About Patients referred to the 100 000 Genomes project

About patients referred with a rare disease

• Participants were referred into the 100,000 Genomes Project by a member of the clinical team responsible for their care
• Patients were eligible to join the project if diagnosed with a specific rare disease or condition. A full list of the eligible rare conditions can be found on the Genomics England website.
• Most patients were required to have undergone some genetic testing by their hospital specialist and NHS genetic laboratory service prior to taking part. To be able to take part these test results must have failed to provide a molecular diagnosis for their condition although the patient may have been given a diagnosis based on their clinical presentation.
• Where possible, other family members with the same condition and/or the patients biological parents were also invited to take part. Looking at the results from family groups helps genetic experts understand the data provided by Whole Genome Sequencing from an individual's DNA.
• Patients and their families were provided with an information sheet  and seen in special clinics or as part of their routine care to discuss the test. If agreeing to the test, participants were asked to complete a consent form and provide a blood or saliva sample
• Finding a genetic or molecular diagnosis can help suggest a particular treatment or help understand what having the condition might mean for other family members. However, only some people will get a diagnosis first time round as we are still learning about the human genome. For many people taking part, the main benefits are likely to be for other patients in the future.

About patients referred with cancer or suspected cancer

• Patients were referred into the 100,000 Genomes Project  by a member of the clinical team responsible for their care
• Patients were eligible to join the project if diagnosed with a specific type of cancer. A full list of eligible cancers  can be found on the Genomics England website .
• Before being able to take part, patients were provided with an information sheet and seen either as part of their routine care or contacted by a member of the team working with the Genomic Medicine Centres to discuss the test. If agreeing to take part in the Project, participants were asked to complete a consent form.
• For patients with cancer or suspected cancer, patients were required to donate two samples for Whole Genome Sequencing. A blood sample (germline) to look at how the body normally works and a piece of resected/surgical tissue or biopsy sample (tumour) to understand how the tumour or suspected tumour is different.
• Not all patients who donated samples were able to have their DNA looked at, as some samples may not have the right number and type of cells for DNA to be sequenced, or if the suspected tumour was confirmed not to be cancerous.
• Understanding the changes in the genome of a person and their cancer can help suggest a particular treatment or help understand what having this cancer type might mean for other family members. However, results from this project are unlikely to affect current treatment, as patients taking part will already have undergone an appropriate treatment plan by the time a result is issued.  We are still learning about the human genome. For many people taking part, the main benefits are likely to be for other patients in the future.