Taking Part

The 100,000 Genomes Project was set up for NHS patients who have certain rare diseases and their families and for NHS patients with some kinds of cancer. Patients were  invited to take part by their hospital doctor or healthcare professional. Taking part does not affect routine NHS care.

Please note the 100,000 Genomes Project enrollment has now closed to all patients.

Rare diseases

Patients with over 135 genetic rare diseases were eligible to join the 100,000 Genomes project. A list of the eligible rare diseases can be found on the Genomics England website .

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 was not required.

When a patient with a rare disease was invited to take part in the 100,000 Genomes Project, two of their close relatives were 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.

Cancer

Involvement of cancer patients in the 100,000 Genomes Project expanded through the time the project was open both locally and nationally. The project enables genetics experts to analysis the genome from both the patient and from cancer tissue. Patients had the opportunity to join the project only if they have very recently received a diagnosis of cancer, usually before treatment had started.

At the West of England Genomic Medicine Centre patients with 10 different types of cancer were consented to take part from hospitals across our region.  We worked with clinical teams to establish pathways to collect blood and cancer tissue samples from patients and provide opportunities for individuals to consent to be involved.

Nationally the 100,000 Genomes Project has recruited patients with a broad range of cancer types and set up pathways to include collection of biopsy samples and pilot rapid turn around times for results which will assist in making genetic testing part of mainstream clinical practice for certain groups of cancer patient in the future.