Taking Part

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

Rare diseases

Patients with over 135 genetic rare diseases are currently eligible to join the 100,000 Genomes project. A list of the eligible rare diseases can be found on the Genomics England website and is regularly updated.

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

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 of England region you can also contact us directly at UBH-TR.WEGMC@nhs.net 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 this 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.

Currently at the West of England Genomic Medicine Centre we are planning to open access to the 100,000 Genomes Project to patients with inherited cardiac disorders from May 2016 and other rare disease shortly afterwards.

Cancer

Involvement of cancer patients in the 100,000 Genomes Project is just beginning nationally. The project enables genetics experts to analyses the genome from both the patient and from cancer tissue. Patients will have the opportunity to join the project only if they have very recently received a diagnosis of cancer, usually before treatment has started.  Patients who have had already chemotherapy, radiotherapy or surgery cannot take part. This is because these treatments prevent genetics experts analysing the genome in the cancer tissue.

Currently at the West of England Genomic Medicine Centre we are planning to open access to the 100,000 Genomes Project to patients with breast cancer from June 2016 and will then commence with other disease areas as quickly as possible.

Nationally the 100,000 Genomes Project is recruiting patients with the following cancer types:

  • Breast
  • Colorectal
  • Ovarian
  • Prostate
  • Lung
  • Renal
  • Sarcoma

Patients with other cancer types may be eligible for the 100,000 Genomes Project in the future.

If you would like to know more about the 100,000 Genomes Project, please call the patient information line on 0800 389 8221, open from 9:00am to 5:00pm (Monday to Friday).

Please note the information line can’t give individual medical advice or advice about eligibility.