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

每年有超过190，000名加拿大人被诊断患有癌症，约77，000人死于癌症。大多数类型的癌症都需要对肿瘤组织进行基因检测，以帮助诊断和选择治疗方法。新的方法正在开发中，可以测试血液来检测肿瘤中的遗传变化。血液检查可以避免手术，可能更便宜，并可能有助于跟踪病人肿瘤的大小。该项目的目的是创建一个自动化的单一基因测试，能够一次检测出许多癌症基因变化，并且可以用于肿瘤组织或血液。该测试将用于帮助诊断，也可能用于监测患者是否对治疗有反应，或者癌症是否复发。我们将与不列颠哥伦比亚省癌症机构的医生合作，快速、方便地报告测试结果，并确定这项新测试将如何改变癌症患者的管理。我们期待该检测通过我们的临床检测实验室在多个省份和研究小组中使用，并帮助改善癌症患者的管理。

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.