The UK’s genomic future


On 26 September the UK government published a new ten year strategy: Genome UK: the future of healthcare. It sets out a vision to extend the UK’s leadership in genomic medicine and research – fostering a world-leading ecosystem of genomic healthcare. The strategy sets out a plan for how the UK intends to bring together the latest advances in genomic science and allied research and technology, to offer patients the best possible care.

The plan is built on three pillars around the implementation of genomics in healthcare:

  • Utilising genomics to diagnose disease at an earlier stage to enhance patient outcomes and to identify the most appropriate avenue for treatment.
  • Enabling diagnosis of hereditary diseases at an earlier stage to enable preventative treatment and research in rare diseases.
  • To enhance the link between genomic research, clinicians and industry by improved data and knowledge sharing agreements.
Diagnosis and personalised medicine

The recently established NHS Genomic Medicine Service and the National Genomic Informatics Service will play a leading role in integrating genomic medicine into routine NHS care by 2025 by offering whole genome sequencing (WGS) as an integrated part of NHS clinical service. The service will be offered to patients with specific cancers or rare diseases where pharmacogenetic testing would result in a pharmacogenomics profile being part of a patient’s medical record, in turn optimising individual treatment. Beyond cancer and rare diseases, the strategy seeks to build upon pathogen WGS – a process that has already resulted in the COVID-19 Genomics UK Consortium sequencing more than 50,000 SARS-CoV-2 genomes to better understand transmissions, immune responses and the emergence of any mutations.

Preventative medicine

Predictive and preventative care will be utilised to improve public health through early screening for rare and hereditary diseases, and targeted screening for those at risk to enable whole genome sequencing of those affected. It is ambitious, with an aim of including 5 million diverse participants in the Accelerating Detection of Disease research programme. This programme will build on the UK’s significant genome variants library and through the use of “polygenic risk scores”, is anticipated to lead to greater disease prevention: genomic prevention.

This pillar is in two streams: enabling screening in new-borns and secondly targeted screening in children and adults. This will enable screening of family members of cancer patients such as in breast cancer prevention and others at high risk of familial disease. There is also an expectation of non-invasive prenatal screening utilising circulating cell-free foetal DNA (ccffDNA) which is already offered in Wales.

Research and industry collaboration

The final pillar builds on the collaborations already established between research and industry in healthcare in the UK and recognises the need for over-sampling to remedy the ethnic bias which currently exists in most large genetic datasets. The policy envisages that diverse patient data is at the heart of the initiative. This requires appropriate data protection and consent structures and the continuation of decreasing sequencing costs and improved computing power to allow ground breaking research and enhancement of public health to take place.

It is perhaps in this third pillar that the most significant and sensitive legal challenges exist. The planned federation of datasets and infrastructure from the NHS, UK Biobank and Genomics England and unified bioinformatics standards is intended to keep the UK at the forefront of genomic developments. But to successfully achieve this, consent mechanisms that can accommodate clinical and research purposes (such as the hybrid patient choice model used for WGS) will need to be compatible with the stringent requirements of the GDPR. These complexities will be amplified when the immense opportunities for AI and machine learning are grounded in access to these data sets. How the UK Government navigates these, while still creating a viable ecosystem for big pharma, bioinformatics companies and the rest of the life sciences and genomic industries will determine whether it can realise its aim of leading the world in genomics innovation and the realisation of the potential of genomic medicine at scale.