Genomic info to help cancer docs personalize treatment

International group expands work to link EHRs and genome data, says Tom Hudson.

The International Cancer Genome Consortium is entering a new phase in its research, as the organization is beginning to link genomics data to clinical information, with the hope of giving physicians far more precise and personalized treatment data.

The consortium began its work in 2008, when it started mapping thousands of different cancer genomes, representing 50 different types of cancer, in anticipation of a new era of precision medicine. About 15,000 cancers have been mapped by the International Cancer Genome Consortium (ICGC), with the goal of creating a catalog of mutations across the globe and making it available to researchers. ICGC expects to surpass 25,000 mappings by 2018.

Its newest phase expects to deliver results to physicians for helping them deliver personalized treatment by 2025.

The consortium already has helped discover cancer mutations. A new subset group of ICGC, called ICGCmed, now is working to collect clinical information that will enable physicians to determine which drugs and other treatments will elicit better responses in patients, as well as predict survival rates and side effects.

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“Genome sequencing has revealed a subset of cancer-associated mutations called ‘driver’ mutations that are responsible for many of the properties that transform normal cells into malignant ones,” according to an ICGC white paper, available here. Better understanding these drivers will help researchers understand how mutations interact with a person’s genomic makeup, which will inform the interventions that will bring the best outcomes.

This research is important for chief information officers, chief medical information officers and other healthcare informatics professionals to follow, says Tom Hudson, MD, president and scientific director at the Ontario Institute for Cancer Research, and a founding member of ICGC.

“We have developed standards for analyzing sequence information being transmitted to clinical labs, and informatics software is being developed for the clinical environment,” he adds. Further, researchers have discovered new pathways in cancer, which are other mechanisms that can cause the disease.

Now, Hudson says, the challenge is to get enough clinical information to assess clinical relevance. “We need to identify what is a responder and what is not a responder, which tells use in what cases patients will or will not respond to treatment.”

The amount of information collected thus far is impressive, taking up one petabyte of data, which is one quadrillion bytes, Hudson says.

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