The 100,000 Genomes Project

The 100,000 Genomes Project aims to create an entirely new medical service based on genomic information for NHS patients.

Cambridge University Hospitals is leading the East of England Genomics Medicine Centre (NHS GMC), one of 13 centres in England designated to drive the national project. We are partnering with Leicester, Nottingham and Norfolk and Norwich hospitals to provide this service in the East of England. 

About the 100,000 Genomes Project

The project will be looking at the genetic code from people who have a rare disease or a common cancer.

The results will be linked with medical histories and stored securely. By doing this the project aims to:

  • Better understand the cause of rare diseases and cancers
  • Discover why some people get ill and others don’t
  • Learn the best way to use genetic information to help people in the NHS
  • Support doctors and healthcare companies to develop new treatments and ways of diagnosing disease 

The East of England NHS GMC aims to gather 9,000 samples (6,000 for rare diseases and 3,000 for cancer). Cambridge University Hospitals will contribute approximately 4,000 samples to the project and more than 3,500 patients and relatives will take part.

Taking part – what is involved

Discussion: Please talk to your hospital doctor or nurse about your suitability to take part. They will refer you to the project team if you are eligible.

Information: The project team will contact you to explain more about the project  and answer any questions you might have.

Appointment: If you wish to participate an appointment will be booked for you either as a part of your routine clinical appointment or at a specific clinic in the hospital. During the visit you will be asked to fill in a consent form and give a blood sample for the project. If you are participating as a cancer patient, a sample will also be taken from your tumour when you have your surgery as part of your routine health care.

Feedback: Results will be fed back to you as they become available, but may take a long time to receive. At the start of the project this may involve a wait of over a year, which should decrease to about three months at the end of the project as it becomes more routine.


To read more about this project please visit Genomics England website:

EE-GMC recruitment team: or telephone 01223 254292 

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