100,000 Genomes Project: Cancer Sequencing
Research type
Research Study
Full title
Genomics England 100,000 Genomes Project: Collection and Whole Genome Sequencing of Cancers and Cancer Patients
IRAS ID
155121
Contact name
Anna Schuh
Contact email
Research summary
Previous research has shown that many diseases are caused by changes (mutations) in the set of rules called the “genetic code” that define the function of all cells in our body. The material used to transmit this genetic code from cell to cell when the cell divides is called DNA. Recent ground breaking advances in the sequencing technology used to read this genetic code now enable us to sequence not just parts but the entire genome of a cell in a day. This means that we can begin to use this technology in order to better understand the underlying molecular mechanisms of disease and to improve and refine the diagnosis of a range of conditions from rare inherited diseases to cancer.
Genomics England was created by the Department of Health to help drive the implementation of this technology in the NHS. In the current project we collaborate with Genomics England to sequence the tumour samples and normal DNA pairs of 1000 patients with cancer. The main aim of this project is to identify and resolve all the technical issues arising from using this technology on samples collected by NHS diagnostics laboratories as part of routine patient care. Once, these issues are resolved, we will collect samples and associated medical information for sequencing, analysis, and deposition into the secure, anonymised research database of Genomics England's 100,000 Genomes Project. Where we discover information that is relevant for the management of a participant's current treatment - such as the presence of a mutation that means that a patient might respond better to a certain treatment or might suffer more side effects - this information will be fed back to the participant's treating clinician after careful validation of the results and only if the patient has agreed to receiving such feedback.REC name
South Central - Berkshire B Research Ethics Committee
REC reference
14/SC/1165
Date of REC Opinion
18 Aug 2014
REC opinion
Favourable Opinion