Department of Biosystems Science and Engineering of ETH Zurich in Basel, Switzerland.
Department of Dermatology at the University of Zurich Hospital in Zurich, Switzerland.
Brief Bioinform. 2019 May 21;20(3):778-788. doi: 10.1093/bib/bbx143.
Molecular profiling of tumor biopsies plays an increasingly important role not only in cancer research, but also in the clinical management of cancer patients. Multi-omics approaches hold the promise of improving diagnostics, prognostics and personalized treatment. To deliver on this promise of precision oncology, appropriate bioinformatics methods for managing, integrating and analyzing large and complex data are necessary. Here, we discuss the specific requirements of bioinformatics methods and software that arise in the setting of clinical oncology, owing to a stricter regulatory environment and the need for rapid, highly reproducible and robust procedures. We describe the workflow of a molecular tumor board and the specific bioinformatics support that it requires, from the primary analysis of raw molecular profiling data to the automatic generation of a clinical report and its delivery to decision-making clinical oncologists. Such workflows have to various degrees been implemented in many clinical trials, as well as in molecular tumor boards at specialized cancer centers and university hospitals worldwide. We review these and more recent efforts to include other high-dimensional multi-omics patient profiles into the tumor board, as well as the state of clinical decision support software to translate molecular findings into treatment recommendations.
肿瘤活检的分子分析不仅在癌症研究中起着越来越重要的作用,而且在癌症患者的临床管理中也起着重要作用。多组学方法有望改善诊断、预后和个性化治疗。为了实现精准肿瘤学的这一承诺,需要适当的生物信息学方法来管理、整合和分析大型和复杂的数据。在这里,我们讨论了由于更严格的监管环境和对快速、高度可重复和稳健程序的需求,临床肿瘤学环境中出现的生物信息学方法和软件的具体要求。我们描述了分子肿瘤委员会的工作流程以及它所需的特定生物信息学支持,从原始分子分析数据的初步分析到自动生成临床报告及其传递给决策临床肿瘤学家。这些工作流程已在许多临床试验中以及在世界各地的专业癌症中心和大学医院的分子肿瘤委员会中得到不同程度的实施。我们回顾了这些以及最近的努力,将其他高维多组学患者特征纳入肿瘤委员会,并介绍了将分子发现转化为治疗建议的临床决策支持软件的状态。