The 100,000 Genomes Project is an NHS England initiative, run by Genomics England, which aims to sequence 100,000 genomes from around 70,000 people over four years. NHS patients with certain rare diseases, their close relatives, and patients with cancer are invited to take part. The idea is to develop a new genomic medicine service for the NHS.
Launched in 2014, the project comes to an end in September 2018 but volunteers are still needed. Professor Lucy Raymond, Consultant Clinical Geneticist and East of England NHS Genomic Medicine Centre Lead said: “The project is an exciting opportunity to transform health care for the future.”
The project has already transformed the lives of some patients. Many have received a diagnosis for the first time, while others will access personalised treatment based on their results. Everyone who takes part in the project is contributing to valuable medical research.
The intention is to provide a rapid diagnosis for all rare genetic disease, facilitate improved management, and work towards developing tailor made treatments for individuals with rare diseases.
The project also aims to improve cancer care by understanding the genetic changes that occur in cancers. This in turn could lead to new therapies for individual treatments.
The 100,000 Genomes Project is looking for volunteers in the East of England with certain rare diseases and recently-diagnosed cancers.
Children and adults of all ages, with a referral from a hospital doctor, may take part in the project.
All of the East of England Genomic Medicine Centre sites, in Cambridge, Leicester, Nottingham, Norwich, Derby and Papworth are recruiting volunteers and you can get in touch with us by using our contact form.
Genomics England has more details for:
For more information about the 100,000 Genomes Project, we have put together a list of patients’ frequently asked questions (FAQs). These cover general queries and what it means to take part. We also have an Ask service, where our experts answer your questions.
You may also find it useful to watch several YouTube videos explaining genomics and the 100,000 Genomes Project:
- Genomics England – About the 100,000 Genomes Project
- NHS Alliance – Genomics and Personalised Care
- Great Ormond Street Hospital – My Genome Sequence