Exploring the use of whole genome sequencing (WGS) for newborn babies

Father holding baby

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.

But there are many practical, ethical and societal questions to address before such a programme could be introduced. We are beginning a journey with parents, the public and health professionals to carefully explore these questions.

The Newborn Genomes Programme will explore how, and whether, to offer whole genome sequencing (WGS) to all newborns to accelerate diagnosis and access to treatments for rare genetic conditions. The programme has three distinct but related aims:

  1. Evaluate how and if whole genome sequencing can be used to screen for a larger number of childhood-onset rare genetic conditions in newborns, including what support they will need, and how this would affect the NHS.
  2. Understand how, with consent, the genomic and health data could be used for research to enable new diagnostic discoveries and treatments to be developed.
  3. Explore the potential risks, benefits, and broader implications of storing an individual’s genome over their lifetime

With these aims in mind, we think that the time is right to co-design and run an ethics-approved research pilot embedded in the NHS to gather this evidence.

The programme will not include antenatal/prenatal screening using genomics, nor look for conditions or ‘risk factors’ that only affect adults.

Newborn Genomes Programme Vision DocumentIn December 2021, we published a vision document which outlines our aims for the programme, developed following public and expert dialogues.

It outlines initial design themes, our engagement so far, and the iterative, collaborative approach we will take over the coming years.

The document also contains a summary of themes that have been identified that will be prioritised during this initial phase.

Download a copy of the Newborn Genomes Programme vision document (PDF, 5.5MB)

What might the potential benefits be?

The vision for our programme is to understand if and how we can use WGS in newborns for:

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 life sciences 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. We will not allow data to be used or shared with anyone other than for the purposes of improving healthcare.

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

In September 2021 we launched our vision for the Newborn Genomes Programme at an event in London. This video describes our work with stakeholders and the public to understand the aspirations, concerns and considerations that need to be addressed, and our future plans.

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 over 130 members of the public from a range of backgrounds and places within the UK, 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 over 1000 members of the public. Read more about the public dialogue and its findings

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.

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.

Keeping up to date

If you would like Genomics England to keep you informed of any events or announcements relating to our work on genomics and newborn screening, please sign up to our newborns mailing list using this link