Case study: Genomics in the UK

Genomics has enjoyed consistent support from the UK government since 2012

In 2013, Genomics England was established. Its mission was develop and deliver the 100,000 Genomes Project, to demonstrate the utility of collecting and analysing whole genomes and associated health data from people with rare genetic disorders and some cancers, and to find diagnoses and improve knowledge about these conditions, with a view of offering tailored treatments. Volunteers were invited to share their whole genome sequences and associated health data, for research and clinical purposes. The 100,000th participant was recruited in December 2018. This data is now stored in the National Genomic Research Library (NGRL), curated by Genomics England.

The 100,000 Genomes Project succeeded in its mission, and led to the establishment of the NHS England Genomic Medicine Service (GMS) in 2018, the first of its kind in the world. The NHS uses whole genome sequences from patients (and in some cases, their parents or siblings) to inform their clinical care. These people also have the opportunity to share this data in the National Genomic Research Library (NGRL) for health research purposes, and a large majority of them choose to do so (over 80%).

You can read more about the 100,000 Genomes Project, Genomics England and NHS GMS via the links provided at the bottom of this step.

Genomics is now firmly embedded as an essential part of healthcare in England. The NHS 10 Year Plan was published in July 2025 and anticipates that by 2035, genomics could inform 50% of patient care. This could include such diverse initiatives as newborn screening, diagnostics, treatment, pharmacogenomics, and healthy ageing.

Patient advocacy in UK genomics

One of the striking things about the 100,000 Genomes Project, and the ongoing work of Genomics England, is the enduring partnership between the senior leadership team and representatives from the participant community.

The Participant Panel at Genomics England has been active since 2016. It is comprised of people who have consented to share their whole genomes and associated health data in the National Genomics Research Library (NGRL): patients and family members of people with rare genetic disorders and/or cancer. Panel members also sit on other decision-making bodies within Genomics England, including the Access Review Committee, Ethics Advisory Committee, and Research Network Committee, and the Panel Chair reports directly to the Chair of Genomics England. Further details can be found here.

Several members of the Participant Panel wrote an article for the European Journal of Human Genetics in 2022, sharing their perspectives on their advisory role at Genomics England and drawing out recommendations for successful advocacy in large healthcare organisations. We’ll come back to this in Week 4 of the course.

The NHS Genomic Medicine Service ‘People and Communities Forum’ was based upon the Panel model, and has been in place since 2020. The GMS website says:

…patient and public voice representatives play a vital role in developing, shaping and guiding policies and services. The Forum is made up of patient and public voice members from across the different governance and review groups in the NHS GMS… The forum meets quarterly and acts as a vital group to review and guide the development of policies, services and more. It also plays a key role in providing updates on issues being raised by patients, their families and support groups. (Source)

This model has been replicated by other bodies in UK genomics including some of the other major research studies. For example, Our Future Health has a Public Advisory Board, where members of the public who volunteer to share their genomes for research have an opportunity to influence the organisation – see here.

Professor Sir Mark Caulfield is one of the key people who has developed the field of genomics in the UK, and championed the role of patient and research participant advocates within it. In the next step, we’ll hear from him about this experience, and its lasting impact.