American Association for Cancer Research Project Genomics Evidence Neoplasia Information Exchange: From Inception to First Data Release and Beyond-Lessons Learned and Member Institutions' Perspectives

Abstract

The American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE) is an international data-sharing consortium focused on enabling advances in precision oncology through the gathering and sharing of tumor genetic sequencing data linked with clinical data. The project's history, operational structure, lessons learned, and institutional perspectives on participation in the data-sharing consortium are reviewed. Individuals involved with the inception and execution of AACR Project GENIE from each member institution described their experiences and lessons learned. The consortium was conceived in January 2014 and publicly released its first data set in January 2017, which consisted of 18,804 samples from 18,324 patients contributed by the eight founding institutions. Commitment and contributions from many individuals at AACR and the member institutions were crucial to the consortium's success. These individuals filled leadership, project management, informatics, data curation, contracts, ethics, and security roles. Many lessons were learned during the first 3 years of the consortium, including on how to gather, harmonize, and share data; how to make decisions and foster collaboration; and how to set the stage for continued participation and expansion of the consortium. We hope that the lessons shared here will assist new GENIE members as well as others who embark on the journey of forming a genomic data-sharing consortium.

Fig 1.

American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE) timeline. AACR Project GENIE has developed rapidly from an initial concept in early 2014 to a formal business plan and approval by the AACR board of directors in January 2015. The consortium meets twice a year in January and July. Other notable dates are the November 2015 public launch, the October 2016 data freeze meeting, and the January 2017 first public release of data.

Fig 2.

Organization of American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE). The project is led by a steering committee that reports to the AACR board of directors and receives guidance from an external advisory board. Four subcommittees that make recommendations about various processes report to the steering committee, as does the AACR Project GENIE coordinating center. Project GENIE is executed in collaboration with two strategic partners: Sage Bionetworks and cBioPortal. CEO, chief executive officer; CTCRC, Clinical and Translational Cancer Research Committee; SPGA, Science Policy and Government Affairs.

Fig 3.

Technology and architecture, which shows how data flow in the consortium, including the location of data and the technologies used. GENIE, Genomics Evidence Neoplasia Information Exchange; NGS, next-generation sequencing; REDCap, Research Electronic Data Capture.

Fig 4.

Overview of the Genomics Evidence Neoplasia Information Exchange (GENIE) version 1.0.1 data set. (A) The top 12 mutated genes, (B) copy number alterations, (C) major cancer types, and (D) cancer subtypes from the first public data release are plotted.