Frequently asked questions

About Genomics England and the 100,000 Genomes Project

The Department of Health 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 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. Scotland has recently joined the 100,000 Genomes Project. Wales is actively considering opportunities to partner with Genomics England as part of their planned strategy on genomics and precision medicine which was announced in March 2016.

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. Our partnerships and collaborations include researchers and companies from around the world.

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

So about 75,000 people in total, 40,000 of which will be patients.

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.

The 100,000 Genomes Project has been running a series of pilots with Cancer Research UK, the NIHR Biomedical Research Centres and a number of hospitals during 2014 and 2015. We are learning a lot from the pilots and we will be applying this knowledge to the main phase of the Project which runs from 2015 to 2017. All 100,000 samples will be sequenced by the end of 2017 when the Project ends.

The government’s Strategy for UK Life Sciences, One Year On report (December 2012), announced the establishment of the 100,000 Genomes Project. In this report, it outlined that 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 have now selected the initial rare diseases and cancers for the main programme. The 100,000 Genomes Project Protocol (opens as PDF) outlines in detail the basis on which the specific cancers and the rare diseases were selected. As whole genome sequencing is a new technology about to be applied in the NHS for the first time, we want to maximise medical insights alongside new scientific discoveries as early on as possible so we can understand how genomics influences disease and can be applied within a healthcare setting. The expectation is that the range of specific diseases selected at this stage of the Project will bring us these insights and give us a much greater understanding and knowledge which can 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 can nominate a rare disease to include in the Project.

Cancer Research UK announced in February 2015 (opens in new window) that it estimates 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 is not simply a research project. It is a transformation project using genomic medicine to change how NHS patients are treated.  It is also a new way of caring for patients. To sequence 100,000 genomes over four years is immensely ambitious and has never been done on this scale anywhere in the world before.

Genomics England is working within the UK healthcare system. This is to ensure the project will leave a legacy of world class genomic medicine for patients benefit. This means training healthcare staff in new skills and changing our practices to maximise our ability to use this technology. We are also leaving an infrastructure in place to handle DNA samples and clinical data required for whole genome sequencing.

About our collaborations and partners

NHS England and the 11 NHS Genomic Medicine Centres (GMCs) are important delivery partners for Genomics England. We are working in collaboration to ensure not only that this landmark project succeeds, but that when the project concludes in 2017 there is 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 will identify, enrol and register suitable patients (and members of their family in the case of rare disease patients); be responsible for taking informed consent; capturing clinical information; ensuring there is an adequate supply of samples and feeding 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 will be located in a new £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. 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 has been asked to lead this part of the 100,000 Genome Project, focussing 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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