People power – unleashing the genomics potential

One of the greatest aspects of the National Health Service (NHS) has been its ability to combine the day-to-day care of patients with the emerging evidence from translational and clinical research. This allows patients to benefit from the best of what is available now while continually developing future approaches to evidence based treatment and interventions that keeps the service at the cutting edge of science.

Turning research evidence into everyday clinical practice is the oil that keeps the engine of the NHS running, delivering ongoing improvements in care. This was why the 2012 Health and Social Care Act placed a duty to promote research and innovation on all levels of the NHS, including NHS England.

This ongoing evolution of embedding knowledge within clinical practice is exemplified by how developments, following the discovery of the structure of DNA, have informed changes in NHS services. The importance of DNA was identified in the mid-1940s, just before the birth of the NHS, followed by the identification of the double helix structure in the UK in 1953. Developments in genomics continued through the decades, from the chromosomal cause of Down’s syndrome; the mapping of genetic diseases, such as Huntington’s disease; through to the discovery of cancer susceptibility genes in the 1990s. These advances, driven by the contribution of patients, have informed research discovery and are driving improved clinical care.

The 100,000 Genomes Project is at the forefront of transforming care; working in partnership with participants, industry and researchers from around the world. NHS England recognises that genomics is essential to advancing healthcare research. So, what is it and why is it important?

  • Genomics is driven by the forensic capture of genomic sequences in combination with a careful and deep description of people’s condition or phenotype.  It is a complex field given the number of normal variations in our individual genomic code.  The support of patients is critical; in finding an answer for each new participant, we build up the knowledge base that helps inform and decipher cases in the future.
  • The evidence from the 100,000 Genomes Project is enabling the NHS to adopt whole genome sequencing into routine care within 3 years, following the proof of concept being established within the 13 NHS Genomic Medicine Centres. This rich resource will be invaluable to more than 2,700 researchers worldwide; informing their discovery efforts across 42 themes including: a range of common cancers and rare diseases, cardiovascular and respiratory conditions, neurology and immunology. Genomics England oversees careful and controlled access to deidentified data from within this knowledge base; providing real-world evidence that opens up the possibility of identifying the cause(s) of disease, new targets for drugs and new therapeutic approaches.
  • With this robust data, the Genomics England Clinical Interpretation Partnership (GeCIP), working in conjunction NHS England, will significantly speed up the implementation of research discoveries into clinical practice in the NHS. Historically, it has taken around 17 years to translate the latest scientific innovation into mainstream practice. The GeCIP approach aims to reduce this to as little as 3 years or as quickly as the evidence becomes available. This means people will benefit from the latest science faster; and it will be spread through the new NHS Genomic Medicine Service
  • The limitations of current medicines are well known, differences in effectiveness can be found for the same drug given to different people. Sometimes people’s side effects can be so severe that they require a hospital stay. Research teams are already starting to understand the genetics behind how the body processes of many common medicines, and are analysing the national genomic knowledge base to work out how to make drugs safer and more effective; and how the evidence can be built into plans for routine care, benefiting future patients.

The benefits realised in this field so far are intrinsically linked to having a health service that is free at the point of need and significantly, because of the altruism of the patients that pass through the NHS’s doors. We have seen this altruism in very practical ways, such as the donation of blood or cancer tissue to enable DNA to be extracted, or by allowing researchers to have access to diagnosis and treatment data.

The NHS is built on the sum of these individual contributions – this allows us to continue offering the highest quality care for all, now and for future generations. It is important that we recognise and thank each and every person who contributes to research; providing their samples and clinical data in this way.

Sue Hill

Professor Dame Sue Hill DBE FMedSci FRSB FRCP(Hon) FRCPath (Hon) FHCS (Hon) is the Chief Scientific Officer (CSO) for England and a respiratory scientist by background.

Throughout her career she has led on large-scale priority programmes across government and in NHS England including as the senior responsible officer for Genomics in the NHS, introducing a world-leading and nationwide Genomic Medicine Service, building on her work in heading up the NHS contribution to the 100,000 Genomes Project.

She has also played a pivotal role in the national COVID-19 programme leading the development and deployment of testing technologies into use for the UK population and co-directing the whole-genome sequencing of SARS-CoV-2 programme.

Professor Mark Caulfield is the Chief Scientist at Genomics England. After graduating in Medicine in 1984, he trained in Clinical Pharmacology at St Bartholomew’s Hospital (Barts) where he developed a research programme in molecular genetics of hypertension and clinical research.

In 2000 Mark successfully bid for £3.1m to create the Barts and The London Genome Centre at the Queen Mary University of London and subsequently became Director of the William Harvey Research Institute.

Since 2008 he has directed the Barts National Institute of Health Research (NIHR) Cardiovascular Biomedical Research Unit/Centre. He is a Fellow of The Royal College of Physicians, has been elected to the Academy of Medical Sciences and became a Senior Investigator for the NIHR in 2013.

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