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Newborn Genomes Programme

We are co-designing and running an ethics-approved research pilot embedded in the NHS to explore the benefits, challenges and practicalities of sequencing and analysing the genomes of newborns.

Newborn baby being kissed by mother and yawning

The vision

Our increasing ability to harness the power and benefits of sequencing and analysing genomes for our healthcare could provide an opportunity to expand newborn screening from the present 9 conditions offered in the UK to many more rare diseases.

We are beginning a journey with parents, the public and health professionals to explore the many practical, ethical and societal questions around harnessing the power and benefits to diagnose and treat rare disease in newborns.

Download the Newborn Genomes Programme Vision

Aims of the programme

Identify rare diseases in babies

The programme will evaluate the feasibility, and impact on the NHS of offering WGS for all newborns.

Enable research

We'll aim to understand how the genomic and health data could be used to improve knowledge and treatments.

Create lifetime resource

We'll explore the potential risks and benefits of storing an individual’s genome over their lifetime.

Potential benefits

Early diagnosis and care for childhood-onset rare genetic conditions

Building on the principles of the NHS newborn screening programme, up to 200,000 babies’ genomes will be sequenced and analysed for a set of actionable genetic conditions which may affect their health in early years. This aims to ensure timely diagnosis, access to treatment pathways, and enable better outcomes and quality of life for babies and their families.

We will work with parents, the multi-professional NHS workforce and other experts to co-design care and support pathways, examine how this can be delivered and resourced, and to develop principles that define actionability and which conditions to include. ‘Actionable’ in this context means there is something we can do about it.

Enabling research and new treatments for NHS patients

With parents’ consent, babies’ genomes will be de-identified and added, alongside their health data, to our National Genomic Research Library. This will enable vetted academic, clinical, and biopharma healthcare researchers to improve understanding of health and disease, develop new diagnostics and treatments, and understand how current therapies can be improved or repurposed.

Building on our existing governance practices for data protection and access, we will collaborate with experts, families living with rare genetic conditions, and the wider public to ensure this data is accessed and used appropriately, now and in the future.

Exploring the potential of a lifetime genomic record

Storing babies’ genomes securely, regardless of their newborn screening outcome, could allow them to be reanalysed as needed, potentially enabling access to new developments in genomics throughout their lifetime.

We will explore the benefits as well as the ethical and practical implications of storing participants’ genomes; how and when it’s appropriate for participants’ data to be reanalysed in accordance with their choice; and the impact on them and their future clinical care.

Building on our existing knowledge and expertise

Working in partnership with NHS England to deliver the 100,000 Genomes Project and the NHS Genomic Medicine Service, we have already established the infrastructure to support the use of whole genome sequencing, and the diagnostic and treatment pathways for children and adults with symptoms, and have developed the sequencing and analytical tools to ensure a safe and effective service. We want to build on these strong foundations.

Our engagement so far

We have been working with a diverse range of communities and groups to understand the ambitions and concerns about using genomics in this way. We will continue to work with them to explore these and to define the key themes and questions we need to look at when designing the pilot.

Public dialogue

Together with the UK National Screening Committee, we commissioned an in-depth national dialogue involving a diverse group of 130 members of the public, including individuals with genetic conditions, new/expectant parents, ethnic minorities, and young adults. This initial piece of work found high levels of support and excitement for a pilot, and uncovered some concerns which were fed into our vision. The report and findings were launched in July 2021 at an event attended by 1000+ members of the public.

Expert interviews and engagement

We have interviewed a number of communities with expertise across maternity healthcare, genomic healthcare, ethics, and people with lived experience, in order to road-test our vision and prioritise issues. We will keep talking and listening to the public and experts, and working with bodies such as medical Royal Colleges to obtain the right kind of specialist input. At the same time, we’ll collaborate with parents, families with rare genetic conditions, and professional experts to co-design key elements of the process and ensure equitable access for all communities.

NHS Steering Group

An NHS Steering Group provides support to develop the programme and its design, and understand what is necessary to support the potential rollout of a NHS Newborn WGS service. The group shares ideas, concerns, and expectations as key themes are developed for the design and potential rollout of a pilot.

Jessica's story

Jessica's GLUT1 deficiency syndrome was only identified after years diagnostic exploration. The Newborn Screening Programme will help children like Jessica to start living healthier lives sooner.

Read more about Jessica's story

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