100,000 Genomes Project

UK Government medical research project 100K Pathogen Genome Project 1000 Genomes Project May 2023 100,000 Genomes Project Government December 2018 July 2013 https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/ nowrap National Institute for Health and Care Research NHS England Genomics England 10.1136/bmj.k1687 Scottish Genomes Partnership Northern Ireland Genomic Medicine Centre NHS Wales The Wellcome Trust Cancer Research UK Medical Research Council The 100,000 Genomes Project is a now-completed UK Government project managed by Genomics England that is sequencing whole genomes from National Health Service patients. The project is focusing on rare diseases, some common types of cancer, and infectious diseases.Randeep Ramesh Jeremy Hunt launches genomics body to oversee healthcare revolution https://www.theguardian.com/politics/2013/jul/05/health-jeremy-hunt The Guardian 5 July 2013 12 September 2014Department of Health and Social Care DNA mapping to better understand cancer, rare diseases and infectious diseases https://www.gov.uk/government/news/dna-mapping-to-better-understand-cancer-rare-diseases-and-infectious-diseases UK Government 5 July 2013 26 May 2016 20 March 2016 https://web.archive.org/web/20160320010743/https://www.gov.uk/government/news/dna-mapping-to-better-understand-cancer-rare-diseases-and-infectious-diseases live Participants give consent for their genome data to be linked to information about their medical condition and health records. The medical and genomic data is shared with researchers to improve knowledge of the causes, treatment, and care of diseases.http://www.genomicsengland.co.uk/the-100000-genomes-project/data/ Data access, security and privacy 10 March 2015 Genomics England 6 June 2016 5 June 2016 https://web.archive.org/web/20160605113858/http://www.genomicsengland.co.uk/the-100000-genomes-project/data/ live The project has received over £300 million from public and private investment.McKee Selina 2014-08-01 £300m for UK 100,000 genomes project - PharmaTimes https://pharmatimes.com/news/300m_for_uk_100000_genomes_project_1002275/ 2024-01-12 pharmatimes.com en-US 12 January 2024 https://web.archive.org/web/20240112031445/https://pharmatimes.com/news/300m_for_uk_100000_genomes_project_1002275/ live History The project was first announced by UK Prime Minister David Cameron in December 2012.DNA tests to revolutionise fight against cancer and help 100,000 NHS patients. https://www.gov.uk/government/news/dna-tests-to-revolutionise-fight-against-cancer-and-help-100000-nhs-patients UK Government 10 December 2012 26 May 2016 3 June 2016 https://web.archive.org/web/20160603214233/https://www.gov.uk/government/news/dna-tests-to-revolutionise-fight-against-cancer-and-help-100000-nhs-patients live The Government set up a new company Genomics England to oversee the project with the plan to focus on rare diseases, cancer, and infectious diseases announced by Health Secretary Jeremy Hunt in July 2013. The project was also made possible by the National Institute for Health and Care Research (NIHR), NHS England, Public Health England, and Health Education England. In 2015, Northern IrelandNorthern Ireland joins the 100,000 Genomes Project https://www.genomicsengland.co.uk/northern-ireland-joins-the-100000-genomes-project/ Genomics England 8 September 2016 29 October 2015 19 August 2016 https://web.archive.org/web/20160819213807/https://www.genomicsengland.co.uk/northern-ireland-joins-the-100000-genomes-project/ live and ScotlandScottish investment in genomic medicine https://www.genomicsengland.co.uk/scottish-investment-in-genomic-medicine/ Genomics England 8 September 2016 1 March 2016 14 September 2016 https://web.archive.org/web/20160914201256/https://www.genomicsengland.co.uk/scottish-investment-in-genomic-medicine/ live also joined the project with plans to start work the following year. In 2016, the Welsh government issued a statement of intentWritten Statement -Statement of Intent for Genomics and Precision Medicine http://gov.wales/about/cabinet/cabinetstatements/previous-administration/2016/genomics/?lang=en The Welsh Government 8 September 2016 13 September 2016 https://web.archive.org/web/20160913234145/http://gov.wales/about/cabinet/cabinetstatements/previous-administration/2016/genomics/?lang=en live and is considering participating in the 100,000 Genomes Project. The initial participants were recruited from Cambridge University Hospitals, University College London Partners, and Newcastle upon Tyne NHS Foundation Trust. The following medical centres joined the project a short time later: Central Manchester University Hospitals NHS Foundation Trust, Great Ormond Street Hospital, Guy's and St Thomas' NHS Foundation Trust, Moorfields Eye Hospital NHS Foundation Trust and Oxford University Hospitals NHS Trust.The 100,000 Genomes Project Pilot Investigators 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report New England Journal of Medicine 385 20 2021-11-11 0028-4793 34758253 7613219 10.1056/NEJMoa2035790 1868–1880 In total, the coordination of recruitment for the 100,000 Genome Project was overseen by 13 Genomic Medicine Centers that have been established across 85 NHS Trusts in England, Northern Ireland, and Scotland.Wheway Gabrielle Genomics England Research Consortium Mitchison Hannah M. Ambrose J. C. Baple E. L. Bleda M. Boardman-Pretty F. Boissiere J. M. Boustred C. R. Caulfield M. J. Chan G. C. Craig C. E. H. Daugherty L. C. de Burca A. Devereau A. 2019 Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project Frontiers in Genetics 10 127 10.3389/fgene.2019.00127 free 30915099 1664-8021 6421331 In September 2015, Genomics England announced it had contracted with interpretation partners Congenica and Omicia. This is in addition to ongoing work with sequencing partner Illumina.https://www.genomicsengland.co.uk/genomics-england-announces-interpretation-partners-and-expands-industry-engagement/ Genomics England announces interpretation partners and expands industry engagement Genomics England Genomics England 30 September 2015 16 September 2016 9 October 2016 https://web.archive.org/web/20161009151541/https://www.genomicsengland.co.uk/genomics-england-announces-interpretation-partners-and-expands-industry-engagement/ live As of 1 October 2018, the 100,000 Genomes Project had completed the sequencing of 87,231 whole genomes in Englandhttps://www.genomicsengland.co.uk/the-100000-genomes-project-by-numbers/ The 100,000 Genomes Project by numbers Genomics England 2 October 2018 9 December 2018 https://web.archive.org/web/20181209014225/https://www.genomicsengland.co.uk/the-100000-genomes-project-by-numbers/ live and results are in the process of being returned to NHS Genomic Medicine Centres and ultimately back to participants; the first diagnoses from the Project were returned to patients in spring 2015 and over 2,000 families' results have been returned to the NHS in the rare disease programme to date (July 2017).First children diagnosed in DNA project https://web.archive.org/web/20180706120608/https://www.bbc.com/news/health-35282764 6 July 2018 by James Gallagher published by BBC News on 12 January 2016 In December 2018, the full 100,000 genomes milestone was reached.Fergus Walsh: Faster diagnosis from 'transformational' gene project https://web.archive.org/web/20181205184247/https://www.bbc.co.uk/news/health-46456984 5 December 2018 5 December 2018, bbc.co.uk/news, accessed 5 December 2018 In July 2019, Genomics England announced Data Release 7, which included the 100,000th whole genome made available to researchers.https://www.genomicsengland.co.uk/100000-genomes-for-approved-researchers/ Over 100,000 whole genome sequences now available for approved researchers | Genomics England Genomics England 31 July 2019 16 June 2021 24 June 2021 https://web.archive.org/web/20210624195833/https://www.genomicsengland.co.uk/100000-genomes-for-approved-researchers/ live A 2019 review identified the initiative as an 'exemplar' in involving the public in genomic research.Lacaze Paul Fransquet Peter Tiller Jane Nunn Jack S. 2019 Public Involvement in Global Genomics Research: A Scoping Review Frontiers in Public Health English 7 79 10.3389/fpubh.2019.00079 31024880 6467093 2019FrPH....7...79N 2296-2565 free In June 2020, Lifebit, a UK-based biotechnology company, was announced as the provider of the trusted research environment that will link the genomic data gathered as part of the 100,000 Genome Project with academic research institutions.29 June 2020 Genomics England launches next-generation research platform central to UK COVID-19 response https://www.genomicsengland.co.uk/news/research-environment-covid-19-lifebit-aws 3 February 2023 15 May 2023 https://web.archive.org/web/20230515092643/https://www.genomicsengland.co.uk/news/research-environment-covid-19-lifebit-aws live Versel Neil 8 February 2022 Lifebit Counting on New UK Partnerships to Develop, Validate Federated Data Model https://www.genomeweb.com/informatics/lifebit-counting-new-uk-partnerships-develop-validate-federated-data-model#.Y91StezMI0R 3 February 2023 3 February 2023 https://web.archive.org/web/20230203183223/https://www.genomeweb.com/informatics/lifebit-counting-new-uk-partnerships-develop-validate-federated-data-model#.Y91StezMI0R live NHS Genomic Medicine Centres Genomics_England#NHS_Genomic_Medicine_Centres Research The Genomics England Clinical Interpretation Partnership (GeCIP) includes 2,500 UK and international clinicians and scientists from approximately 300 institutions in 24 countries. There are plans to increase this number. Researchers are organised in "domains" formed around particular conditions, cancer types and research areas such as Machine Learning and Health Economics. The partnership is integrated with the NHS and the aims include improving the use of genotype and phenotype data in healthcare, and providing a platform for genomic research collaborations to add to the knowledge base for genetic disorders.Written evidence submitted by Genomics England (GEN0015) https://committees.parliament.uk/writtenevidence/77268/pdf/ Committees 25 June 2024 January 2017Evidence on Genomics and genome-editing Committees 2017-04-01 https://committees.parliament.uk/writtenevidence/77657/html/ 2024-06-25 GenOMICC study on COVID-19 The 100,000 Genomes Project provided a pre-COVID reference set in the GenOMICC study on COVID-19. Genomics England worked in partnership with the GenOMICC consortium, led by the University of Edinburgh, to analyse the whole genome sequences of approximately 20,000 people who have been severely affected by COVID-19. This data was compared with 15,000 other genomes from people who were only mildly affected. It was combined with data set which now includes more than 120,000 genomes (from the "100,000 Genomes" Project). The 100,000 Genomes Project was referred to as the "incredibly important" pre-COVID reference set.https://www.genomicsengland.co.uk/covid-19/ GenOMICC COVID-19 study | Genomics England 4 May 2020 4 October 2021 4 October 2021 https://web.archive.org/web/20211004204001/https://www.genomicsengland.co.uk/covid-19/ live See also Genomics England Genome project Cancer Genome Project The Cancer Genome Atlas References External links Genomics England Health Education England's Genomics Education programme NHS England – Genomics East of England NHS Genomic Medicine Centre North Thames NHS Genomic Medicine Centre https://web.archive.org/web/20181212165749/http://www.ntgmc.nhs.uk/ 12 December 2018 13 Genomic Medicine Centres Genomics England Clinical Interpretation Partnership (GeCIP) Genomics England GENE Consortium partners Wellcome Genome Campus Illumina (sequencing work for the 100K Genome Project is carried out by Illumina's technologies at a sequencing centre on the Wellcome Genome Campus) Category:Gene tests Category:Genetic epidemiology Category:Genome projects Category:Medical genetics in the United Kingdom Category:Molecular genetics Category:National Health Service Category:Population genetics in the United Kingdom Category:Genomics Category:Human genome projects Category:Bioinformatics