This project will sequence 100,000 whole genomes from about 70,000 NHS patients with either certain types of cancer or patients with rare disease plus their families.
With consent patients’ 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 in some cases. In other cases, not enough may yet be known about a particular cancer or rare disease to interpret an individual’s data.
By adding key information from medical records, and securely collating data, scientists can compare tens, hundreds or even thousands of people with the same rare condition. Allowing approved scientists to have monitored access to this data will improve our understanding of ill health and how to treat it.
Aims of the project:
- Improving care for patients: Some patients with rare disease may get a diagnosis for the first time which may lead to effective treatment.
- Setting up an NHS genomic medicine service: As a legacy of this project, the NHS will be able to offer genomic medicine to those patients who need it. Genomic medicine will enable stratified or personalised treatment for patients.
- For future generations: By looking at data from the 100,000 Genomes Project, scientists will gain new 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 agree that within a controlled and secure environment, scientists and researchers from both academia and 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.
What is happening locally?
- The 100,000 genomes project is run by 13 NHS Genomics Medicine Centres including Wessex NHS Genomics Medicine Centre (WGMC) hosted by University Hospital Southampton NHS Foundation Trust. The following hospitals are working in partnership with WGMC to recruit patients and collect tissue samples:
- Portsmouth Hospitals NHS Trust
- Hampshire Hospitals NHS Foundation Trust
- Solent NHS Trust
- Isle of Wight NHS Trust
- Royal Bournemouth and Christchurch Hospitals NHS Foundation Trust
- Poole Hospitals NHS Foundation Trust
- Salisbury NHS Foundation Trust
- Dorset County Hospital NHS Foundation Trust
If you would like to take part in the 100,000 Genome Project, find out more from University Hospital Southampton.
- Once consent is given, samples are collected from patients and appropriate family members. DNA is extracted locally, and sent for sequencing at the central facilities near Cambridge. The results are sent back to WGMC where clinical geneticists discuss relevant findings with patients and their families.
- Working with their local partner hospitals, WGMC will recruit 5000 patients with either a rare disease or cancer.
- Wessex AHSN supports Wessex GMC in implementing the 100,000 Genomes Project. We have helped surrounding hospitals to join as partners in finding and recruiting appropriate patients, and have organised meetings and events to ensure public, patients and clinicians have chance to understand, engage and participate in this transformational project.
“This project has the potential to transform the future of healthcare and we are delighted many patients from across the south can be involved and will benefit from it. It will improve the prediction and prevention of disease, enable new and more precise diagnostic tests and allow personalisation of drugs and other treatments to specific genetic variants.”
Professor Karen Temple, clinical geneticist, UHS; co-lead, Wessex NHS GMC