Frequently asked questions about getting involved

What made you choose these particular rare diseases?

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 best opportunity to better understand the disease. We expect more rare diseases to be included throughout the lifetime of the Project.

Why aren’t you including healthy people, surely you need to compare sick people with healthy ones?

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.

Can we join if we are in the DDD study, or other research projects?

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.

Are you sequencing 100,000 patients?

No. This is a common misconception but it’s 100,000 human genomes, not patients. Every cancer patient will contribute two genomes for comparison (one from a healthy cell, one from their cancer). Three genomes will come with every rare disease participant for comparison (one from the affected person and two more from close blood relatives). Assuming half of the genomes will come from cancer and half from rare disease, the figures work out roughly like this:

Cancer = 50,000 genomes – 25,000 patients

Rare disease = 50,000 genomes – 15,000 patients and 35,000 healthy relatives

So about 75,000 people in total, 40,000 of which will be patients.

Who will have access to my data?

The 100,000 Genomes Project links your genome sequence with your medical records and information about your condition. Researchers will only have access to this data if they are approved by an Advisory Committee to Genomics England. All the information is held securely, and will only be used for scientific and healthcare purposes. To get the most value for healthcare from the information you have donated, it needs to be accessible worldwide, in a form which protects your identity. Genomics England will put the names of all the companies or organisations that have been approved to access data and for what purpose, on the 100,000 Genomes Project website. Access to any of the data held by Genomics England for marketing or insurance purposes will not be allowed.

How will you keep my information secure and confidential?

Your data is stored in a controlled access database in the UK, and its security level meets national and international data standards. Your name and other personal details will be available to your clinical team and the Project team, who need these to analyse your individual results and provide a report to discuss with you. Your name and personal details will not be included in the data which is provided to researchers. Researchers looking at your data will be tracked by Genomics England to check that they are following the laws and ethical guidelines that apply to biomedical research.

Will this affect my insurance?

Any medical treatment you have may need to be disclosed to an insurer that asks about it. However, under an agreement between the Department of Health and the Association of British Insurers, the results of your whole genome sequencing carried out in the 100,000 Genomes Project are not disclosable to insurers. You don’t have to tell an insurer that you are part of the 100,000 Genomes Project, and they won’t have access to the results.

I am 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 – 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.