100,000 Genomes Project

The project was first announced by UK Prime Minister David Cameron in December 2012.[4] The Government set up a new company Genomics England to oversee the project[2] 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 Research, NHS England, Public Health England and Health Education England. In 2015 Northern Ireland[5] and Scotland[6] also joined the project with plans to start work the following year. In 2016, the Welsh government issued a statement of intent[7] and is considering participating in the 100,000 Genomes Project.[6]

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.

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.[8]

As of 1 October 2018, the 100,000 Genomes Project had completed the sequencing of 87,231 whole genomes in England[9] and results are in the process of being returned to NHS GMCs 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).[10]

In December 2018, the full 100,000 genomes milestone was reached.[11]

A 2019 review identified the initiative as an 'exemplar' in involving the public in genomic research.[12]

Following the pilot studies, NHS England ran a tender to appoint NHS Genomic Medicine Centres with responsibility for recruiting suitable patients, gaining their consent to participate in the project and taking samples for whole genome sequencing by Illumina (company). The successful bidders designated as NHS Genomic Medicine Centres are:

• East of England NHS GMC – designated for both cancer and rare disease. Led by Cambridge University Hospitals NHS Foundation Trust
• South London NHS GMC – designated for both cancer and rare disease. Led by Guy's and St Thomas' NHS Foundation Trust
• North West Coast NHS GMC – designated for both cancer and rare disease. Led by Liverpool Women's NHS Foundation Trust
• Greater Manchester NHS GMC – designated for both cancer and rare disease. Led by Central Manchester University Hospitals NHS Foundation Trust
• North Thames NHS GMC – designated for both cancer and rare disease. Led by Great Ormond Street Hospital for Children NHS Foundation Trust
• North East and North Cumbria NHS GMC – designated GMC for rare disease only. Led by The Newcastle upon Tyne Hospitals NHS Foundation Trust
• Oxford NHS GMC – designated for both cancer and rare disease. Led by Oxford University Hospitals NHS Trust
• South West Peninsula NHS GMC – designated for both cancer and rare disease. Led by Royal Devon and Exeter NHS Foundation Trust
• Wessex NHS GMC – designated for both cancer and rare disease. Led by University Hospital Southampton NHS Foundation Trust
• Imperial College Health Partners NHS GMC – designated for both cancer and rare disease. Led by Imperial College Healthcare NHS Trust
• West Midlands NHS GMC – designated for both cancer and rare disease. Led by University Hospitals Birmingham NHS Foundation Trust

In December 2015, two new NHS Genomic Medicine Centres were announced by NHS England:[13]

• Yorkshire and Humber NHS GMC – designated for both cancer and rare disease.
• West of England NHS GMC – designated for both cancer and rare disease.

There are now 13 designated NHS Genomic Medicine Centres (GMCs) across the country.

In 2017, Northern Ireland and Scotland began recruiting participants for the project and Wales aims to begin in 2017–18.

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.

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.

• Genomics England
• Genome project

• 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 Archived 2018-12-12 at the Wayback Machine
• 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)