AACR Project GENIE®

AACR Project GENIE® is an open-source, international, pancancer registry of real-world data assembled through data sharing between 19 leading international cancer centers. The registry leverages ongoing clinical sequencing efforts at participating cancer centers by pooling their data to serve as an evidence base for the entire cancer community. The consortium and its activities are driven by openness, transparency, and inclusion to ensure that the project output remains accessible to the global cancer research community and ultimately benefits patients.

In its seventh year, AACR Project GENIE® took several bold steps toward delivering on the promise of precision medicine:

• In June, GENIE shared its twelfth public data release, which increased the size of the registry to more than 137,000 patients. With this latest release, genomic and baseline clinical data from more than 153,000 tumors are accessible through the efforts of the project’s strategic and technical partners, Sage Bionetworks and cBioPortal.
• The AACR is a pioneer in fostering the science of cancer health disparities, and data from AACR Project GENIE® have already powered studies on the genetic determinants of cancer risk and clinical outcomes and explored their impact on these disparities. In 2022, as part of the AACR’s commitment to advancing diversity, equity, and inclusion in cancer research, Project GENIE launched its first open call for new participating academic sites since 2017. This call for participants specifically targeted institutions that regularly treat and sequence patients from underrepresented and underserved backgrounds. With the selection of up to five new participating institutions, AACR Project GENIE® will further expand the diversity of its patient data and further advance the bold vision of health equity.
• In 2019, AACR Project GENIE® launched the Biopharma Collaborative (BPC), a five-year collaboration with a coalition of ten biopharmaceutical companies with the goal of obtaining clinical and genomic data from an estimated 50,000 de-identified patients treated at GENIE participating institutions. By the end of 2021, the BPC had collected detailed clinical data from a combined 7,500 cases of non–small cell lung, colorectal, breast, pancreatic, prostate, and bladder cancers. In 2022, the first two BPC datasets—containing data from more than 1,800 NSCLC patients and nearly 1,500 colorectal cancer patients—were made available for public use.
• Neurofibromatosis is a genetic disorder of the nervous system that causes tumors to grow on nerve tissue throughout the body. Because fewer than 200,000 people in the United States live with neurofibromatosis, research on the disease is not well-funded and there is no known cure. However, one of the benefits of a publicly available cancer registry like AACR Project GENIE is that real-world genomic information is collected at scale from across a wide range of cancer centers—enabling researchers to access robust datasets even for rare cancers.

This fall, the GENIE dataset was put to a unique use in a global genomic data hackathon organized by the Children’s Tumor Foundation. The event—titled Hack4NF—provided researchers, data analysts, genomic experts, computational biologists, statisticians, and health care startups with access to de-identified patient data from Project GENIE and two other registries and challenged the participants to develop solutions to the challenges faced by neurofibromatosis researchers. AACR Project GENIE® data powered multiple projects during the hackathon, including one of the prize-winning ideas. The winning team treated the mutated genes in a tumor sample like a sentence and used Natural Language Processing to create a model to predict a tumor’s cancer type. The model could be used to identify neurofibromatosis tumor subtypes and to explore their relationship with the cancers that most typically arise from neurofibromatosis.