Development of an automated end-to-end next generation sequencing assay to detect all classes of genetic variant in a single diagnostic test

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Each year more than 190,000 Canadians are diagnosed with cancer and about 77,000 die from the disease. Genetic testingof tumor tissue is required for most types of cancer to help make a diagnosis and to choose treatments. New methods arenow being developed that can test blood to detect genetic changes in the tumor. Blood tests would avoid surgery, may becheaper and might be useful for following the size of a patients tumor. The aim of this project is to create an automatedsingle genetic test that will be able to detect many cancer genetic changes at once, and can be used either on the tumortissue or on blood. The test will be used to help make a diagnosis, and also possibly to monitor whether a patient isresponding to treatment, or whether the cancer has returned. We will work with physicians at the BC Cancer Agency tomake the reporting of the test results quick and convenient, and determine how this new test would change the managementof cancer patients. We expect the test will be used in several provinces and research groups through our clinical testinglaboratory, and help improve the management of cancer patients.