Frequently asked questions
About Genomics England and the 100,000 Genomes Project
The Department of Health & Social Care chose to establish Genomics England as a subsidiary limited company as it was the most effective way to ensure the 100,000 Genomes Project got up and running as quickly as possible. If it was established as an agency or a public body then this would have required primary legislation. The implication of choosing this latter option would have been delay and being unable to secure sequencing capacity (at the time, there was limited global sequencing capacity). This would have had a knock-on effect on patients by delaying any benefit from any new medical advancements found as a result of whole genome sequencing. It also goes against government policy to establish more agencies and public bodies.
Genomics England’s funding supports whole genome sequencing for patients at NHS England Genomic Medicine Centres.
- The Northern Ireland Executive and the Medical Research Council are funding the Northern Ireland Genomic Medicine Centre, which means patients there can also participate. ⇒ Contact details
- Scotland joined the 100,000 Genomes Project as the Scottish Genomes Partnership (link to online contact) and is recruiting participants.
- Wales joined the 100,000 Genomes Project in February 2018, having established the Wales Genomic Medicine Centre (link to online contact) at the University Hospital of Wales in Cardiff.
There is nothing to stop any other country approaching us to add their sequencing data to the Genomics England database provided that they meet the high standards of the 100,000 Genomes Project research protocol.
No. This is a common misconception but it’s 100,000 human genomes, not patients. Every cancer patient will contribute two genomes for comparison (one from a healthy cell, one from their cancer). Three genomes will come with every rare disease participant for comparison (one from the affected person and two more from close blood relatives). Assuming half of the genomes will come from cancer and half from rare disease, the figures work out roughly like this:
Cancer = 50,000 genomes (25,000 patients)
Rare disease = 50,000 genomes (15,000 patients and 35,000 healthy relatives)
In fact the final mix was over 97,000 people, which includes patients and their family members.
The number was chosen based on experience from other studies like the UK10K programme. As the cost of sequencing fell and the knowledge about rare variants increased it was decided that 100,000 genomes would be the right balance between cost and benefit for NHS patients, to build a clinical and research legacy.
To fulfil the vision of the Project, we were always working at the edge of known science. We made good progress, but as with all scientific research, it takes time to get it right. This was particularly the case for the cancer element of the project. This is why Genomics England, the Department of Health & Social Care and NHS England agreed that the project would be extended from 2017 until the end of 2018. As far as Genomics England is concerned, the project is not complete until we have returned results to all participants. We expect to do this shortly.
The government’s Strategy for UK Life Sciences, One Year On report (December 2012), announced the establishment of the 100,000 Genomes Project. This report outlined how the Project would initially focus on cancer, rare diseases and infectious diseases because the introduction of genomic technology in these areas first would most likely bring the greatest benefit for NHS patients.
Prior to Genomics England being established, the Chief Medical Officer for England, Professor Dame Sally Davies, established a Strategic Priorities Working Group for the 100,000 Genomes Project which was chaired by Professor David Lomas, Dean of Medical Sciences at University College London. Based on the advice of that working group, rare diseases, certain cancers, and infectious disease were recommended for inclusion in the Project.
Based on robust scientific advice and clinical evidence, Genomics England and NHS England selected the initial rare diseases and cancers for the main programme. The 100,000 Genomes Project Protocol outlined in detail the basis on which the specific cancers and the rare diseases were selected. As whole genome sequencing was a new technology about to be applied in the NHS for the first time, the aim was to maximise medical insights alongside new scientific discoveries as early on as possible in order to understand how genomics influences disease and how it can be applied within a healthcare setting. It was thought (and has been borne out) that the range of specific diseases selected would bring us these insights and give us a much greater understanding and knowledge which could be applied to other diseases in the future.
Clinicians working in NHS Genomic Medicine Centres, and researchers working in our GeCIP or GENE Consortium Partnerships were also able to nominate a rare disease to include in the Project.
Cancer Research UK research published in February 2015 (opens in new window) indicated that half of all Britons will get some form of cancer at some point in their lives and with a surprising large number of people affected by a rare disease – around 3 million people, half of them children – genome sequencing is already leading to new or more precise diagnosis or a different course of treatment.
The 100,000 Genomes Project was all three. A research project, a transformation project using genomic medicine to change how NHS patients are treated, and a clinical project.
About our collaborations and partners
NHS England and the 13 NHS Genomic Medicine Centres (GMCs) were important delivery partners for Genomics England. We worked together to ensure not only that this landmark project succeeded, but that when the project ends, there would be a sufficiently robust genomics infrastructure in place to enable genomic medicine to be carried out routinely in the NHS. Specifically, NHS clinicians and healthcare teams working in NHS Genomic Medicine Centres identified, enrolled and registered suitable patients (and members of their family in the case of rare disease patients); were responsible for taking informed consent; capturing clinical information; ensured an adequate supply of samples and fed back results to participants. Clinicians and the GMCs will be important partners within the Genomics England Clinical Interpretation Partnership (GeCIP) to help us learn how to interpret genomic data in a clinical context and embed that learning within the NHS.
One of the challenges of this Project when it was first established was that there were no sequencing machines in England of the type capable of supporting the Project, both in terms of the number of machines required to sequence 100,000 genomes and the accuracy that researchers and clinicians would need.
Genomics England signed a partnership agreement with the sequencing firm Illumina in August 2014 which ensures there is sufficient sequencing capacity. With the generous support of the Wellcome Trust, the sequencing machines are now located in a £27m sequencing centre at the Wellcome Trust’s Sanger Institute near Cambridge.
In February 2016, we announced a bioinformatics partnership with Illumina. This agreement is an extension to our sequencing partnership. The new bioinformatics partnership will develop a set of informatics tools, which will support the delivery of genomic clinical and research services at a population scale to the NHS Genomic Medicine Centres and the Genomics England Clinical Interpretation Partners.
Health Education England (opens in new window) is a key delivery partner in the 100,000 Genomes Project and continues to play a vital role in bringing genomics to the NHS. The work of Health Education England’s genomics education programme will address the longer term issues of genomics education and training: building on the legacy of Genomics England, supporting workforce transformation through the development of skills in the NHS that helps better adoption and spread of genomic technologies.
One of Public Health England’s top priorities is ‘to protect the public’s health from infectious diseases and other hazards to health’ and provides the specialist microbiology services in England. As a result, Public Health England was asked to lead this part of the 100,000 Genome Project, focusing on the potential importance of whole genome sequencing in some infectious diseases, such as tuberculosis, in public health responses, as well as implications of clinical care of patients.
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FAQs for GeCIP members & Researchers
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