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Oxford University Hospitals NHS Foundation Trust
Oxford Genomic Medicine Centre

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100,000 Genomes Project

The 100,000 Genomes Project has now closed to recruitment.

The 100,000 Genomes Project is a government-funded, NHS England-led programme which aimed to sequence 100,000 genomes from around 70,000 people with cancer or rare disease.

The ultimate goal was to create a world class genomic medicine service across the NHS in the UK, transforming the way people are cared for.

Participants were recruited between 2015 and 2018 and were NHS patients with any one of over 200 genetic diseases, along with their families, and patients with certain types of cancer.

The project is still the most advanced national sequencing programme of its kind in the world.

In December 2018, Health Secretary Matt Hancock announced that the project had reached is goal of sequencing 100,000 Genomes of NHS patients.

Read the full press release about this landmark achievement here:

The UK has sequenced 100,000 whole genomes in the NHS - www.genomicsengland.co.uk

Results from the project are now helping to provide patients and families with precise diagnoses and the chance to learn more about the condition that affects them. Research on the data generated can lead to better information on prediction and prevention of disease for individuals, and the potential for new treatments and more precise genetic tests for everyone.

If you are taking part in the 100,000 Genomes Project, have a look at our pages especially for participants.

For participants

Data in the 100,000 Genomes Project

A public dialogue project published by Ipsos MORI in April 2019 showed that the public had clear limits about the use of their genomic data. Find out how Genomics England are protecting the privacy of participants and keeping data secure whilst allowing research into rare disease and cancer:

Data Access and Use - www.genomicsengland.co.uk

What is a genome?

Your genome is a set of instructions for making and maintaining you. It is written in a chemical code called DNA. All living things have a genome; plants, bacteria, viruses and animals.

Your genome is all 3.2 billion letters of your DNA. It contains around 20,000 genes. Genes are the instructions for making the proteins that build our bodies - from the keratin in hair and fingernails to the antibody proteins that fight infection.

Genes make up about 1-5 percent of your genome. The rest of the DNA, between the genes, used to be called 'junk DNA'. It wasn't thought to be important, but we now know that the DNA between the genes has a role in regulating the activity of genes and the genome. For example, it can switch genes on and off at the right time.

There is still much more to learn about what it all does, which is why the 100,000 Genomes Project and others like it around the world are so important.

Why use genomics in healthcare?

With new technologies we can now examine the whole of a person's DNA - their genome - quicker and cheaper than ever before. In this video, Vivienne Parry OBE, science writer, broadcaster and head of public engagement at Genomics England, introduces the fundamentals of genomics and its growing importance for healthcare. Hear how with new technologies we can now examine the whole of a person's DNA - their genome - quicker and cheaper than ever before.