Launched by the then Prime Minister David Cameron in 2014, the 100,000 Genomes Project aims to sequence (read) the DNA from thousands of patients with certain rare diseases and cancers to help with their diagnosis, treatment, and future NHS patient care.
The project is already transforming patients’ lives. Some have received a diagnosis for their condition for the first time. Others may have access to a personalised treatment plan based on their results. Everyone who takes part in the project is contributing to valuable medical research into rare diseases and cancer.
“It’s a privilege for Cambridge to be chosen to lead the East of England initiative. It’s also an exciting opportunity to transform health care for the future.
“The intention is to provide a rapid diagnosis for all rare genetic disease, facilitate improved treatments of these conditions and provide tailor made treatment for individuals with rare disease. The project also aims to improve cancer care by understanding the genetic changes that occur in cancers that point to new targets and new therapies for individual treatments”.
Professor Lucy Raymond, Consultant Clinical Geneticist and East of England NHS Genomic Medicine Centre Lead.
We are delighted to be able to offer the opportunity for patients and their families to participate in the 100,000 Genomes Project.
At the moment, the Project is looking for volunteers with certain rare diseases and recently-diagnosed cancers.
With a referral from your hospital doctor, children and adults of all ages may participate.
Your hospital doctor and NHS clinical care team will be happy to give you more information on what is involved.
You may be recruited into the Project at any of the East of England Genomic Medicine Centre sites – Cambridge, Leicester, Nottingham or Norwich. Please find contact details here.
Your hospital doctor and clinical care team will be happy to talk through the process with you so that you can decide whether or not you would like to get involved.
Please click here to find out more about the process for patients with rare diseases.
Please click here to find out more about the process for patients with cancer.
Frequently asked questions
We have put together a list of most frequently asked questions and answers. These cover general queries about the 100,000 Genomes Project and what it means to take part.
You can also find out more below:
- VIEW 10-minute introduction (this takes you to the national Genomics England website)
- Visit the national Genomics England website.
- View the youtube video about Genomics and Personalised Care.
- View this video about what is a genome and how does genome sequencing work? This short film courtesy of Great Ormond Street Hospital.