The Newborn Genomes Programme
What is it?
Genomics England’s Newborn Genomes Programme is delivering a large-scale NHS-embedded research study called the Generation Study. This will start at the end of this year subject to research ethics committee approvals.
The study is being co-produced with, and involving, potential participants, healthcare professionals, researchers, patient organisations, and members of the public. Co-production is central to the Generation Study. This approach is supporting the Newborn Genomes Programme to deliver and design the study with stakeholders’ views, interests, and concerns in mind.
It is estimated that 1 in 17 people will develop a rare genetic condition during their lifetime.[1] These conditions are often diagnosed in early childhood, but diagnoses can take a long time, leading to “diagnostic odysseys” that can be difficult for children and their families.
“Diagnostic odyssey” is a term used in genomics to describe the often long period of time it can take for a patient to receive a diagnosis for their condition. Sometimes patients will have many different medical tests and investigations, which may be painful and invasive. These contribute to the patient’s “diagnostic odyssey” which may last many years and include several misdiagnoses. Genomic testing to identify and diagnose rare genetic conditions earlier in newborn babies has the potential to mitigate these “diagnostic odysseys”[2], so that, where appropriate, NHS treatments or interventions could be offered sooner
What are the aims of study?
The Newborn Genomes Programme’s Generation Study will aim to:
- explore the benefits, challenges, and feasibility of sequencing newborns’ genomes for a larger number of childhood-onset rare genetic conditions
- understand how babies’ genomic data could be used for discovery research, focusing on developing new treatments and diagnostics for NHS patients
- explore the potential risks, benefits, and broader implications of storing a baby's genome over their lifetime
The study will run alongside the routine newborn blood spot screening programme (heel prick test), which is currently offered to all babies in the UK and tests them for 9 rare conditions.[3] The Generation Study will use genome-sequencing technology to look for around 200 rare genetic conditions. The conditions included in the study occur in early childhood and have an intervention that would be available in the NHS and that could either cure, delay, or modify the course of the condition.[4]
Where will the study take place?
The Government has awarded Genomics England £105m to deliver the study across a selection of NHS Trusts in England.[5] At least one Trust from each of the seven GMSA (Genomic Medicine Service Alliance) regions will be invited to join the study. These Trusts will be carefully chosen to make sure they vary in size and setting and are spread across England. It is likely that the study will only run in 5-6 trusts in the first instance, with more joining the study later in 2024.
At participating Trusts, parents will be invited to take part in the study about halfway through their pregnancy, so that they have time to make an informed decision before their baby is born.
Who will be invited to participate in the study?
Mothers or birthing parents at the study sites will be able to agree to their babies’ participation in the Generation Study if they:
- Are 16 years or older
- Have an NHS number
- Are able to consent to their own medical treatment
- Are pregnant with only one baby (not twins or triplets) - however, it is expected that multiple pregnancies will be included later in the study.
- Have a permanent home address where they live currently
The Generation Study has been designed to give plenty of time for babies’ families to ask questions and consider their participation in the study during the pregnancy or birthing period.
How and when will samples be taken?
In 2022, the Newborn Genomes Programme ran the “Baby and Mum Samples Study” to identify the best way to take a sample from a baby to sequence their genome.[6] The diagram below shows how samples for The Generation Study will be collected. 
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