How will I benefit

Genomics England, with the consent of participants and the support of the public, is creating a lasting legacy for patients, the NHS and the UK economy through the sequencing of 100,000 genomes: the 100,000 Genomes Project.

My genetic diagnosis

A major aim of the project is to identify the  cause of rare diseases for those who do not have a genetic diagnosis.

If the 100,000 Genomes Project finds the cause of your disease your specialist doctor will be told and he or she will let you know the result. Before feeding this result back to you there will be several additional tests done on your sample to confirm that the genetic diagnosis is correct.

Additional genetic information

Participants have the choice to receive additional genetic information about themselves from a limited list of genes on offer that do not relate to the rare disease in the family. You will be contacted by your specialist doctor if you are found to have a genetic change in one of these genes and will be referred to the appropriate specialist team to discuss this in more detail once you receive a result.

When will I get results?

In the early stages of the project results will take over a year to come through. By the end of the project in 2017 the aim is to achieve a three month turn around times from consent to result.

For many people no result will be available as the science may need further development in order to understand your disease. For those where no genetic diagnosis is easily found you will be contributing to ongoing research projects that aim to understand your disease better.