跨部门合作,为开放科学、精准肿瘤学和患者服务:AACR项目GENIE(基因组证据肿瘤学信息交换)生物制药协作(BPC)概述

A. Acebedo , P.L. Bedard , S. Brown , E. Ceca , M. Fiandalo , H. Fuchs , X. Guo , J.N. Hoppe , K.L. Kehl , R. Kundra , J.A. Lavery , M.L. LeNoue-Newton , E. Lepisto , B. Mastrogiacomo , C.M. Micheel , C. Nayan , A. Newcomb , C. Nichols , K.S. Panageas , B. Piening , C. Yu
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引用次数: 0

摘要

美国癌症研究协会(AACR)的GENIE项目(基因组学证据肿瘤学信息交换)生物制药合作项目(BPC)是一个多阶段的、竞争前的合作项目,由10家生物制药公司和部分参与gene项目的学术机构组成,重点关注GENIE注册表中一部分患者的详细临床注释。该队列集中于10个实体肿瘤,每个队列都整合了人口统计学、诊断、基因组学和治疗数据,以及纵向的、现实世界的患者结果。数据是按照结构化框架收集的,以确保与其他数据模型的互操作性和前向兼容性。每个队列都经过一系列严格的质量控制和保证协议,以确保数据在公开发布之前跨多个机构的一致性、准确性和可靠性。对BPC数据的初步分析已经产生了有价值的见解,包括治疗诱导的耐药突变和与转移解剖部位相关的基因组驱动因素的验证。此外,实际反应终点与公布的试验结果比较有利。集中管理和共享知识库有助于在执行复杂的多机构数据收集工作时集成不同的功能团队。未来的方向是自动化临床注释过程的重要部分,以大规模收集临床数据。这些努力将增加BPC数据的深度和粒度,并扩大总体队列规模和所代表癌症类型的范围。
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Collaborating across sectors in service of open science, precision oncology, and patients: an overview of the AACR Project GENIE (Genomics Evidence Neoplasia Information Exchange) Biopharma Collaborative (BPC)
The American Association for Cancer Research (AACR) Project GENIE (Genomics Evidence Neoplasia Information Exchange) Biopharma Collaborative (BPC) is a multi-phase, pre-competitive collaboration between 10 biopharmaceutical companies and select GENIE-participating academic institutions, focused on detailed clinical annotations of a subset of patients within the GENIE Registry. The cohorts focus on 10 solid tumors, and each integrates demographic, diagnosis, genomic, and treatment data with longitudinal, real-world patient outcomes. Data are collected following a structured framework to ensure interoperability and forward compatibility with other data models. Each cohort undergoes a series of rigorous quality control and assurance protocols which ensures consistency, accuracy, and reliability of the data across multiple institutions before public release of the data. Initial analyses of the BPC data have yielded valuable insights, including the validation of treatment-induced resistance mutations and genomic drivers associated with anatomic sites of metastasis. Additionally, the real-world response endpoints compare favorably to published trial results. Central management and a shared knowledgebase help integrate diverse functional teams in the execution of a complex, multi-institutional data collection effort. Future directions aim to automate significant portions of the clinical annotation process to collect clinical data at scale. These efforts will increase the depth and granularity of the BPC data, as well as expand the overall cohort size and range of cancer types represented.
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