The first analysis of nearly 19,000 de-identified genomic records from the American Association for Cancer Research (AACR) international data-sharing initiative known as AACR Project Genomics Evidence Neoplasia Information Exchange (GENIE) was recently published in Cancer Discovery.
In addition to the genomic analysis, the report includes examples of how the AACR Project GENIE genomic data can be used to facilitate clinical research, including:
“There has been a lot of discussion about the potential of data-sharing initiatives to accelerate the pace of progress against cancer,” said Charles L. Sawyers, MD, FAACR, AACR Project GENIE Steering Committee Chairperson and an author on the paper. “This paper shows that AACR Project GENIE has made the first steps to delivering on this promise.”
“We are particularly excited by the clinical actionability analysis,” continued Dr. Sawyers, who is also Chairperson of the Human Oncology and Pathogenesis Program at Memorial Sloan Kettering Cancer Center and a Howard Hughes Medical Institute investigator. “Prior studies looking at how often tumor genome sequencing identifies a clinically actionable mutation have yielded variable results, leading some to question its clinical utility. The huge number of samples in our study and the high rate of clinical actionability give us confidence that tumor genome sequencing can have an important role in clinical care.”
AACR Project GENIE is a multiphase, multiyear, international data-sharing project that was launched by the AACR in partnership with eight global academic leaders in clinical cancer genomics in November 2015. Just over a year later, in January 2017, the AACR Project GENIE consortium made public nearly 19,000 de-identified genomic records collected from patients who were treated at the eight international institutions participating in the first phase of the project.
“This paper describes the AACR Project GENIE consortium and provides a landscape overview of the first public GENIE data release,” said Ethan Cerami, PhD, Director of the Knowledge Systems Group and Lead Scientist in the Department of Biostatistics and Computational Biology at the Dana-Farber Cancer Institute and an author on the paper. “By showing that we can share data across multiple institutions in the United States, Canada, and Europe to obtain results none of the institutions could have obtained alone, we have put AACR Project GENIE at the forefront of data-sharing efforts to accelerate scientific discovery and ultimately improve patient care.”
The paper provides detailed information about the data collected at the different institutions, highlighting that even though the types of sequencing and size of the gene panels used at the individual institutions differ and are evolving over time, the data can be compared across institutions. The high-level analysis of the nearly 19,000 de-identified genomic records made public by the consortium also shows many similarities with the data in The Cancer Genome Atlas (TCGA). The paper also highlights several differences with TCGA data, which the authors speculate are a result of a greater proportion of the AACR Project GENIE records coming from patients with recurrent or relapsing disease.
Participating Institutions
The eight institutions who participated in AACR Project GENIE phase I are:
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