The 100,000 Genomes Project is a now-completed

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project managed by Genomics England 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 succi ...

whole

genome In the fields of molecular biology and genetics, 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 ...

s from

National Health Service The National Health Service (NHS) is the umbrella term for the publicly funded healthcare systems of the United Kingdom (UK). Since 1948, they have been funded out of general taxation. There are three systems which are referred to using the " ...

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, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discove ...

, some common types of

cancer Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body. These contrast with benign tumors, which do not spread. Possible signs and symptoms include a lump, abnormal bl ...

, 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.

History

The project was first announced by UK Prime Minister

David Cameron David William Donald Cameron (born 9 October 1966) is a British former politician who served as Prime Minister of the United Kingdom from 2010 to 2016 and Leader of the Conservative Party from 2005 to 2016. He previously served as Leader o ...

in December 2012. 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 Jeremy Richard Streynsham Hunt (born 1 November 1966) is a British politician who has served as Chancellor of the Exchequer since 14 October 2022. He previously served in the Cabinet as Secretary of State for Culture, Olympics, Media and Sport ...

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 research, clinical, public health, Social care in England, social care and translational research. With a budget of over £1.2 bil ...

(NIHR),

NHS England NHS England, officially the NHS Commissioning Board, 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 side of th ...

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 ( ga, Tuaisceart Éireann ; sco, label=Ulster-Scots, Norlin Airlann) is a part of the United Kingdom, situated in the north-east of the island of Ireland, that is variously described as a country, province or region. North ...

and

Scotland Scotland (, ) is a country that is part of the United Kingdom. Covering the northern third of the island of Great Britain, mainland Scotland has a border with England to the southeast and is otherwise surrounded by the Atlantic Ocean to th ...

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 UCLPartners is an academic health science centre located in London, England. It is the largest academic health science centre in the world, treats more than 1.5 million patients each year, has a combined annual turnover of around £2 billion and i ...

and

Newcastle upon Tyne NHS Foundation Trust Newcastle upon Tyne Hospitals NHS Foundation Trust is one of the Shelford Group of University Teaching Hospitals and an NHS Foundation Trust. It provides acute medical services in Newcastle upon Tyne, England, at Royal Victoria Infirmary and ...

. 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 or Great Ormond Street, 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 Hospi ...

Guy's and St Thomas' NHS Foundation Trust Guy's and St Thomas' NHS Foundation Trust is an NHS foundation trust of the English National Health Service, one of the prestigious Shelford Group. It runs Guy's Hospital in London Bridge, St Thomas' Hospital in Waterloo, Evelina London Chil ...

Moorfields Eye Hospital NHS Foundation Trust Moorfields Eye Hospital NHS Foundation Trust is an NHS foundation trust which runs Moorfields Eye Hospital. The Trust employs over 1,700 people. Over 24,000 ophthalmic operations are carried out and over 300,000 patients are seen by the hospit ...

and Oxford University Hospitals NHS Trust. 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 The 100,000 Genomes Project is a now-completed Government of the United Kingdom, UK Government project managed by Genomics England that is sequencing whole genomes from National Health Service (England), National Health Service patients. The pro ...

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 News on January 12, 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.

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 inquiry devoted to understanding and building methods that 'learn', that is, methods that leverage data to improve performance on some set of tasks. It is seen as a part of artificial intelligence. Machine ...

and

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

. 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 or physical form and structure, its developmental processes, its biochemical and physiological prop ...

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.

Industrial partnerships

From 2015 to 2017, 13 companies joined to form a pre-competitive industry trial, named the Genomics Expert Network for Enterprises (GENE) Consortium. This trial aimed to bring industry expertise into the 100,000 Genomes Project to identify potential benefits for patients, as the private sector is involved in developing new medicines and diagnostics for the NHS.

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
{{Webarchive, url=https://web.archive.org/web/20181212165749/http://www.ntgmc.nhs.uk/ , date=2018-12-12
13 Genomic Medicine Centres

Genomics England Clinical Interpretation Partnership (GeCIP)

Genomics England GENE Consortium partners

Wellcome Genome Campus

(sequencing work for the 100K Genome Project is carried out by Illumina's technologies at a sequencing centre on th

Gene tests Genetic epidemiology Genetics in the United Kingdom Genome projects Emerging technologies Medical genetics Molecular genetics National Health Service Genomics Human genome projects Bioinformatics