Genomics for newborns - information

The use of genomics, including newborn screening, is increasingly discussed in the policy space. The UK National Screening Committee has been working with Genomics England, who led a previous whole genome sequencing (WGS) initiative, the 100,000 Genomes Project, to look at a pilot research programme targeted at specifically sequencing newborns.

As these key organisations roll out these introductory programmes, we have brought together this short page to support members with information. It will be updated with further details once we have it.
Last modified
10 April 2024

What is the current Whole Genome Sequencing (WGS) for newborns programme?

In September 2020, the UK National Screening Committee (UKNSC) working alongside Genomics England, and UKRI’s Sciencewise programme commissioned the commencement of a work programme into whole genome sequencing for newborns. They undertook a short engagement project with the public and published a report on the public’s thoughts around WGS for newborns.

Following the public engagement, Genomics England started to look into the practical rollout of a programme. They have published a range of documents:

On 3 March 2022 we held a joint webinar with Genomics England to hear more about their plans. It featured an introductory briefing from the teams leading the project at Genomics England and three key themes led by paediatricians covering: key ethical considerations including consent, implications for the NHS paediatric workforce, and which diseases might actually be screened for. Read a synopsis of or watch the webinar.

What are the most recent updates?

The Genomics England Programme is delivering the Generation Study (previously known as the Newborn Screening Programme) in partnership with the NHS. The Study will explore the possibilities of genome sequencing in newborn babies, including to identify a wider range of rare genetic conditions alonside routine heel prick newborn screening. The study will include 100,000 newborns, recruited across approximately 25 NHS sites. The first babies are expected to be enrolled into the study at the end of 2023.

Which conditions will be tested for? 

Genomics England have now shared an initial list of conditions that each newborn in the Generation Study will be tested for. This includes 223 conditions caused by genetic changes in over 500 different genes, all of which are serious conditions and have a treatment or intervention available in early childhood in the NHS. Genomics England have shared this list as well as an an overview of the process

Importantly, this list may change - Genomics England are working with the NHS to ensure availability of treatments for these conditions. The list may also change as new evidence emerges.

What is the RCPCH views on WGS of newborns?

WGS of newborns is seen by many as a step-change in the way the NHS could provide care and health services to newborns, and families, across the UK.

At Royal College of Paediatrics and Child Health we recognise the significant impact that the Generation Study / Newborn Screening Programme may have on detecting and treating child health conditions that are actionable at a young age.

However, we are also clearly aware of the need for wider discussions regarding the implementation and provision of such genomics services. Members have highlighted that there are potential impacts on the NHS workforce, practical considerations on what diseases to test for and follow up work around those as well as key questions around ethics and consent. We believe that equity of access and provision of services is essential for best care delivery.

We believe there are more discussions to be had. As such we are keen to work closely with Genomics England on their Programme in order to best support our paediatric workforce in enabling delivery of the best quality of care for children and young people.

How can you get involved in our work on WGS for newborns?

We want to work with interested paediatricians on this growing topic. We have a working group, chaired by the Officer for Genomics, which works collaboratively to consider the key and arising issues, policy and activity needed to support paediatrics and child health.

Please keep your eye out on our events pages, eBulletins and social media for further information.

For any queries, please contact us