Accelerating Detection of Disease

The Accelerating Detection of Disease challenge is recruiting a world-leading cohort of up to 5 million participants by 2024 to support research intended to improve the early detection, risk stratification, and early intervention of chronic diseases in individuals, before symptoms present. The cohort aims to collect biological (blood) samples and health related data on all 5 million participants, with plans to collect repeat samples from a subset. By using AI and data, research in early diagnosis can be accelerated, leading to better prevention and treatment of disease.  The pioneering programme is unparalleled, in the UK and globally, in its attempt to tackle the challenge of early diagnosis of major chronic illness in an entire population.  The initiative will develop a major enduring national resource that will support new AI approaches to early diagnosis and biomarker discovery while enabling the development, testing and validation of new diagnostic tools at scale. Funding: £79 million from the Industrial Strategy Challenge Fund with expected matched funding of £160 million from industry.

UK Biobank

The UK Biobank, (registered charity) is a tool for health research that is available to all bona fide researchers from academia and industry for all types of health-related research that is in the public interest without any preferential or exclusive access.  The Biobank is following the health of 500,000 volunteer participants who joined the study between 2006-2010. They have undergone tests; provided blood, urine and saliva samples, and detailed information about themselves; and agreed to have their health followed. More than 10,000 researchers from 68 countries have registered to use UK Biobank, and 1,000 projects are underway to understand why some people develop particular diseases and others do not, with the aim of improving the prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses including cancer, heart diseases, stroke, diabetes, arthritis, osteoporosis, eye disorders, depression and forms of dementia. Around three-quarters of registrations are now from overseas.  The Biobank has set out to make the system as easy as possible for researchers to access data, while protecting the anonymity of its participants.  Funding: primarily MRC and Wellcome Trust.   VIDEO: The Groundbreaking UK Biobank Resource  

Genomics England – The 100,000 Genomes Project

Genomics England, a company wholly-owned by the Department of Health, was set up in 2013 to deliver the 100,000 Genomes Project, which sequenced 100,000 genomes from around 70,000 NHS patients and their families focusing on rare diseases and common cancers. The aim was to transform patient care with more precise diagnosis and treatments and to study how to best use and interpret genomics in healthcare and kick-start a UK genomics industry. The project was successfully completed in December 2018. This is currently the largest national sequencing project of its kind in the world.  In 2018, government announced the expansion of the 100,000 Genomes Project to see one million whole genomes sequenced by the NHS and UK Biobank in five years and an ambitious vision for genomic medicine in the NHS with plans to sequence five million genomes over the next five years.  The funders:  National Institute for Health Research, NHS England, Wellcome Trust, Cancer Research UK, Medical Research Council.   VIDEO

National Genomics Healthcare Strategy

The UK’s National Genomics Healthcare Strategy, first announced in early 2019, set out a plan enabling the UK to offer a predictive, preventative and personalised health and care service for people with rare diseases.  A 2020 update to the strategy is imminent, mapping out the UK genomics offer, and setting a unified direction that builds on the significant investment made in genomics to date, and the UK’s reputation as a world leader in genomic healthcare. The strategy will on three areas:

  • Diagnosis and personalised medicine – further bring genomic advances into routine healthcare, so that patients are diagnosed earlier and more accurately, improving outcomes.
  • Genomics potential in prevention – use advances in genomics to improve predictive and preventative healthcare, screening programmes and public health.
  • Mapping out the research landscape – support research to ensure seamless interface between research and healthcare delivery, maximising opportunities for patient benefits from genomic discoveries

The strategy will be underpinned by cross cutting themes on engagement and maintaining trust, growing and training the workforce in the UK, driving forward the UK’s genomics industry and supporting large-scale data and bioinformatics analysis.

NHS Genomic Medicine Service

In March 2017, the NHS England Board set out its strategic approach to build a National Genomic Medicine Service, building on the NHS contribution to the 100,000 Genomes Project. NHS England is striving to ensure that there is equitable access to genetic and genomic testing across the country. The aim is to integrate genomic medicine into routine NHS care by 2025. The National Genomic Medicine Service is comprised five key elements:

  • A national genomic laboratory service through a network of seven Genomic Laboratory Hubs (West Midlands, Oxford and Wessex GLH; East Midlands and Eastern England GLH led by Cambridge University Hospitals NHS Foundation Trust; North West GLH led by Manchester University NHS Foundation Trust; London North GLH led by Great Ormond Street Hospital for Children NHS Foundation Trust; London South GLH led by Guy’s and St. Thomas’ NHS Foundation Trust; South West GLH led by North Bristol NHS Trust; and Yorkshire and North East GLH led by the Newcastle upon Tyne Hospotals NHS Foundation Trust)
  • A new National Genomic Test Directory to underpin the genomic laboratory network
  • A national Whole Genomic Sequencing provision and supporting informatics infrastructure developed in partnership with Genomics England
  • A clinical genomics medicine service and an evolved Genomic Medicine Centre service
  • A national coordinating and oversight function within NHS England (Genomics Unit)

NIHR BioResource

The NIHR BioResource is comprised of volunteers from around the country who have given a biological sample and consent to access their medical notes or health related records, while expressing a willingness to be approached to participate in research studies and trials on the basis of their genotype and/or phenotype.  There are 13 NIHR BioResource local centres at NIHR Biomedical Research Centres throughout England located in Birmingham, Cambridge, Exeter, Leeds, Leicester, London (includes Barts, Guy’s and St Thomas’, Maudsley, Moorfields and UCLH), Manchester, Newcastle and Southampton. Each centre will recruit people with and without health conditions.  Currently they have recruited over 100,000 volunteers.

Wellcome Sanger Institute

The Wellcome Sanger Institute (non-profit) is a Cambridge UK-based centre of genomic discovery and understanding that is leading ambitious collaborations across the globe to provide the foundations for further research and transformative healthcare innovations. The major theme of the Institute’s science is genome variation—naturally occurring and engineered; it made a seminal contribution to the Human Genome Project’s first mapping of the human genome. Important to the Institute is sharing its discoveries and techniques with the next generation of genomics scientists and researchers worldwide.  Funding: primarily Wellcome Trust.    VIDEO