(NOT PUBLISHED) FOR REF ONLY
How do I take part in the 100,000 Genomes Project?
Many people have contacted us in the hope that they can take part in the 100,000 Genomes Project. We are very grateful for their interest and enthusiasm.
The 100,000 Genomes Project is currently in the early stages. This means we can’t yet offer whole genome sequencing to as many people in as many areas as will be possible in the future. We are also restricting the number of conditions that we are covering whilst we are learning how best to deliver this NHS Genomics Medicine service.
If you would like to be involved, please read the following information.
If you are currently healthy, we cannot involve you as this project is for NHS patients who have a rare disease or cancer.
If you are currently healthy but have close relatives with inherited forms of either cancer or rare disease, you cannot volunteer for the project yourself. It has to come through the affected person. If they become part of the Project, two further genomes from close relatives would be sought. You would only be contacted if their doctors thought that your genome would provide useful information to assist in the interpretation of their genome.
If you are currently an NHS patient because you either have a rare disease or because you have recently been diagnosed with cancer, the most important thing for you is that you get the right treatment. While we hope that whole genome sequencing will make a difference to lots of people in the future, for many patients with these conditions other tests will be more appropriate. For this reason, you can only be referred to the 100,000 Genomes Project by a clinician.
It is early days for the Project and while we set it up, we regret that you are unlikely to be able to take part unless you are being cared for at one of the designated NHS Genomic Medicine Centres. Please note that we currently have no facility to recruit patients in or from either Scotland, Wales or Northern Ireland although we are hoping this will alter in the future.
The patient most likely to be eligible for this project will already be known to their local clinical genetics service where they will usually have had one or more appointments and tests. They may have been given a provisional diagnosis but not yet have had a molecular diagnosis (a diagnosis based on their genetic test result rather than on other signs or symptoms). Eligible patients will most likely have, or be thought to have, one of the diseases listed here. Please note that this list is provisional and more conditions are being reviewed and will be added in the future.
If this sounds like you, please talk to your clinician at your next regular appointment.
At present there is very limited recruitment of cancer patients because we need to sort out the complex issues around how best to collect the samples. When we do begin recruitment in earnest, eligible patients will be some of those very recently been diagnosed with one of these sorts of cancers – breast, bowel, ovarian, prostate, or lung – AND –very importantly, not yet have received any chemotherapy or radiotherapy treatment. We will also be recruiting patients with chronic lymphocytic leukaemia (CLL) in collaboration with existing clinical trials.
Please look at this page again in the future as our recruitment may change as new Genomic Medicine Centres are added or as new conditions are included.