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Genome UK: The future of healthcare

Genome UK

The UK has launched its new National Genomic Healthcare Strategy, with the goal of cementing its status as a global leader in genomics. ‘GENOME UK: The Future of Healthcare‘ sets out a clear plan to provide world-leading, genomics-driven healthcare to patients in the UK. Initially announced in February 2019, the strategy has been a long time in the making. It has arrived as the UK Health Secretary Matt Hancock encourages participation in a UK-wide COVID-19 genome sequencing study. The strategy highlights how the UK genomics community will work together to harness advances in genomic technology to improve healthcare.

The Genome UK strategy has 3 main pillars:

  1. Early and precise diagnosis of disease and providing personalised treatments.
  2. Disease prevention through more extensive and effective screening for genetic variants, allowing early intervention.
  3. Integration of ground-breaking research into clinical outcomes through improved knowledge transfer and data sharing between research bodies and frontline healthcare.

1st Pillar: Diagnosis and Personalised Medicine

The strategy outlines that, over the next 10 years, the NHS will begin routinely using genomic technologies to identify genetic causes of rare diseases, infectious diseases and cancers. Under the new NHS Genomic Medicine Service (GMS), plans are in place to offer whole genome sequencing (WGS) to children and adults with rare genetic conditions or specific cancers. The strategy also outlines goals to sequence 500,000 whole genomes by 2023/24. In turn, this will help provide personalised treatments using pharmacogenetic testing to optimise drug treatments. Individual genetic variants can be used to predict the effectiveness of specific drugs. It can also be used to determine whether administration of a drug will result in adverse reactions. Through pharmacogenetic testing, patients could be provided with optimised drug treatments and tailored care. This would hopefully improve outcomes and result in fewer negative outcomes. The goal for specific diseases are outlined below.


It is estimated that 1 in 2 people in the UK will be diagnosed with cancer within their lifetime. An early diagnosis can often produce significantly better prospects for effective treatment and longer survival. Cancer is primarily an acquired disease of the genome (contributed to by genetic variations and rearrangements). This strategy aims to use genomic technologies to identify and prevent cancer as early as possible. For example, it has been demonstrated that circulating tumour DNA in the bloodstream can detect a relapsing tumour more than 200 days before it would be identified using a CT scan. The ability to swiftly identify relapses and rapidly respond could provide significant benefits to patients. Additionally, there are further goals to increase the participation of cancer patients in clinical drug trials. This would improve sample sizes and reliability of outcomes.

Rare and inherited diseases:

Although individually these diseases are uncommon, there are actually over 7,000 known rare diseases. It is estimated, that rare diseases will impact approximately 6% of the UK population at some point in their lives. Around 80% of these diseases have a strong genetic component. As a result, NHS England aim to be the first healthcare system in the world to offer WGS as part of routine care. It is hoped that this will allow early detection, intervention, and a dramatic reduction in the impact of these diseases. Subsequently, improving quality of life and reducing the burden of these preventable conditions on healthcare systems.

Infectious Disease:

WGS can transform the way we understand transmission of disease in populations and how we identify and manage outbreaks. This technology can also be used to predict how pathogens evolve. For example, viral sequencing of SARS-CoV-2 is being increasingly used across the UK to understand trends in transmission and outbreaks. The strategy aims to use genomics to deepen our understanding of immune responses to COVID-19 and other pathogens. Researchers have also been using genomic technology to support the development of vaccines and therapeutics.

2nd Pillar: Prevention

The second pillar of the genomics healthcare strategy involves using genomics to accurately predict the risk of chronic diseases and mitigate their impact through effective early intervention. The strategy outlines several goals, including the development of national screening programs to identify at-risk populations, to increase non-invasive prenatal testing based on sampling maternal blood, and to investigate how genetic screening could be used in newborns.

Additionally, current genetic screening in adults combines information from large numbers of common genetic variants across the genome into polygenic risk scores (PRS). This technology can be used to screen high-risk individuals and subpopulations. A new initiative, the Accelerating Detection of Disease Challenge, aims to recruit up to 5 million diverse participants and calculate the PRS of at least 3 million of these participants. This initiative hopes to identify individuals with a larger risk of developing disease. It also aims to determine how PRS could be implemented on a larger scale in the health service.

3rd Pillar: Research

Due to the fast-advancing developments in genomics research, it is essential to develop a seamless interface between research and healthcare delivery. The strategy outlines goals to bring together groups from academia, healthcare, charities and industry, to produce an integrated discovery ecosystem. There are also plans to implement a unified informatics strategy and improve informatics infrastructure, to ensure that data can easily be shared between researchers and clinicians.

Additionally, the strategy repeatedly emphasizes the importance of consent and trust whilst undertaking genomic research. There are aims to standardise consent processes across the NHS for genomic testing, to ensure it is as consistent and familiar to patients and clinicians as possible. A key theme throughout the strategy blueprint was to improve engagement and dialogue with the public, patients and healthcare workforce. This is because public understanding and trust are vital for the success of these technologies.

Finally, there are also plans to actively develop a more diverse genomic database, to reflect UK population diversity. The main global genomic databases are impeded by ethnic bias, as most data represents those with European ancestry. Inadequate representation of minority groups in these datasets may lead to information being compared to those with different genetic backgrounds. In addition, the information they receive may not be accurate or personalised. Similarly, the use of pharmacogenomics to provide personalised treatment is only possible if the adverse drug reaction profile is known for the population that will use them. Thus, this strategy acknowledges that improving diversity and equity of access is fundamental to ensure that the insights and opportunities which arise from genomics research can equally benefit patients from different ethnic groups.


Overall, GENOME UK sets out a clear objective for genomic research to be used to directly improve healthcare for all. It also encourages the growth and innovation of the UK genomics industry. It is hoped that these strategies will provide insight that will help develop more effective treatments.

Image credit: Background photo created by kjpargeter –