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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 is a government-funded, NHS England-led programme which will sequence 100,000 genomes from around 70,000 people with cancer or rare disease. The ultimate aim is to establish a world class genomic medicine service across the NHS in the UK, transforming the way people are cared for.

Participants are NHS patients with any one of over 200 genetic diseases, along with their families, and patients with certain types of cancer. Patients and families may be offered a diagnosis where there wasn’t one before, and the chance to learn more about the condition that affects them. This leads to better information on prediction and prevention of disease and the potential for new and more precise genetic tests.

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

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:

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 introduces the fundamentals of genomics and its growing importance for healthcare.

The project will enable new medical research. Partnerships with university research teams and drug companies bring the potential for the development of new and more effective drugs and a greater understanding of the causes of disease and the effect of treatments.

Combining genomic sequence data from thousands of participants and long-term medical records creates a powerful cutting-edge resource. Researchers have the opportunity to study how best to use genomics in healthcare and understand how to interpret the data to help patients.

The project aims to kick-start a UK genomics industry. Forming partnerships with commercial enterprises such as pharmaceutical companies is the best and quickest way to ensure that understanding from the project is turned into new medicines. It will also help to create new jobs and make the UK a world leader in this field.

For more information about how personal data is handled securely, please visit:

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.