AACR Releases Large Public Cancer Gene Data Set

Veronica Hackethal, MD

January 10, 2017

The American Association for Cancer Research (AACR) has publicly released one of the largest cancer genomics data sets to date.

The data set houses high-quality genetic sequencing data on 19,000 patients and covers 59 cancer types. It also includes limited clinical data and has information on almost 3000 patients with lung cancer, over 2000 with breast cancer, and over 2000 with colorectal cancer.

It contains next-generation sequencing data collected over time, in real-world, clinical settings. The data have also been deidentified, making it compliant with the Health Insurance Portability and Accountability Act.

The data set can be found on the AACR website or at SAGE Bionetworks.

The data set was released as part of the AACR's Genomics Evidence Neoplasia Information Exchange (GENIE) data-sharing project. So far, eight cancer care centers in the United States, Canada, and Europe are participating in GENIE and have contributed to the pooled information in the data set.

A major goal of releasing the data publicly is to fulfill unmet needs in oncology, spur new research, and increase the pace of discovering new ways of fighting cancer, according to GENIE steering committee chairperson, Charles Sawyers, MD. Dr Sawyers is a Howard Hughes Medical Institute investigator. He is also affiliated with the Memorial Sloan Kettering Cancer Center in New York City.

The data set may benefit the cancer community by helping to answer questions about whether having a certain mutation affects prognosis or can lead to a change in therapy, Dr Sawyers said in an interview. It may also identify patients who are eligible for clinical trials; expand the patient population for currently approved drugs; and pinpoint new drug targets, biomarkers, or gene assays. The data set may also be used to help insurance companies decide whether to cover sequencing, he said.

However, he added, "I think the most exciting potential for the GENIE data set is for patients with rare mutations."

Pooling data may improve statistical power to provide information about the natural history of rare mutations in certain cancers and whether these patients respond to different therapies.

The GENIE project is evaluating two relatively rare mutations in breast cancer, for which existing drugs — though still experimental — have been shown to be active in a few patients. Researchers hope to present the results later this year.

Clinical development of such drugs, though, is challenging because of the large number of patients needed for randomized trials. GENIE could have an impact by helping to identify patients with the mutation who can serve as the historical control group for drug approval, Dr Sawyer explained.

"The Food and Drug Administration and other regulators are actively encouraging drug developers to leverage this kind of data," he said, "The idea is to use high-quality disease registry data to supplement drug approval. We are hopeful that GENIE can provide a mechanism for generating that kind of data."

The GENIE project can also provide infrastructure and guidance about best practices for conducting such research, he added. One caveat: The public data set does not contain information about what happens to these patients. For that, researchers will have to sift through medical records.

Still, he emphasized: "The GENIE project demonstrates how cancer centers can come together in a very positive way. I hope it will break down the impression that I've heard in data-sharing conversations, about how institutions don't work together, because they do. And when they do, great things can happen."

To expand the registry, the GENIE project is currently accepting applications for new members.

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