The 100,000 Genomes Project is a now-completed

UK Government ga, Rialtas a Shoilse gd, Riaghaltas a Mhòrachd , image = HM Government logo.svg , image_size = 220px , image2 = Royal Coat of Arms of the United Kingdom (HM Government).svg , image_size2 = 180px , caption = Royal Arms , date_es ...

project managed by

Genomics England Genomics England is a British company set up and owned by the United Kingdom Department of Health and Social Care to run the 100,000 Genomes Project. The project aimed in 2014 to sequence 100,000 genomes from NHS patients with a rare disease a ...

that is sequencing 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 ge ...

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 b ...

, 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 The prime minister of the United Kingdom is the head of government of the United Kingdom. The prime minister advises the sovereign on the exercise of much of the royal prerogative, chairs the Cabinet and selects its ministers. As modern pr ...

David Cameron 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 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, 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,

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 Health Education England (HEE) is an executive non-departmental public body of the Department of Health and Social Care. Its function is to provide national leadership and coordination for the education and training within the health and public h ...

. 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. Nort ...

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 the ...

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 Cambridge University Hospitals NHS Foundation Trust is a British public sector healthcare provider located in Cambridge, England. It was established on 4 November 1992 as Addenbrooke's National Health Service Trust, and authorised as an NHS fou ...

, 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 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 Hospit ...

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 Child ...

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 hospita ...

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 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 #REDIRECT BBC #REDIRECT BBC Here i going to introduce about the best teacher of my life b BALAJI sir. He is the precious gift that I got befor 2yrs . How has helped and thought all the concept and made my success in the 10th board exam. ...

...

History

NHS Genomic Medicine Centres

Research

GenOMICC study on COVID-19

Industrial partnerships

See also

References

External links