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RNA and DNA sequencing of a tumor to aid in clinical decision making and therapeutic choice

VANCOUVER, British Columbia—Researchers at the BC Cancer Agency Genome Sciences Centre have provided the first published example of genome-scale RNA and DNA sequencing of a tumor to aid in clinical decision making and therapeutic choice.

Published recently in the journal Genome Biology, the research focuses on a rare tumor of the tongue, which had progressed to metastatic disease. The rarity of this tumor meant that no established treatment options existed. Analysis of the complete genomic sequence allowed the comprehensive discovery of the genetic changes that had accumulated within the tumor. From this information, a personalized drug regime was initiated, which stabilized the aggressive cancer for several months.

“Utilizing a complete map of the molecular changes within a tumor in a clinical setting represents a world first in the application of this technology,” said Dr. Steven Jones, associate director of the Genome Sciences Centre and professor, Simon Fraser University. “It ushers in the era of personalized medicine in oncology, whereby therapies will be tailored precisely to the genetic make-up of the tumor. I anticipate that in the not too distant future nearly all patient tumors will be characterized in this way as a matter of course.”

While still in a preliminary stage, this approach is of particular relevance for rarer tumor types, where there are no established treatment protocols.

“This is an important advancement in cancer treatment. Genome sequencing has the ability to help guide clinical decisions offering personalized treatment strategies, and improve the quality of life of people living with cancer in B.C.,” said Dr. David Levy, president, BC Cancer Agency, an agency of the Provincial Health Services Authority.

The genetic sequencing enabled clinicians to differentiate the genes that were likely the driving factors specific to this tumor from those genes involved in normal cellular processes.

“Understanding the crucial primary and secondary genetic changes in this tumor provided treatment options that stabilized a rare and aggressive cancer. This genetic information helped us effectively target the disease in ways unavailable without this detailed knowledge,” said Dr. Joseph Connors, medical oncologist, BC Cancer Agency.

“The advancements in DNA sequencing and the significant decreases in the cost of sequencing are such that we can begin to contemplate clinical applications of the technology. A clear potential benefit to patients is the opportunity to consider new approaches to treatment,” said Dr. Marco Marra, director, BC Cancer Agency Genome Sciences Centre and professor, University of British Columbia.

The research initiative was generously supported by the BC Cancer Foundation. Support was also provided by; the Province of B.C., Michael Smith Foundation for Health Research, University of British Columbia, Simon Fraser University, Genome BC, Genome Canada, and the Canadian Cancer Society Research Institute.


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