What happens when people take part in the 100,000 Genomes Project

Patients with certain rare diseases, their close relatives, and patients with cancer are being invited to take part in the Project. They will be invited by their hospital doctor at one of 13 NHS Genomic Medicine Centres in England. Only these centres are recruiting patients at the moment.

Giving consent

Before taking part, information, risks and benefits of participating are discussed between a potential participant and their healthcare team. Potential participants are given information to read about the Project. People are free to decide if they want to take part or not.

If someone would like to take part, they sign a consent form. Participants can withdraw from the Project at any time. You can view or download the participant information and consent forms here.

Our section on consent gives more details of the issues that potential participants are asked to consider.

Donating blood or tissue

If someone signs up they donate a small sample of blood, or sometimes saliva (spit). About 20ml, or 4 teaspoons, of blood is taken.

Cancer patients also donate a small piece of their tumour. Find out more about what happens to the blood, saliva and tumour samples.

Note that if a cancer patient joins the project together with their family, because they have a rare inherited type of cancer, they will not be asked to donate a piece of their tumour. Tumour samples will only be collected from cancer patients who join with a very recent diagnosis.

DNA is extracted from the samples for whole genome sequencing. Each participant has their genome sequenced and analysed. Read more about genome sequencing and analysis.

Donating data

Participants also agree to share information about their health with the Project. This includes scans and other test results. It also includes health records from birth.

This information helps doctors and researchers understand a person’s condition and the effects of treatments. Find out more about data and data access.

Results

We hope that many rare disease participants in the Project will get a diagnosis for the first time. In some cases, doctors may be able to recommend specific treatment based on a person’s genome sequence.

At the moment it takes many months for results come back, but in the future this is likely to happen more quickly.

In many cases we won’t find anything, or we won’t find anything in time to help the participant. But people who take part in the Project will be helping others in the future with the same condition.

Participants can also choose find out about other serious, but potentially treatable, genetic conditions they may have.

Find out more about the results and feedback that participants get.

Research

When participants sign up, they agree that researchers can look at their genome and health data. All their health data is de-identified. This means that a person’s name, date of birth and other identifying details are removed before researchers see the data.

Researchers will use the data to understand more about the causes of disease and how to treat it.

Find out more about data, security and privacy in the 100,000 Genomes Project.

Infographic showing the process of taking part in the 100,000 Genomes Project.

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