Guidance

Precision medicine and genomics

Updated 1 December 2021

Introduction to precision medicine and genomics

Globally, there is a growing demand for precision medicine.

The UK offers:

• first class research and expertise
• a world leading translational infrastructure
• an established value chain with unparalleled data

The 100,000 Genomes Project demonstrates how we are leading the world in whole genome sequencing and enabling genomic medicine.

Numerous UK organisations give support, advice or useful information for each development stage of medicines manufacturing.

Discovery and deep research development stage: UK support organisations

Babraham Institute

The Babraham Institute is a leader in epigenetics, recognised for its pioneering investigations of the principles of epigenetic gene regulation in early development and in the fundamental regulation of the genome.

Cancer Research UK

Cancer Research UK:

• provides core oncology research funding
• offers translational funding and expert capabilities
• supports patient engagement

Clinical Practice Research Datalink (CPRD)

CPRD is a governmental, not-for-profit research service. It’s jointly funded by the NHS National Institute for Health Research (NIHR) and the Medicines and Healthcare Products Regulatory Agency (MHRA), part of the Department of Health and Social Care (DHSC). CPRD has been providing anonymised primary care records for public health research for 30 years.

This data enables:

• observational studies
• clinical trial feasibility and protocol optimisation
• post-market surveillance

Genomics England

Genomics England was set up to deliver the 100,000 Genomes Project. The project is focusing on patients with rare diseases, and their families, as well as patients with common cancers.

Institute of Cancer Research (ICR)

The ICR is one of the world’s most influential cancer research institutes, with an outstanding record of achievement dating back more than 100 years. They are researching how to treat the differences between cancers.

Medical Research Council (MRC)

The MRC improves human health through world-class medical research. It funds research across the biomedical spectrum and its research has resulted in life-changing discoveries for over 100 years. Its work ranges from laboratory research, for example on genes and molecules, right through to clinical trials and population studies.

MRC’s science is split into 6 broad areas of research which includes:

• infections and immunity
• molecular and cellular medicine
• neurosciences and mental health
• population and systems medicine
• global health
• translational research

Its research is carried out in universities, hospitals and a network of dedicated establishments across the UK and Africa.

NIHR Experimental Cancer Medicine Centres (ECMC)

The NIHR funds 14 Experimental Cancer Medicine Centres across England in close partnership with Cancer Research UK.

The centres play a leading role in speeding up the process of cancer drug development and the search for cancer biomarkers – molecules present in blood or tissue - that can:

• be used to diagnose cancer
• predict the aggressiveness of the disease
• show whether a drug will be effective in a specific patient and at what dose

UK Biobank

UK Biobank is a unique resource of data and samples linked to medical histories and health records from 500,000 adult participants and is open to bona fide researchers anywhere in the world, including those funded by academia and industry.

UK Biobank is a major national health resource, and a registered charity in its own right.

Wellcome Trust Sanger Institute

The Wellcome Trust Sanger Institute is one of the premier centres of genomic discovery and understanding in the world. It leads ambitious collaborations across the globe to provide the foundations for further research and transformative healthcare innovations.

Development and translation development stage: UK support organisations

Cancer Research UK Commercial Partnerships

This arm of Cancer Research UK develops and commercialises exciting new discoveries in cancer research. They are the meeting point between academia and industry and translates promising research into commercial propositions

Catapults

The catapult centres are a network of world-leading centres designed to transform the UK’s capability for innovation in specific areas and help drive future economic growth.

The catapults include:

• cell and gene therapy
• digital
• high value manufacturing
• medicines discovery
• precision medicine

Innovate UK

Innovate UK is the UK’s innovation agency. It works with people, companies and partner organisations to find and drive science and technology innovations. Innovate UK fund the strongest opportunities and connect innovators with the right partners they need to succeed.

MRC-NIHR National Phenome Centre

The National Phenome Centre aims to deliver broad access to a world-class capability in metabolic phenotyping, that will benefit the UK translational medicine community. It is open to the whole UK research community (academic and industry) and offers a wide range of services from broad profiling untargeted assays to targeted assays. These services are offered on a collaborative project basis or as a fee-for-service offering.

National Institute for Health Research (NIHR)

The NIHR is funded through DHSC. It builds capacity and leadership in the research workforce, and attracts investment into the UK by supporting partnerships with life science companies, including small and medium enterprises, and charities.

NIHR Biomedical Research Centres (NIHR BRC) were formed through partnerships between England’s leading NHS organisations and universities. Twenty NIHR BRCs conduct translational research to transform scientific breakthroughs into life-saving treatments for patients. Staffed by expert investigators and clinicians, the centres are leaders in translating lab-based discoveries into new cutting edge treatments, technologies, diagnostics and other interventions in clinical settings.

NIHR Biomedical Research Units (BRU) are based within England’s leading NHS organisations and universities. They undertake translational research in priority areas of high disease burden and clinical need and focus on specific therapeutic areas of disease including:

• musculoskeletal
• gastrointestinal
• respiratory
• cardiovascular
• dementia
• nutrition
• diet and lifestyle
• deafness and hearing

NIHR Clinical Research Facilities for Experimental Medicine (NIHR CRFs) are dedicated and purpose-built facilities, where specialist clinical research and support staff from universities and NHS Trusts work together on patient-orientated commercial and non-commercial experimental medicine studies.

Life science companies can access assistance for their studies throughout the research process from study design to data collection and management.

NIHR Clinical Research Network (NIHR CRN) is the research delivery arm of the NHS in England. One of their priorities is to proactively support the life-sciences industry to deliver high quality commercial contract clinical research across all therapeutic areas. Their free-of-charge study support service helps life-science organisations effectively find investigators and sites, set-up and deliver their studies to time and target.

NIHR Medtech and In vitro diagnostics Co-operatives (MICs) build expertise and capacity in the NHS to develop new medical technologies and provide evidence on commercially-supplied in vitro diagnostic (IVD) tests. Leading NHS organisations act as centres of expertise, bringing together patients, clinicians, researchers, commissioners and industry.

NIHR Office for Clinical Research Infrastructure (NOCRI) provides potential partners, including the life sciences industry and charities, with a direct and simplified route to a wide range of experimental medicine facilities and expert NIHR investigators.

NOCRI works with organisations to help them navigate this infrastructure and, where required, form partnerships and collaborations to bring new treatments to patients faster.

NIHR Rare Diseases Translational Research Collaboration (NIHR RD-TRCs) increases the volume of in depth pheno-typing and links this to data on genomic abnormalities to provide greater understanding of the mechanisms underlying rare diseases.

NIHR Translational Research Partnerships (NIHR TRPs) bring together the UK’s leading academic and clinical centres for experimental medicine and translational research into a ready-formed partnership of Universities and NHS hospitals.

NICE Office for Market Access (NICE OMA)

NICE OMA provides expert advice to the life sciences industry on pharmaceuticals, health technologies, diagnostics, and devices.

They advise on:

• NICE processes
• how to work with NICE to achieve your aims
• how NICE links with different parts of the system
• the Early Access to Medicines Scheme (EAMS) and how NICE supports it

NICE Scientific Advice (NICE SA)

NICE SA offers a fee-based consultancy service to developers of:

• medicines (including orphan drugs)
• devices
• diagnostics
• a range of services for different product types

Stratified Medicine Scotland

Stratified Medicine Scotland is a world-class centre for providing commercial delivery of stratified medicine capabilities. They partner with pharmaceutical and biotech companies aiming to better understand response to therapy or disease progression questions to support their own R&D programmes.

Regulatory and health technology assessment development stage: UK support organisations

Medicines and Healthcare products Regulatory Agency (MHRA)

MHRA is the regulatory agency responsible for regulating all medicines and medical devices in the UK by ensuring they work and are acceptably safe. Robust and fact-based judgements underpin all the work carried out to ensure that the benefits justify any risks.

MHRA Innovation Office is a single point of access to expert regulatory information, advice and guidance that helps organisations of all backgrounds and sizes develop innovative medicines, medical devices or novel manufacturing processes. They provide expert knowledge, guidance and experience to help develop products and save time and money.

National Institute for Health and Care Excellence (NICE)

NICE publishes guidance in four areas including the use of health technologies within the NHS such as the use of the new and existing medicines, treatments and procedures.

NICE SA offers a fee-based consultancy service.

Scottish Medicines Consortium (SMC)

The SMC accepts for use those newly licensed medicines that clearly represent good value for money to NHS Scotland. It analyses information supplied by the medicine manufacturer on the health benefits of the medicine and justification of its price.

The consortium is made up of lead clinicians, pharmacists and health economists together with representatives of health boards, the pharmaceutical industry and the public.

Delivery, supply and NHS / patient development stage: UK support organisations

Academic Health Science Networks (AHSNs)

The AHSNs facilitates access into the NHS and aligns education, clinical research, informatics, innovation, training and healthcare delivery providing a network aimed at supporting the adoption and dissemination of innovative technologies.

There are 15 AHSNs across England, and each AHSN works across a distinct geography serving a different population in each region.

Clinical Commissioning Groups (CCG)

CCGs are clinically-led statutory NHS bodies responsible for the planning and commissioning of health care services for their local area. CCGs commission most of the hospital and community NHS services in the local areas for which they are responsible.

Clinical Practice Research Datalink (CPRD)

CPRD provides anonymised primary care records for public health research.

National Health Service (NHS)

The NHS, launched in 1948, is the largest unified healthcare system in the world. It was born out of a long-held ideal that good healthcare should be available to all, regardless of wealth, and remains free at the point of use for anyone who is a UK resident. That is currently more than 64.1 million people in the UK.

NHS England sets the priorities and direction for the NHS in England. It shares out more than £100 billion in funds on commissioning of health care services and holds organisations to account for spending this money effectively.

NHS Scotland is the publicly funded healthcare system in Scotland. Health and social care policy and funding are the responsibility of the Health and Social Care Directorates of the Scottish Government. NHS Scotland currently employs about 140,000 staff who work across 14 territorial NHS Boards, 7 special NHS Boards and 1 public health body.

NHS Northern Ireland provides the gateway to health and social care services in Northern Ireland. It links to the hospital and community services provided by the 6 Health Trusts, General Practices, Health and Social Care Board and other health and social care agencies. The Northern Ireland Executive, through the Health Department is responsible for the funding of the service.

NHS Wales is the official corporate name of the Welsh National Health Service, the publicly funded healthcare system which is the responsibility of the devolved Welsh Government. There are 7 Local Health Boards (LHBs) in Wales and 3 national NHS Trusts. Each is responsible for delivering all NHS healthcare services within a geographical area. Three NHS Trusts, called ‘all-Wales trusts’, operate nationwide agencies and services.

NHS procurement

There are several routes to market for companies interested in supplying goods and services to the NHS.

Read more on Partnering with the NHS to sell goods and services.

NICE OMA

NICE OMA provides expert advice to the life sciences industry.

National Institute for Health Research (NIHR)

The NIHR is funded through the Department of Health. The NIHR supports research from bench to bedside for the benefit of patients and the economy and attracts investment into the UK by supporting partnerships with life science companies, including small and medium enterprises, and charities, and builds capacity and leadership in the research workforce.

NIHR BioResource - National Institute for Health Research (NIHR) BioResource is a panel of thousands of volunteers, both with and without health problems, who are willing to be approached to participate in research studies investigating the links between genes, the environment, health and disease.

NIHR Clinical Record Interactive Search (CRIS) - the Clinical Record Interactive Search (CRIS) system has been developed for use by the NIHR Mental Health Biomedical Research Centre and Dementia Unit (BRC and BRU) at the South London and Maudsley (SLaM) NHS Foundation Trust. It enables researchers to safely and securely review real life situation using information from the Trust’s clinical records.

NIHR Clinical Research Network : Study Support Service - the National Institute for Health Research (NIHR) Clinical Research Network is the research delivery arm of the National Health Service (NHS) in England. One of their priorities is to proactively support the life-sciences industry to deliver high quality commercial contract clinical research across all therapeutic areas within the NHS. Their free-of-charge study support service helps life-science organisations effectively find investigators and sites, set-up and deliver studies to time and target.

NIHR Collaborations for Leadership in Applied Health Research and Care (CLAHRCs) bring together a collaboration of the local providers of NHS services and NHS commissioners, universities, other relevant local organisations and the relevant Academic Health Science Network.

CLAHRCs conduct applied health research across the NHS, and translate research findings into improved outcomes for patients. The 13 NIHR CLAHRCs primarily focus on research targeted at chronic disease and public health interventions.

NIHR Dementia Translational Research Collaboration (TRC) pulls discoveries from basic science into real benefits for patients. It comprises 4 NIHR Dementia Biomedical Research Units as well as 6 NIHR Biomedical Research Centres with dementia-related research themes. These Units and Centres are world leaders in dementia translational research, based within top NHS-university partnerships.

NIHR Experimental Cancer Medicine Centres (ECMCs) with Cancer Research UK fund 14 experimental cancer medicine centres across England.

The centres play a leading role in speeding up the process of cancer drug development and the search for cancer biomarkers – molecules present in blood or tissue - that can:

• be used to diagnose cancer
• predict the aggressiveness of the disease
• show whether a drug will be effective in a specific patient and at what dose

NIHR Health Informatics Collaborative (NIHR HIC brings together 5 of the country’s leading NHS Trusts with large NIHR Biomedical Research Centres to make NHS clinical data more readily available to researchers, industry and the NHS community.

It focuses on 5 scientific themes which are:

• acute coronary syndromes
• ovarian cancer
• hepatitis
• renal transplantation
• intensive care

NIHR National Biosample Centre provides high throughput and high quality biosample processing, storage and retrieval services to support NIHR-supported research, and research funded by DHSC partners, such as the MRC, charities and industry.

Procurement to the NHS

The NHS spends over £25 billion every year on goods and services. There are several routes to market for companies interested in supplying to the NHS. Read more on NHS procurement.

Scottish Medicines Consortium (SMC)

The SMC accepts for use those newly licensed medicines that clearly represent good value for money to NHS Scotland. SMC analyses information supplied by the medicine manufacturer on the health benefits of the medicine and justification of its price. The consortium is made up of lead clinicians, pharmacists and health economists together with representatives of health boards, the pharmaceutical industry and the public.

UK Biobank

UK Biobank is a unique resource of data and samples linked to medical histories and health records from 500,000 adult participants.

Launch global access development stage: UK support organisations

Department for International Trade (DIT)

DIT is the government department that helps UK-based companies succeed globally and assists overseas companies to bring investment to the UK. DIT’s network of government and private-sector specialists, in the UK and in British Embassies and Consulates throughout the world, offers practical advice and free and confidential support.

Life Sciences Organisation (LSO)

The LSO helps UK life science companies do business overseas and encourages foreign life science companies to invest in the UK. It provides support from the earliest stages of research and development through to clinical trials, commercial operations and business partnerships.

Healthcare UK

Healthcare UK is a joint initiative of DHSC, DIT and NHS England.

Healthcare UK helps UK healthcare providers do more business overseas by:

• promoting the UK healthcare sector to overseas markets
• supporting healthcare partnerships between the UK and overseas healthcare providers

NICE OMA

NICE OMA provides expert advice to the life sciences industry.

UK life science membership associations and networking organisations

Find UK life science membership associations and networking organisations who can aid business growth, competitiveness and innovation in the life sciences sector.