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AACR Project GENIE: 100,000 Cases and Beyond
Trevor J Pugh1,2,3, Jonathan L Bell4, Jeff P Bruce1
1Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Cancer Discovery
|July 12, 2022
Summary
The American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE) registry now has data from over 110,000 tumors. This resource aids in predicting trial enrollment, identifying rare tumor drivers, and guiding genomic analysis for various cancers.
Area of Science:
- Oncology
- Genomics
- Bioinformatics
Background:
- The American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE) is an international, pan-cancer registry established in late 2015.
- The GENIE 9.1-public release includes data from over 110,000 tumors across 19 cancer centers in multiple countries.
Purpose of the Study:
- To demonstrate the utility of harmonized, real-world genomic data for clinical and research applications.
- To showcase the prediction of genome-guided clinical trial enrollment.
- To identify driver alterations in rare tumors and cancers lacking actionable mutations.
Main Methods:
- Utilizing a centralized data resource for harmonized, real-world tumor genomic data.
- Leveraging comprehensive genomic analysis and patient phenotyping.
- Expanding data infrastructure to include new data types like cell-free DNA sequencing.
Main Results:
- Successfully predicted enrollment on genome-guided trials.
- Discovered driver alterations in rare tumors.
- Identified cancer types that could benefit from comprehensive genomic analysis.
Conclusions:
- AACR Project GENIE is a significant global resource for precision medicine, informing clinical decision-making.
- The registry facilitates international collaboration among cancer researchers.
- The extensible data infrastructure supports ongoing expansion and biopharmaceutical collaborations.
