Supporting people across South London and Kent, Surrey and Sussex

The 100,000 Genomes Project


The 100,000 Genomes Project closed for national recruitment in September 2018 for Rare Disease patients and in December 2018 for Cancer patients. We are now working on sequencing and analysing the results for the 14,000 patients we recruited to the project.

Our purpose

The goals of the 100,000 Genomes Project include using whole genome sequencing:

  • To identify novel driver mutations for cancer and to understand the evolutionary architecture of cancer through primary and secondary malignant disease; and
  • To increase discovery of pathogenic variants for rare disease.

About the 100,000 Genomes Project

The project aims to sequence 100,000 whole genomes from about 70,000 people, across the country. Participants are NHS patients with certain types of cancer and patients with rare disease plus their families.

With their consent their genomes will be sequenced and linked to details about an individual’s medical condition. Doing this may help medical teams provide better diagnosis or treatment. But it may not because not enough is known yet about the meaning of all the genomic data.

By adding key information from medical records and putting all the data in one highly secure place, scientists can compare the data from tens, hundreds or even thousands of people with the same condition. Allowing approved scientists to have monitored access to this data is a very powerful way to understand the causes of ill health and how to treat it.

What is a genome?

Your genome is one whole set of your genes, plus all the DNA between your genes. There is a copy in almost every cell of your body and it is the instructions for making, running and repairing you. Genes account for less than 5% of your genome; it used to be thought that the rest of the DNA was junk but now we know all of your genome is important. That is why we are doing whole genome sequencing. Sequencing means reading all the 3 billion DNA letters in your genome one by one.

Aims of the project

Improving care for patients: Some patients with rare disease may get a diagnosis for the first time or discover what treatment might work best.

Setting up an NHS genomic medicine service: By the time it finishes, this project will have put everything in place to enable the NHS to offer genomic medicine to those patients who need it. Genomic medicine will mean personalised treatment for patients.

For future generations: By looking at all the 100,000 Genomes Project data, scientists will gain new insights and understanding about the causes of disease and find better ways of helping patients, especially those who have conditions that are currently hard to treat.

To kick start a UK genomics industry: Participants generously agree that researchers from industry such as pharmaceutical companies can look at their data. This is the best and quickest way to ensure that understanding from the project is turned into new medicines and diagnostics for patients. It will also help establish new jobs and companies in this important field in the UK.

Details of the approach being adopted to genomics research using the data collected from the 100,000 Genomes Project is provided on the Genomics England website.


Who is involved?

The project is being run by Genomics England, a company wholly owned by the Department of Health. Genomics England is working together with NHS England, Health Education England and Public Health England to deliver the 100,000 Genomes Project. NHS Genomic Medicine Centres (GMCs) have been set up across the country to recruit patients, take the samples and provide medical information to the project.

Genomics England

NHS England

Who is eligible?

At the moment, patients with certain inherited rare diseases and some common cancers may be able to take part. Patients are referred to their local GMC by their clinical geneticist or hospital consultant. In the future, it is possible that patients with other conditions will be able to take part too.

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