Taking part in the 100,000 Genomes Project

This project is for NHS patients who have certain rare diseases, plus their families, or who have cancer. Patients will be invited to take part by their hospital doctor.

At the moment only people under the care of the NHS in England can join. Those in Scotland, Wales and Northern Ireland will be able to take part soon. Taking part does not affect routine NHS care.

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Nominating a disease or cancer type

Father pushing disabled son on handicap swingWe ask that patients, members of the public, lay members of patient groups or charities work with scientists or clinicians expert in the relevant disease to nominate a condition to include in the 100,000 Genomes Project.

This is because of the technical/scientific nature of some of the questions our Scientific Advisory Committee need to consider to know whether the condition is suitable. For example, we require evidence that condition has the sort of genetic cause that genome sequencing could currently identify.

If you think that your condition or tumour type should be included, first contact a relevant clinician or scientist. You could ask your hospital doctor. The disease nomination form must be completed by a clinician at an NHS Genomic Medicine Centre, or a researcher in one of our partnerships.
The Genomics England Science Team would be very happy to work with you and the relevant experts to develop the application.

What does taking part involve?

When a patient with a rare disease is invited to take part, two of their close relatives are often asked as well. This will help doctors analyse the genome. Find out more about taking part.

Why do people take part?

Some people taking part will get a diagnosis for their condition for the first time, but many will not. For some patients, a particular treatment may be suggested based on their results. In most cases this won’t happen.  The main benefits are likely to be for other patients in the future. Find out more about results and feedback.

How do I get referred?

If you think you may be eligible, you can ask your doctor to refer you to your nearest NHS Genomic Medicine Centre. Or, you can contact your local NHS Genomic Medicine Centre directly to find out more.

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Rare disease

Which rare diseases are included?

Over 190 rare diseases are currently included in the Project. People invited to take part will be thought to have one of these conditions. People who are invited to take part may have a provisional diagnosis, but not a molecular diagnosis. A molecular diagnosis is based on a genetic test result rather than on signs or symptoms.
This list is regularly updated: Download the list of rare diseases

Cancer

Patients who have recently been diagnosed may be invited by their hospital doctor to take part.  Patients who have had previous treatment, including chemotherapy or radiotherapy may also be eligible. Currently we are recruiting patients with cancers specified by our eligibility criteria. In the future, we hope other cancers will be included too.

For some cancer patients, a particular treatment or trial may be suggested based on their results, but in most cases this won’t happen.  The main benefits are likely to be for other patients in the future. Read more about the results and feedback that participants can get.


Frequently asked questions about getting involved

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 the 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 prevent people joining the 100,000 Genomes Project. However, if you are taking part in another genetic sequencing project, please talk to your doctor. In some cases, you may need to wait for your results to come back from a sequencing study you are already in, before joining the 100,000 Genomes Project. Please tell your clinician if you are currently involved in any other research studies.

The infectious disease strand of this Project is being led by Public Health England.

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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 – link opens in new window). 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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