AACR Project GENIE: 100,000 Cases and Beyond

Author:

Pugh Trevor J.123ORCID,Bell Jonathan L.4ORCID,Bruce Jeff P.1ORCID,Doherty Gary J.56ORCID,Galvin Matthew78ORCID,Green Michelle F.4ORCID,Hunter-Zinck Haley9ORCID,Kumari Priti10ORCID,Lenoue-Newton Michele L.1112ORCID,Li Marilyn M.1314ORCID,Lindsay James10ORCID,Mazor Tali10ORCID,Ovalle Andrea10ORCID,Sammut Stephen-John56ORCID,Schultz Nikolaus15ORCID,Yu Thomas V.9ORCID,Sweeney Shawn M.16ORCID,Bernard Brady78ORCID,

Affiliation:

1. 1Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.

2. 2Ontario Institute for Cancer Research, Toronto, Ontario, Canada.

3. 3University of Toronto, Toronto, Ontario, Canada.

4. 4Duke University Medical Center, Durham, North Carolina.

5. 5Cancer Research United Kingdom (CRUK) Cambridge Centre, Cambridge, United Kingdom.

6. 6Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.

7. 7Earle A. Chiles Research Institute, Portland, Oregon.

8. 8Providence Cancer Institute, Portland, Oregon.

9. 9Sage Bionetworks, Seattle, Washington.

10. 10Dana-Farber Cancer Institute, Boston, Massachusetts.

11. 11Vanderbilt University Medical Center, Nashville, Tennessee.

12. 12Vanderbilt-Ingram Cancer Center, Nashville, Tennessee.

13. 13The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

14. 14University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania.

15. 15Memorial Sloan Kettering Cancer Center, New York, New York.

16. 16American Association for Cancer Research, Philadelphia, Pennsylvania.

Abstract

Abstract The American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE) is an international pan-cancer registry with the goal to inform cancer research and clinical care worldwide. Founded in late 2015, the milestone GENIE 9.1-public release contains data from >110,000 tumors from >100,000 people treated at 19 cancer centers from the United States, Canada, the United Kingdom, France, the Netherlands, and Spain. Here, we demonstrate the use of these real-world data, harmonized through a centralized data resource, to accurately predict enrollment on genome-guided trials, discover driver alterations in rare tumors, and identify cancer types without actionable mutations that could benefit from comprehensive genomic analysis. The extensible data infrastructure and governance framework support additional deep patient phenotyping through biopharmaceutical collaborations and expansion to include new data types such as cell-free DNA sequencing. AACR Project GENIE continues to serve a global precision medicine knowledge base of increasing impact to inform clinical decision-making and bring together cancer researchers internationally. Significance: AACR Project GENIE has now accrued data from >110,000 tumors, placing it among the largest repository of publicly available, clinically annotated genomic data in the world. GENIE has emerged as a powerful resource to evaluate genome-guided clinical trial design, uncover drivers of cancer subtypes, and inform real-world use of genomic data. This article is highlighted in the In This Issue feature, p. 2007

Publisher

American Association for Cancer Research (AACR)

Subject

Oncology

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