Project GENIE Goes Public

The American Association for Cancer Research's (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE) released almost 19,000 deidentified genomic records collected from patients with cancer who were treated at one of eight renowned medical centers. One of the largest pools of genomic information ever made publicly accessible, it comprises 59 types of cancer, including data from more than 3,000 patients with lung cancer, 2,000 patients with breast cancer, and 2,000 patients with colorectal cancer.

The data can be accessed via cBioPortal (www.aacr.org/genie/data) or downloaded from Sage Bionetworks (www.synapse.org/genie), which logged the data provenance, performed quality assurance, and merged and harmonized files from the various institutions.

Launched in late 2015, Project GENIE is an international effort to aggregate and link clinical-grade, next-generation sequencing data from patients' tumors with some limited clinical details, such as whether the sample was taken from a primary or metastatic lesion. By combining data from multiple institutions, researchers have access to larger cohorts of patients, providing the greater statistical power that would allow them to more quickly draw clinically meaningful conclusions and advance cancer research. For example, the data could be mined to validate gene signatures of drug response or prognosis; identify and expand populations of patients who might benefit from drugs approved by the FDA for other purposes; and discover new drug targets and biomarkers. Sufficient sample sizes will enable greater understanding of rare malignancies.

“While the research community has gained substantial knowledge about many common mutations that drive some types of cancers, we have a dearth of information on the rarer ones, whose significance we are slowly uncovering,” Charles Sawyers, MD, told Cancer Research Catalyst, the AACR's official blog (blog.aacr.org). A physician-scientist at Memorial Sloan Kettering Cancer Center (MSKCC) in New York, NY, Sawyers chairs the Project GENIE steering committee. “The dataset from GENIE will provide more robust numbers on how common such mutations are and how they are distributed across different histologies.”

Size is just one element that sets Project GENIE apart from other data-sharing initiatives. “There are already a lot of data publicly accessible from TCGA [The Cancer Genome Atlas], ICGC [International Cancer Genome Consortium], and a few other sources,” Sawyers said. “TCGA, for example, is a database that has comprehensive research-grade genomic data on the tumors together with some clinical data available at the time the specimens were submitted for sequencing. GENIE is different because the genomic and clinical data are obtained from patients who are part of routine oncology practice, and the database is ‘living,’ in that additional data on these patients can be collected over time.” The newly released data does not yet include information on how patients fared or their disease course, but these details will eventually be added for select groups of patients.

Project GENIE was pioneered by researchers at Dana-Farber Cancer Institute (Boston, MA); Gustave Roussy Cancer Center (Villejuif, France); The Center for Personalized Cancer Treatment (Utrecht, the Netherlands); Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins (Baltimore, MD); MSKCC; Princess Margaret Cancer Centre (Toronto, Canada); The University of Texas MD Anderson Cancer Center (Houston); and Vanderbilt-Ingram Cancer Center (Nashville, TN).

Eager to expand the Project GENIE registry, the consortium is accepting applications from other cancer centers that would like to participate. For more information, email info{at}aacrgenie.org. –Suzanne Rose