The 100,000 Genomes Project is linking the genomes of people with rare diseases and cancer to their health records in order to gain new insights into the causes, diagnoses and treatments of disease. This work has the potential to improve treatments for current patients as well as lead to breakthroughs in the future.

Why is this work needed?

Genomics is the study of someone’s complete genetic ‘code’. The science of genomics has progressed rapidly since the first full human genome was sequenced in 2003. Initially costing £2 billion and taking 13 years, a person’s genome can now be sequenced for less than £1,000 in just a few days. This dramatic development has created new opportunities to improve diagnosis and treatment and enable new medical research.

What is happening?

This project aims to sequence 100,000 genomes from 70,000 people. The study is recruiting NHS patients with certain types of cancer or a rare disease. Family members of those with a rare disease are also invited to the study for comparison.

The full genomes are then linked to the person’s health records, so that researchers can learn more about the people involved, such as their heart rate and blood pressure, medicines they are taking and past illnesses. The project also collects data from other sources like national disease registries. The detail of this data can help researchers to better understand disease and to investigate the complex relationship between genes, lifestyles and illnesses.

What are the benefits?

The project wants to create a new NHS genomic medicine service, which can better diagnose rare diseases and cancer and tailor treatments to an individual patient. For example, genomic information might tell a doctor whether or not a patient’s tumour is likely to be responsive to radiotherapy, information that can then be used to guide their treatment.

This data will also provide a valuable resource to researchers, allowing them to find the best way to interpret and use genomic data, and to improve our understanding of the causes and treatments of disease.

What type of data is involved?

Participants’ genomes are sequenced (from a blood or saliva sample) and linked with their NHS health records.

All participants consent to have their genome sequenced and to have this linked with their medical records. Data is de-personalised, and when dealing with identifiable data there are additional safeguards and processes in place. Identifiable data is only used when it is being returned to a person’s own clinician to support their treatment.

Oversight by the Genomics England Access Review Committee will ensure that any researchers wanting access to de-personalised data have a valid research purpose . Genomics England’s security and information governance policies outline rigorous criteria for acceptable uses of the data. No raw genome data can be taken away. The data will be kept within Genomics England’s data centre and will be constantly under its control. Genomics England commits itself to constant testing and re-testing of its security systems to ensure data security.

Who is funding and collaborating on this work?

Genomics England is a wholly owned company of the Department of Health and this programme was made possible by the National Institute for Health Research, NHS England, Public Health England and Health Education England.

Where can I go for more information?

Genomics England