Informatics to enable routine personalized cancer therapy

项目负责人/主要研究者（Bernard，Elmer维克托） 摘要 个体患者的基因组分析现在是负担得起的，并且针对特定分子的疗法 畸变正在临床试验中进行测试。然而，即使是顶尖学术机构的高度专业化的医生， 中心没有装备将医学上可用的来源中可用的基因组信息应用于临床- 对个别患者的决策。我们的中心假设是我们可以发展信息学 支持个性化癌症治疗的工具，作为“标准护理”，而不是“一次性”例外。我们将： 1)实施用于将分子数据处理成可操作概况的生物信息学管道，2）创建和 使用自动化处理维护常见基因组畸变的治疗意义的数据库 3）开发工具来总结和提出针对患者的建议， 临床医生这些工具将以现有技术和公开数据来源为基础。一旦测试， 我们将通过适当的开源许可证提供这些工具。 PHS 398/2590（Rev.06/09）

Program Director/Principal Investigator (Bernstam, Elmer Victor) Abstract Genomic analysis of individual patients is now affordable and therapies targeted to specific molecular aberrations are being tested in clinical trials. However, even highly-specialized physicians at leading academic centers are not equipped to apply genomic information available in publically available sources to clinical- decision-making concerning individual patients. Our central hypothesis is that we can develop informatics tools to support personalized cancer treatment as "standard of care" rather than "one off" exceptions. We will: 1) implement a bioinformatics pipeline for processing molecular data into actionable profiles, 2) create and maintain a database of therapeutic implications of common genomic aberrations using automated processing of publically-available sources and 3) develop tools to summarize and present patient-specific advice to clinicians. These tools will be based on existing technologies and publicly available data sources. Once tested, we will make these tools available via appropriate open source license. PHS 398/2590 (Rev. 06/09) Page Continuation Format Page