treatment could help.
This study investigates the genomes of newborn babies to see if we can find and treat rare genetic conditions early. A genome is a person’s entire genetic sequence – the body’s instruction manual. We want to see if, by testing babies genomes, we can bring forward any standard treatment and management of the rare conditions on our list.
The study will take place in 25-40 NHS Hospitals in England, where these hospitals support it, this will include homebirths. Parents will be asked if they want to take part while they are pregnant. If they consent, a sample of blood from the umbilical cord, and saliva will be taken from the baby after they are born. In some rare cases a heelprick maybe required. These samples will have DNA extracted that will be analysed by scientists to look for around 200 rare genetic conditions that can be treated early in childhood. Results will then be sent to parents. If a condition is suspected, the baby will be referred to the NHS for confirmation testing and management. We think only 1% of newborns will be suspected to have a condition.
We'll safely store the samples, genome sequence, antenatal data and regular updates from baby’s healthcare record in our REC approved database the National Genomic Research Library (NGRL). Approved researchers will study this data to learn more about genes and health – without knowing the identity of the baby. When the child is 16 years old they can choose whether to stay in the NGRL.REC name
East of England - Cambridge Central Research Ethics Committee
REC reference
23/EE/0044
Date of REC Opinion
23 May 2023
REC opinion
Further Information Favourable Opinion