Information for rare disease participants

Thank you to everyone taking part in the 100,000 Genomes Project.

We are very grateful for your participation. It is helping to increase understanding of the genetic causes of rare diseases and cancer.

Progress

Over 20,000 whole genomes have now been sequenced. We are analysing the genome data together with health data, to help us find the cause of disease. The analysis is complex and takes many months. Find out more about how we analyse a genome.

As soon as your data has been processed we will send the results to your NHS clinical team. They will contact you when they have confirmed our findings.

Results are now beginning to be returned to people who took part in the early part of the Project. But for some, it will still be a year or more before results are returned. For people joining now, it is likely to be a year or more before you hear anything. Results will be returned to people throughout 2017 and 2018. Find out more about results.

The 100,000 Genomes Project is at the cutting edge of science.  No-one has ever attempted whole genome sequencing at this scale before as part of everyday care in hospitals. Thank you for your patience while we set up and test all the systems.

 Useful information

Genome Analysis

Find out how its done.

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Results

Latest updates for participants.

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Genome analysis and results

Frequently Asked Questions

What happens if I move house / area while I’m waiting for my results?

Genomics England will always return results to the healthcare professional who asked you to join the Project. If you have moved since joining, that healthcare professional may either arrange to pass the results on to your new specialist, or arrange for you to go back see them again for the results.

Where can I find out the status of my results?

Neither Genomics England nor the hospital where you took part will be able tell you exactly when your results will be back. This is because we have to focus on the work we are doing to return everyone’s results as quickly as possible. We have started returning results, but these need to be checked by NHS labs before they go back to patients. Over time this will become quicker, but things often take longer at the start of a big project like this because everything has to be set up and tested. Results will be returned to people throughout 2017 and 2018.

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