The 100,000 Genomes Project has now received ethical approval for the main phase of the programme. This is awarded by a Health Research Authority Research Ethics Committee (REC) and is the approval of the project’s Protocol which includes the information which will be given to everyone participating in the study. The 100,000 Genomes Project aims to help NHS patients and their families by offering them a genetic diagnosis where they did not have one, plus the prospect of more choices in their care and better, more tailored treatments for their condition. The Protocol outlines all activity which will be undertaken within the main phase of the project.
The new approval means that the NHS Genomic Medicine Centres can begin inviting NHS patients and their families to join the 100,000 Genomes Project. Until now, participants with cancer and rare disease and their families have previously been invited to join the 100,000 Genomes Project via existing ‘pilot’ research projects, each with their own pre-existing REC–approved Protocol.
A key feature of the 100,000 Genomes Project Protocol is that it allows participants to receive feedback not just on the main medical condition they were recruited into the Project for, i.e. cancer or rare disease, but they can choose whether or not to receive additional information on their risk of developing ten additional ‘serious but actionable’ conditions. These are rare medical conditions but, if they are known about, their serious impact can either be prevented or reduced by interventions and treatment available within the NHS. Examples of these additional conditions include familial hypercholesterolaemia (where very high blood cholesterol can cause early heart attacks) and different forms of inherited cancers.
This additional feedback has been added as an option into the main phase Project with the views of patients and potential participants in mind, who have signalled they wish to have greater access to their genomic results from the 100,000 Genomes Project.
If participants have chosen to receive additional findings, and the results show that a person could potentially have another disorder, the participant’s clinician will outline how the conditions can be screened for and prevented or treated early by the NHS so that their effects might be reduced. Genomics England’s in-house ethics team are working on ways to extend the same offer in future to participants already enrolled via the pilot phases of the Project. All participants in the Project are free to refuse the offer of searching for these additional results. If they do not take up the offer, participants will continue to receive the best possible standard NHS care.
The 100,000 Genomes Project has the interests of NHS patients at its heart. As they have entrusted us with their genomic information, it seems only fair that we can offer participants options which they tell us they want and which may benefit their future health. All participants are equally free to choose not to take up this offer, if they would prefer not to.
We are reassured that the detailed and independent scrutiny of our Project by the Research Ethics Committee has found that the ethical governance we have built into this Project is appropriate. We look forward to continuing our dialogue with them and with patient and participant groups as the Project continues.
Professor Mark Caulfield
Chief Scientist at Genomics England
Despite recent rapid progress in our understanding, most rare genetic diseases remain intractable. The only way to improve this situation is through high quality medical research and the translation of outcomes into better care for those affected. Patients and families with rare diseases are very supportive of medical research and are keen to volunteer to be part of the 100,000 Genomes Project.
As Genetic Alliance UK has shown in its recent charter ‘Genome Sequencing: What do Patients Think?’, patients are keen to see their data shared in an ethical framework that will maximise the likelihood of new knowledge, creating novel therapies and thus improving their lives and those of their children.
We are delighted that Genomics England has successfully secured ethics approval and look forward to working with them to deliver the best possible outcomes for patients from this ground-breaking venture.
Alastair Kent, OBE
Director of Genetic Alliance UK, the UK’s national charity working to improve the lives of patients and families affected by genetic conditions
About the 100,000 Genomes Project Protocol
- Genomics England has approval from the HRA Committee East of England – Cambridge South (REC Ref 14/EE/1112).
- REC approved Projects may not deviate from the approved Protocol without further scrutiny and authorisation by the REC.
- The approved Protocol for the development, delivery, and operation of the 100,000 Genomes Project, sets out the patient and clinical benefit, scientific and transformational objectives, the implementation strategy, and the ethical and governance frameworks required.
- This includes the policy for data access that ensures all necessary safeguards are in place to ensure that the data and samples are only used for scientifically and ethically approved research within a secure and monitored environment.
About the Health Research Authority
The HRA’s goal is to make the UK a global leader for health research. Our primary role is to protect and promote the interests of patients and the public in health research and to streamline the regulation of research.
The HRA has categorised the 100,000 Genomes Project as a Bioresource, which streamlines the process of working with the NHS.