By Diagnostics World Staff
January 11, 2017 In an article posted on the American Association for Cancer Research’s blog, Charles Sawyers detailed recent developments the AACR Project Genomics Evidence Neoplasia Information Exchange (GENIE). GENIE has released one of the largest fully public cancer genomic data sets to date.
Sawyers, the AACR Project GENIE Steering Committee chairperson, spoke of the implications of such a milestone, as well as where the AACR plans to go next with Project GENIE.
“This is the first project I’m aware of where eight cancer centers pooled their data in a way such that the data become an open source for the cancer research community,” Sawyers said. “In addition, the consortium was set up so that longitudinal outcome data can be obtained going forward.”
There are currently 8 cancer research institutes involved in the project’s consortium: Dana-Farber Cancer Institute in Boston; Gustave Roussy Cancer Campus in Paris; The Netherlands Cancer Institute in Amsterdam; Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University in Baltimore, Maryland; Memorial Sloan Kettering Cancer Center in New York; Princess Margaret Cancer Centre in Toronto; University of Texas MD Anderson Cancer Center in Houston, Texas; and Vanderbilt-Ingram Cancer Center in Nashville, Tennessee.
GENIE is a “living” database, Sawyers wrote. Genomic and clinical data are collected from patients involved in routine oncology practice, and additional data can be collected from these patients over time. “GENIE is… a real-world view of the breadth of frequency of different mutations across large number of cancers,” Sawyers commented in the article.
Sawyers also commented on significant developments released by the AACR on January 5, such as the first release of genomic data from close to 19,000 patients whose tumor samples were sequenced before November 2015. The release also includes genomic data on 59 major cancer types, including data from nearly 3,000 patients with lung cancer and more than 2,000 patients each with breast cancer and colorectal cancer.
Those in the cancer research community are going to benefit the most from this newly released data. GENIE contains information on mutations in rarer forms of cancer, including mutation frequency and how they are distributed across different histologies. Unfortunately, Sawyers stresses that this new insight does not yet tell cancer researchers whether or not a given rare mutation has a good or bad prognosis. Sawyers also went on to say that AACR hopes to complete two mutation-specific projects before the AACR Annual Meeting.
Privacy is a major concern when discussing these sorts of projects, and, according to Sawyers, in order to preserve the patient’s privacy the only information that is accessible from the dataset is the information on genomic mutation. “All users of GENIE data have to agree to a set of principles, including not trying to identify a patient,” said Sawyers. “This is an honor system that has worked well with many other non-cancer databases involving genomics and we have adopted it.”
The biggest change Sawyers sees coming with AACR Project GENIE is that the information gathered could lead to practice guidelines. The project could also be a resource for pharmaceutical companies pursuing drug approval from the FDA. Sawyers says that “a well-designed disease registry might serve a control group, which could avoid the time and expense involved with having to conduct a randomized trial.”
Sawyers is optimistic about the future of the GENIE Project; he hopes the recent passage of the 21st Century Cures Act will lead to federal support. Sawyers also says that GENIE is prepared to double in size from its initial 8 participating institutes. The future could in fact yield results that the GENIE is wishing for.