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We are proud to support a number of research initiatives, contributing to cutting-edge research studies and exciting advances in innovation. We work with NHS partners, the National Institute of Health and Care Research (NIHR), charitable organisations, and the education sector, and collaborate with multiple networks to make this possible, accelerating the translation of genomic research into routine health and care.

Our portfolio includes ground-breaking health research into different types of cancer, such as the Cancer Vaccine Launchpad and state-of-the-art clinical trials that have the potential to transform treatment and care for thousands of people.

The following projects are an example of our impact.

The Generation study

The Generation Study is a ground-breaking research study which will sequence the genomes of 100,000 newborn babies. The study is being run by Genomics England in partnership with the NHS to help to understand whether we can improve how we diagnose and treat rare genetic conditions.

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The Molecular Genetics of Adverse Drug Reactions (MOLGEN)

The Molecular Genetics of Adverse Drug Reactions (MOLGEN) study is a UK Clinical trial led by the University of Liverpool, recruiting patients at several sites within the SW GMS.

It is generating evidence for the association of genetic variants with adverse drug reactions.  Current arms open are generating further data:

  • Rare DPYD variants and fluoropyrimidine chemotherapy toxicity
  • Genetic variants and cardiotoxicity associated with anthracycline chemotherapy
  • Genetic variants and myocarditis associated with immune checkpoint inhibitors use in cancer treatment.

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PROGRESS

Pharmacogenetics Roll Out – Gauging Response to Service (PROGRESS) programme looks to establish the feasibility of providing an NHS-wide diagnostic service to identify genetic changes associated with commonly prescribed drugs.

Medicines are the most common therapeutic intervention in healthcare, yet the efficacy and safety of many drugs show considerable interpersonal variation.  Some patients have been prescribed medication that does not work well, whereas others develop reactions to their medicines.  Sub-optimal medicines use is a globally important problem that costs lives and large sums of money.  This project will

  1. develop and validate an initial genetic test for NHS use
  2. develop a system to translate the laboratory findings into prescribing advice for use in primary care (GPs)
  3. work with a small number of GPs across England to test the system
  4. investigate the healthcare economics and implementation strategy to ensure the test is affordable for the NHSE and the way it can be adopted
  5. work with patient groups across England to understand how patients feel about this type of testing

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ctDNA (circulating tumour DNA)

The Bristol Genetics Laboratory (BGL) has a breadth of experiencing in delivering Next Generation Sequencing and we have now branched out to using this technology for liquid biopsy specimens.

The ctDNA NGS panel is known as MSK-ACCESS and is available for research purposes at BGL. The assay was developed by the Memorial Sloan Kettering laboratory and its proven capabilities are well documented in the scientific literature.

MSK-ACCESS targets exons of 146 genes for comprehensive analysis and SNV’s, Indels, CNV’s, gene fusions and MSI can all be detected. The panel is a tumour agnostic design and can be used for research in any tumour type. The assay incorporates paired germline sequencing to allow filtering of germline and clonal hematopoietic variation, to allow focus on somatic variation.

Current research projects include a Bladder Cancer study.

Please contact the laboratory if we may be able to help with testing for your research project.

SWGLHenquiries@nbt.nhs.uk

DETERMINE

DETERMINE is the first UK national precision medicine trial in rare cancers

Led by the University of Manchester and sponsored and managed by Cancer Research UK’s Centre for Drug Development, DETERMINE is a multi-drug, precision medicine trial for adults, teenagers and children with rare cancers.

It’s run in collaboration with the University of Birmingham, the Royal Marsden NHS Foundation Trust and the Christie NHS Foundation Trust. DETERMINE is a trial open in the UK and is expected to recruit until 2027. This trial is exploring whether treatments approved for use in some cancer types can target identifiable genetic alterations in other types. It also provides new treatment options for those who might not have any left.

Drugs which show promising results will be accelerated for Cancer Drug Fund assessment and NHS approval.

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WAYFIND-R

WAYFIND-R is a global registry that collects clinical data, tumour characteristics and outcomes from patients with solid tumours profiled with a next-generation sequencing (NGS) test. It has been created by Roche in collaboration with external experts in the field of precision oncology.

WAYFIND-R aims to enable collaborations and provide meaningful insights and high-quality evidence to enhance our understanding of precision oncology and ultimately transform the lives of people with cancer.

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The Cancer Vaccine Launchpad

The NHS Cancer Vaccine Launch Pad (CVLP) is a platform that will speed up access to messenger ribonucleic acid (mRNA) personalised cancer vaccine clinical trials for people who have been diagnosed with cancer. It will also accelerate the development of cancer vaccines as a form of cancer treatment.

Through the CVLP, people with cancer who are receiving treatment in the NHS in England can be assessed to see if they might be eligible to join a cancer vaccine clinical trial, and then referred to a hospital that is running a trial.

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