Some frequently asked questions about The 100,000 Genomes Project
What is The 100,000 Genomes Project?
The 100,000 Genomes Project was set up by the Department of Health, to be delivered by Genomics England in partnership with eleven new regional Genomic Medicine Centres. The project will sequence 100,000 whole genomes from around 70,000 people in total by 2017. The results will be linked with patients’ medical records and stored securely. By combining this information and allowing access to this resource by authorised researchers, the project aims to:
- Bring direct benefit to some participants through a better understanding of the cause of their condition
- Make new discoveries that will help us to understand why some people get ill and others don’t
- Develop a genomic medicine service for the NHS
- Support researchers and companies of all sizes to develop new medicines, therapies and diagnostics
The project will initially focus on rare disease, cancer and specific infectious disease.
Some frequently asked questions about getting involved
This is because the cancer’s genome may change in response to treatment and we need to know what it was BEFORE treatment.
We have started with cancers that are common and affect a very large number of people. We will be adding other cancers in the future.
There are over 8000 rare diseases and we can’t include them all. The ones chosen represent those that were nominated as part of our pilot phase, for which there was unmet need (for instance, there is a proportion with no known genetic diagnosis) and those for which genome sequencing may offer best opportunity to better understand the disease. We expect more rare diseases to be included throughout the lifetime of the Project.
This is an important point but since we are comparing cancer genomes with the healthy genome of the person affected by that cancer, and the genomes of two unaffected healthy relatives with a person affected by rare disease, we will actually have tens of thousands of ‘normal’ genomes within the study.
Patients for the project can only be recruited through GMCs. We hope that in due course the number of GMCs will expand so that there is fuller coverage of the country.
Participation in other research projects does not preclude joining the 100,000 Genomes Project. However if you have been invited to join the 100,000 Genomes Project by your clinician, please notify them if you are currently involved in any other research studies.
The infectious disease strand of this Project is being led by Public Health England.
If you are prepared to share your genome and health data publicly on the internet, you might want to consider volunteering for the Personal Genome Project (PGP-UK). PGP-UK is a research study working with volunteers, irrespective of health status, using an open data access approach to advance personal and medical genomics.
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