Why an integrated network of genomic and clinical information on cancer is essential

By Doug Lowy, M.D., Acting Director, National Cancer Institute, and Warren Kibbe, Ph.D., Director of the NCI Center for Biomedical Informatics and Information Technology

Several years ago, the Institute of Medicine issued a report calling for a knowledge network of disease to advance precision medicine rapidly in the 21st century. Indeed, there is no disease more poised and ready to integrate genomics and clinical information into a unified network than cancer. That is why we are so pleased that today the Vice President announced the launch of the Genomic Data Commons (GDC) as part of the Cancer Moonshot. And he did it in front of thousands of oncologists at the annual meeting of the American Society of Clinical Oncology in Chicago because their role in treating patients, using an advanced, knowledge-based system, will be key to making the goals of the Moonshot and the Precision Medicine Initiative a reality.

The GDC is a foundational element in building a knowledge network for cancer. But we want to emphasize that the GDC is the result of a very complex undertaking that has involved years of trial, and sometimes error, to reach fruition. We needed to find a unified, workable data sharing platform that would encompass aspects of basic scientific discovery, molecular characterization of the disease, and clinical discovery, from decades of trials and research studies conducted by cancer researchers throughout the world, into one network that can be used by researchers everywhere.

As leaders at the National Cancer Institute, we are very fortunate to be able to draw on the foresight of those who established The Cancer Genome Atlas (TCGA) and many other integral programs and consortia so that the GDC would have strong datasets from the outset to build on. Indeed, since its inception just over a decade ago, TCGA — a project we undertook in conjunction with a sister NIH institute, the National Human Genome Research Institute — has generated maps of key genomic changes in 33 types of cancer from more than 11,000 patients. The GDC is designed to be a platform for sharing genomic and clinical datasets. The real value of datasets like TCGA has become clear: TCGA data, which have been publicly available and widely used by the research community, have contributed to more than one thousand publications in the cancer literature.

The GDC will provide a powerful tool for discovery using cancer genomic and clinical data. It is very important to remember that each sample, each case, begins with the person with cancer, who, through his or her own selflessness, allows the information on his or her disease and its progression, and hopefully its conquest, to be shared by researchers hoping to tease out as many commonalities as they can to find ways to successfully treat the more than 200 types of cancers that we know of today. While the GDC may have “data” at its center, it is really the person with cancer who will be at the center of our success and, in turn, the success of the Cancer Moonshot.

Once a genomic and clinical dataset has been submitted to the GDC, it’s then available to cancer investigators to identify what genes or other factors are driving a cancer, to determine indicators of a positive therapeutic pathway, and then to design clinical trials involving patients with similar genetic abnormalities so that there can be proof of benefit for any proposed therapy.

As close NCI colleague, Louis M. Staudt, M.D., Ph.D., who is one of the researchers leading this effort, so eloquently put it, “The datasets will lead to a much deeper understanding of which therapies are most effective for individual cancer patients, and with each new addition the GDC will evolve into a smarter, more comprehensive knowledge system that will foster important discoveries in cancer research and increase the success of cancer treatment for patients.”

Smarter, faster, bigger may sound reductive for such a complex system, but that’s truly what we are aiming for, and why, as the Vice President noted, the GDC is an integral part of the Cancer Moonshot.