Overview of 100,000 Genomes Project
The 100,000 Genomes Project is aiming to create a new genomic medicine service for the NHS. The project will allow patients with rare or unidentified conditions to be offered the opportunity of a diagnosis. Also, in time, there is the potential of new and more effective therapies for rare diseases and cancer including personalised care treatment plans.
If you are currently receiving care at one of the hospitals involved, either for a rare disease or cancer, the most important thing is that you receive the correct medical care. While we hope that whole genome sequencing will make a difference to lots of people in the future, for many with these conditions other tests may be more appropriate. Your clinical team will discuss the project with you if they believe it is the best option.
Patients with a rare disease, and their family members, will be invited to take part in the project after one of the clinicians refers the family to the recruitment team. A full list of eligible conditions can be found on the Genomics England website here.
The families most likely to be eligible are those that have been seen multiple times by clinical teams, and who, despite standard testing, are still without a genetic diagnosis. If this sounds like you, or your child, and you would be interested in finding out more please speak to your clinical team at your next appointment.
SWAN UK (Syndromes Without A Name) offers support and information to families of children with undiagnosed genetic conditions.
Recently diagnoses cancer patients, in some cases who have not yet received treatment, may also be eligible for the project. A full list of eligible cancers can be found on the Genomics England Website here.
Currently recruitment to the cancer arm of the project is only available at a few of our involved hospitals. If you are interested in taking part please speak to your clinical team.
London Cancer is a partnership of NHS, academic, charity and cancer specialists dedicated to providing expert, compassionate care for every patient, every time.
The process of taking part
With their consent participant’s genomic sequence (their DNA) and their medical record will be examined to try and identify the cause of disease. Although whole genome sequencing is the most extensive type of genetic testing available, due to limits on our understanding of the significance of all genomic variation there is no guarantee of a result. As soon as a result is available this will be fed back to participants by their clinical team.
Find out more about the process of taking part.
Participants’ genomics and health data, in an anonymised form, may also be made available to approved research teams trying to increase our understanding of genetics in general health and disease. The creation of such a large amount of data provides researchers with a great opportunity to identify new conditions and help us understand common conditions better.
You can learn more about how your data would be used on the Genomics England website here.
At the moment it unfortunately takes many months for results to come back. In future, this is likely to get quicker. Please remember that there is no guarantee that your results will contain any medically relevant information. However, any main findings will be fed back to the NHS and your hospital doctor will give you these.
Your hospital doctor will give you an explanation of any ‘main findings’ which are relevant to your cancer or rare disease. For some patients, a particular treatment may be suggested based on their results, but in most cases this won’t happen. However, we will continue to work on your data and feed back to you for as long as you remain within the Project.
Even if your results do not contain any information that is considered to be medically relevant, your participation in the 100,000 Genomes Project will still be vital in helping the treatment of future patients with similar conditions.
You can also choose to receive ‘additional findings’. These are findings which are not related to the cancer or rare disease that led you to take part in the Project. Additional findings are changes in your genes that are known to cause other conditions which can often be prevented or helped by NHS treatment. We only look for these changes if you want us to. This will be explained by your hospital doctor and clinical care team at the consent stage.
Read more about the results and feedback that participants can get.