The 100,000 Genomes Project is a now-completed

UK Government His Majesty's Government, abbreviated to HM Government or otherwise UK Government, is the central government, central executive authority of the United Kingdom of Great Britain and Northern Ireland.

project managed by

Genomics England Genomics England is a company wholly owned by the United Kingdom's Department of Health and Social Care. Established in 2013, it was tasked with delivering the 100,000 Genomes Project, a pioneering initiative that sequenced 100,000 genomes fro ...

that is

sequencing In genetics and biochemistry, sequencing means to determine the primary structure (sometimes incorrectly called the primary sequence) of an unbranched biopolymer. Sequencing results in a symbolic linear depiction known as a sequence which succ ...

whole

genome A genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as ...

s from

National Health Service The National Health Service (NHS) is the term for the publicly funded health care, publicly funded healthcare systems of the United Kingdom: the National Health Service (England), NHS Scotland, NHS Wales, and Health and Social Care (Northern ...

patients. The project is focusing on

rare diseases A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financ ...

, some common types of

cancer Cancer is a group of diseases involving Cell growth#Disorders, abnormal cell growth with the potential to Invasion (cancer), invade or Metastasis, spread to other parts of the body. These contrast with benign tumors, which do not spread. Po ...

, and infectious diseases. 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. The project has received over £300 million from public and private investment.

History

The project was first announced by UK Prime Minister

David Cameron David William Donald Cameron, Baron Cameron of Chipping Norton (born 9 October 1966) is a British politician who served as Prime Minister of the United Kingdom from 2010 to 2016. Until 2015, he led the first coalition government in the UK s ...

in December 2012. The Government set up a new company

to oversee the project with the plan to focus on rare diseases, cancer, and infectious diseases announced by Health Secretary

Jeremy Hunt Sir Jeremy Richard Streynsham Hunt (born 1 November 1966) is a British politician who served as Chancellor of the Exchequer from 2022 to 2024 and Foreign Secretary from 2018 to 2019, having previously served as Secretary of State for Health a ...

in July 2013. The project was also made possible by the

National Institute for Health and Care Research The National Institute for Health and Care Research (NIHR) is the British government's major funder of clinical, public health, social care and translational research. With a budget of over £1.2 billion in 2020–21, its mission is to "impr ...

(NIHR),

NHS England NHS England, formally the NHS Commissioning Board for England, is an executive non-departmental public body of the Department of Health and Social Care. It oversees the budget, planning, delivery and day-to-day operation of the commissioning si ...

Public Health England Public Health England (PHE) was an executive agency of the Department of Health and Social Care in England which began operating on 1 April 2013 to protect and improve health and wellbeing and reduce health inequalities. Its formation came as a ...

, and Health Education England. In 2015,

Northern Ireland Northern Ireland ( ; ) is a Countries of the United Kingdom, part of the United Kingdom in the north-east of the island of Ireland. It has been #Descriptions, variously described as a country, province or region. Northern Ireland shares Repub ...

and

Scotland Scotland is a Countries of the United Kingdom, country that is part of the United Kingdom. It contains nearly one-third of the United Kingdom's land area, consisting of the northern part of the island of Great Britain and more than 790 adjac ...

also joined the project with plans to start work the following year. In 2016, the Welsh government issued a statement of intent 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 Great Ormond Street Hospital (informally GOSH, formerly the Hospital for Sick Children) is a children's hospital located in the Bloomsbury area of the London Borough of Camden, and a part of Great Ormond Street Hospital for Children NHS F ...

, Guy's and St Thomas' NHS Foundation Trust, Moorfields Eye Hospital NHS Foundation Trust and Oxford University Hospitals NHS Trust. 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. 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. As of 1 October 2018, the 100,000 Genomes Project had completed the sequencing of 87,231 whole genomes in England 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
by James Gallagher published by

BBC The British Broadcasting Corporation (BBC) is a British public service broadcaster headquartered at Broadcasting House in London, England. Originally established in 1922 as the British Broadcasting Company, it evolved into its current sta ...

News on 12 January 2016 In December 2018, the full 100,000 genomes milestone was reached.Fergus Walsh: Faster diagnosis from 'transformational' gene project
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. A 2019 review identified the initiative as an 'exemplar' in involving the public in genomic research. 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.

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 Machine learning (ML) is a field of study in artificial intelligence concerned with the development and study of Computational statistics, statistical algorithms that can learn from data and generalise to unseen data, and thus perform Task ( ...

and

Health Economics Health economics is a branch of economics concerned with issues related to Health care efficiency, efficiency, effectiveness, value and behavior in the production and consumption of health and healthcare. Health economics is important in dete ...

. The partnership is integrated with the NHS and the aims include improving the use of

genotype The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a ...

and

phenotype In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological propert ...

data in healthcare, and providing a platform for genomic research collaborations to add to the knowledge base for genetic disorders.

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.

References

External links