Begin typing your search above and press return to search. Press Esc to cancel.


The Results can be split into 3 main categories of findings;

  • Main findings. This is a finding which is relevant to the condition tested for and which could help provide an explanation, diagnosis or treatment for the patient.
  • Additional finding. This information is optional. It explains genetic changes which may cause an increased risk of certain genetic disease or condition.
  • Carrier Status. This information is optional. It describes changes to a gene which do not affect the individual, but could affect future children.

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. There will be several additonal test preformed on your sample to determine the genetic cause before you are informed of the 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 2018 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.