Here you can find some of the most frequently asked questions and answers.
These cover queries about taking part and more general questions about the 100,000 Genomes Project.
ABOUT THE 100,000 GENOMES PROJECT
- What is the 100,000 Genomes Project?
- Where is the 100,000 Genomes Project running?
- What are the project’s aims?
- Does the project cover all diseases?
- Why doesn’t it include all rare diseases?
- Why are only a few types of cancer included?
- What is a genome?
- Are you involving 100,000 patients?
- Is this an England-only project?
- How Many Rare Disease and Cancers are there on the 100k Genome Project?
- How do I promote this project?
- Can I participate in the project?
- Will I get results?
- I have cancer but have started treatment – why can’t I join the project?
- I think I have a rare disease – can I take part?
- Do you have examples of patients who are already involved in the project?
- What if I agree to participate and then decide I don’t want to be in the project anymore?
- If I take part will it affect my existing NHS care?
- What will I need to do if I volunteer?
- Will it hurt when a blood sample is taken?
- How much time will I need to commit?
- I’m interested in volunteering for genomic research, but I am not currently eligible for the 100,000 Genomes Project. Are there other studies that might be relevant?
ABOUT THE 100,000 GENOMES PROJECT
The innovative 100,000 Genomes Project will gather important data from people’s genes to improve patient care. We’re sequencing (reading) DNA from thousands of patients with certain rare diseases and cancers to help with their diagnosis, treatment and future NHS patient care. This ground-breaking project will transform the NHS and the lives of some patients. Some may get a diagnosis for their condition for the first time. Others may have access to a personalised treatment plan based on their results. And everyone will contribute to valuable medical research into rare diseases and cancers.
The project is recruiting patients from across England. A number of hospitals have been chosen to run the project locally and encourage patients to take part in the pioneering programme. Cambridge University Hospitals is delighted to have joined forces with university hospitals in Leicester, Nottingham and Norwich to run the project in our region. Together, all four hospitals form the regional East of England NHS Genomics Medicine Centre. For a full list of the hospital sites involved across England please visit this page (this link takes you to the Genomics England website).
The project is sequencing (reading) 100,000 DNA codes from patients with certain rare diseases and cancers. It aims to:
- lead to better, earlier diagnosis of cancer and rare diseases;
- improve patient care by making health care more personal;
- help researchers and scientists understand disease and tailor personal treatment plans; and
- help scientists and doctors find new ways of spotting and treating illness.It may also be an opportunity for patients to connect with other families with rare conditions.
At the moment we are looking at certain rare diseases and cancers because these are thought to be the conditions most likely to bring about the most patient benefits. The project is always looking at which conditions it could treat in the future. To find out if your condition is covered, please speak to your hospital doctor or visit the Genomics England website which is updated regularly.
There are more than 8,000 rare diseases so unfortunately not all of these can be included in the project. However, over 135 rare diseases are currently included and this list is regularly updated as new diseases are added. Please download the list of rare diseases (opens as PDF). Patients who either cancer or rare disease can participate in the 100,000 genome project but family members with two, three or more can participate with their person who has either cancer or rare disease,but healthy people cannot participate in the project.
Why are only a few types of cancer included?
Recruitment of cancer patients to the 100,000 Genomes Project is just beginning. Patients who have very recently been diagnosed with cancer may be invited by their hospital doctor to take part. Currently we are recruiting patients with the following types of cancer: Breast, Colorectal, Ovarian, Prostate, Lung, Renal and Sarcoma. We have started with these cancers as they unfortunately affect a large number of people. It is likely that other cancers will be added in the future: see the Genomics England website for up-to-date information. It is important that cancer patients have NOT received any chemotherapy or radiotherapy treatment; for this reason we are only recruiting newly-diagnosed patients.
Your genome is all of the genetic information in your body’s instruction manual. It is written in a chemical code called DNA. All living things have a genome: plants, bacteria, viruses and animals. You can find out more about genomics including videos and infographics here (this link takes you to the Genomics England website).
We’re looking at 100,000 human genomes, not 100,000 patients. Every cancer patient who consents will give two genomes – one from their blood and one from their tumour. For rare disease patients we will take one genome from the patient’s blood and one from their family members. Please discuss your eligibility and details of the process with your hospital doctor.
At the moment we’re focusing on England. This means we unfortunately can’t recruit patients in Scotland, Wales or Northern Ireland. This may change in the future.
How Many Rare Disease and Cancers are there on the 100k Genome Project?
If you go on our website, you will see a list of both rare disease and cancer that is on the 100,000 Genome project right now but new ones are being added all the time, so the list keeps on growing.
If you work in ward or a place where you come in contact with patients with cancer or rare disease, you can tell them about it, so that they tell their Gps who will refer them to a geneticist or their consultant when they go to their appointment so that they can be referred to the 100,000 Genome project.
We are delighted to be able to offer the opportunity for patients to participate in this exciting project. At the moment, we are looking at certain rare diseases and cancers. If you or a family member has a rare disease or a recently diagnosed cancer, your hospital doctor will be happy to talk to you about whether you can get involved. We’re sorry but patients with cancer who have already started chemotherapy or radiotherapy unfortunately cannot take part. With the approval of your hospital doctor, children and adults of all ages may participate. Click here for more information.
While we can’t currently involve healthy patients, you may be able to take part if you have close relatives with inherited forms of either cancer or rare disease and they consent to take part. In these cases, we would seek two further genomes from close relatives. 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.
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 in 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.
We’re sorry but you will unfortunately be unable to join the 100,000 Genomes Project if you have already started your cancer treatment (chemotherapy or radiotherapy). This is because we need to know what your genome looks like BEFORE treatment, because the treatment itself may cause changes in the genome. Your hospital doctor will be happy to talk this through with you. Your NHS clinical care team may also be able to let you know about other projects you may wish to participate in.
Patients with rare diseases who are 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.
We are delighted to say that lots of patients are already involved in the 100,000 Genomes Project.In the East of England region, our Perspectives has several examples so you can find out what’s it’s been like for real patients.
This is not a problem at all. Please be reassured that you can withdraw from the Project at any time. This will not affect your NHS care in any way. Please ask your hospital doctor and your clinical care team about this.
Please be reassured that participation in the 100,000 Genomes Project will not affect your existing NHS care in any way.
Your hospital doctor and NHS clinical care team will be happy to talk through the process with you, so that you can decide whether or not you would like to get involved. If you do decide to take part, you will need to agree to:
- give samples of your blood;
- if you have suspected cancer, you will also need to donate a small piece of your cancer;
- allow information about your health, including scans and other test results to be sent to Genomics England to help to analyse your condition;
- allow your genome sequence data and your health information to be linked with your medical records; and
- agree to be contacted in the future by your hospital doctor, clinical care team and by Genomics England.
Please do not hesitate to speak to your hospital doctor if you have any questions or concerns.
No, the blood test should not hurt although some people may find it slightly uncomfortable.
As a patient, we appreciate your support for the 100,000 Genomes Project. The more people who come forward to participate, the greater the body of knowledge there will be to improve diagnoses and patient care in the future. If you do decide to get involved, your time commitment will be kept to a minimum. During your contact with the Genomic Medicine Centre we will ensure that all your questions are answered. You will only need to attend for one appointment during which a blood sample will be taken. The length of time will be dependent on how many family members attend together. Your hospital doctor and NHS clinical care team will be happy to discuss this with you further.
I’m interested in volunteering for genomic research, but I am not currently eligible for the 100,000 Genomes Project. Are there other studies that might be relevant?
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. If you have already signed up to the 100,000 Genomes Project, you have already made a huge difference, helping patients now and in the future. But there is something else you may wish to consider: joining the National Participant Panel for 100,000 Genomes.Or if you want to know how the project started just click on the link to the 100,000 Project.