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)

Abstract

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.