Genomics for newborns, children and young people - FAQs

The use of genomics, including newborn screening, is increasingly discussed in the policy space. We know that 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 Frequently Asked Questions (FAQs) document to support members with information. It will be updated with further details once we have it.
Last modified
12 December 2022

What is the current 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 RCPCH’s views on WGS of newborns?

Whole Genome Sequencing 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 the Royal College of Paediatrics and Child Health we recognise the significant impact that the 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 Newborn Genomes 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 recently launched a working group, chaired by Dr Ngozi Edi-Osagie, Consultant Neonatologist and our Officer for Genomics. This group will work collaboratively to consider the key and arising issues, policy and activity needed to support paediatrics and child health.

We will also be putting together further information for our members in due course, including hosting a second webinar on 20 January 2023 on updates, developments and future perspectives of whole genome sequencing and newborn screening. Registration for the webinar is open.  

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

For any queries, please contact the Project Manager - Genomics on: