Type of information: Collaboration agreement
Compound: 100,000 Genomes Project
Company: University of Cambridge (UK) Genomics England Ltd (UK) Illumina (USA)
Therapeutic area: Genetic diseases - Rare diseases - Cancer - Oncology
Type agreement: collaboration
Disease: rare genetic diseases, cancers
- • On October 21, 2013, the University of Cambridge, Genomics England Ltd., and Illumina, have announced the start of a three-year project that will sequence 10,000 whole genomes of children and adults with rare genetic diseases. The project represents a pilot for Genomics England Ltd. , which will provide 2,000 samples, and marks the beginning of the national endeavor to sequence 100,000 genomes in the UK National Health Service (NHS), announced recently by the Prime Minister, David Cameron . To improve patient care in the UK National Health Service (NHS), the University of Cambridge will work with the team led by Dr. David Bentley , Vice President and Chief Scientist for Illumina , to develop the workflow and processes to bring routine clinical whole genome sequencing to the bedside.Illumina will deliver whole genome sequence data for the project using market-leading technology invented in Cambridge.
- • On June 26, 2017, Illumina and Genomics England announced that Illumina is the primary variant interpretation and reporting software vendor for tumor and matched normal samples characterized as part of the 100,000 Genomes Project. In a little over a year since Illumina announced the Bioinformatics and Clinical Interpretation Partnership with Genomics England, the partnership has now set unified standards for data and analysis practices using BaseSpace Variant Interpreter software for tumor variant review.
In the coming months, Genomics England will be expanding the use of BaseSpace Variant Interpreter for cancer to all NHS Genomic Medicine Centers, and Illumina will be removing the 'Beta' status from its software offering, and formally launching it for public release later this summer.
BaseSpace Variant Interpreter (Beta) enables researchers to perform rapid annotation, filtering, and interpretation of genomic data. Its user-friendly, efficient variant-to-report workflow helps summarize findings into structured reports within a software framework focused on data security, compliance, and operational efficiency.
- • On February 11, 2016, Illumina and Genomics England announced a partnership to develop a platform and knowledge base that can be used to improve and automate genome interpretation. This non-exclusive partnership with Illumina will run in parallel with the other clinical interpretation and bioinformatics providers involved in the 100,000 Genomes Project .
Illumina and Genomics England will collaborate to develop a set of informatics tools, which will support the delivery of genomic clinical and research services at a population scale to the NHS Genomic Medicine Centers and the Genomics England Clinical Interpretation Partners . All of the tools will include open application programming interfaces so that other bioinformatics solution partners can continue to provide services within the Project.
Under the terms of the partnership, Illumina will develop interpretation and reporting tools for the purpose of delivering reports on all genomes that are sequenced through the 100,000 Genomes Project . Genomics England will provide access to whole genome sequence and de-identified phenotypic data for the development of this suite of tools for personalised medicine. The tools will be used to curate and manage the knowledge base of information generated over the course of the project with a focus on rare disease and common cancers. Illumina and Genomics England have agreed to make available the clinical findings arising from the 100,000 Genomes Project to approved users of the tools developed through the collaboration.
- The partnership also includes the ability for Genomics England to work with Illumina's other tools, NextBio® and BaseSpace®, for data access and genomic data management. Illumina will make available to Genomics England researchers and the GENE Consortium part of the 100,000 Genomes dataset as a pilot within NextBio® Clinical, which will enable cohort analysis of complex phenotypic and genotypic information from de-identified genomes.
- • On August 1, 2014, the Prime Minister David Cameron announced the 100,000 Genomes Project. This four year project will allow scientists to do pioneering new research to decode 100,000 human genomes. The landmark project is on a scale not seen anywhere else in the world and is part of the Prime Minister\'s commitment to ensure the NHS as well as the UK\'s research and life science sector is at the forefront of global advances in modern medicine. The Prime Minister has pledged that the UK will map 100,000 human genomes by 2017. A new structure wholly owned by the Department of Health, Genomics England has been set up to deliver the 100,000 Genomes Project. Genomics England has four main aims: to bring benefit to patients, to create an ethical and transparent programme based on consent, to enable new scientific discovery and medical insights and to kickstart the development of a UK genomics industry. The project is focusing on patients with rare diseases, and their families, as well as patients with common cancers. The project is currently in its pilot phase and the main project begins in 2015. It will sequence 100,000 whole genomes from NHS patients by 2017.
- A new partnership between Genomics England and Illumina will deliver infrastructure and expertise to turn the plan into reality. As part of this, Illumina\'s services for whole genome sequencing have been secured in a deal worth around £78million. In turn, Illumina will invest around £162million into the work in England over four years, creating new knowledge and jobs in the field of genome sequencing. The Wellcome Trust has invested more than £1 billion in genomic research and has agreed to spend £27 million on a world class sequencing hub at its Genome Campus near Cambridge. This will house Genomics England\'s operations alongside those of the internationally respected Sanger Institute. The agreement will place Genomics England at the heart of one of the world\'s most vibrant genomic science and technology clusters, and allow scientists to work with world-class researchers from the Sanger Institute, the European Bioinformatics Institute, and biotechnology companies based on the same site.
- The Medical Research Council has also earmarked £24 million to help provide the computing power to make sure that the data of participants will be properly analysed, interpreted and made available to doctors and researchers securely. NHS England has started the process of selecting the first NHS Genomics Medicine Centres. Successful centres will help to progress this ambitious project by inviting cancer and rare disease patients to take part to have their genome sequenced. NHS England has agreed to underwrite an NHS contribution of up to £20 million over the life of the project.
The cash injection - and new partnerships - will mean excellent progress can be made on the 100,000 Genomes Project. It is expected that around 40,000 NHS patients could benefit directly from the research. Ultimately this work will pave the way for genomics-based medicine to become part of everyday practice throughout the NHS. Participation in the project will be based on consent, and people\'s data will be strictly protected through Genomics England\'s secure data services.