Patients with more than 190 genetic rare diseases were eligible to join the 100,000 Genomes project until rare disease recruitment ended in September 2018. Download the list of rare diseases. This list was regularly updated as new diseases were added. People invited to take part will be thought to have one of these conditions.

Patients had the opportunity to join the 100,000 Genomes Project if they had already undergone some genetic testing by their hospital specialist through the NHS genetic laboratory service, but had not received a specific genetic diagnosis. For some disorders, prior genetic testing is not required.

Genomics is now moving into routine NHS care, with a small number of rare disease conditions eligible for genomic sequencing. If you think you may be eligible, you can ask your hospital specialist doctor to refer you to your nearest NHS Genomic Medicine Centre. If you think you are eligible based on the information provided and you currently live in the West Midlands region you can also contact us directly at to find out more.

When a patient with a rare disease is invited to take part in the 100,000 Genomes Project, two of their close relatives are invited to join as well. Analysing test results from family groups helps genetics experts analyses the results from the patients with the rare disease and increases the chance that a genetic diagnosis can be made. Relatives of a patient with a rare disease cannot volunteer for the 100,000 Genomes Project themselves.

Some people taking part in the 100,000 Genomes Project will get a diagnosis for their disease for the first time and for some of these, a particular treatment may be suggested based on their genetics results.

However, its important to highlight that for many patients taking part, a specific genetic diagnosis may not be achieved and treatments may not be altered. The main benefits in taking part are likely to be for other patients in the future. Read more about the results and feedback that participants can get at the Genomics England website.