Researchers at the BC Cancer Agency Genome Sciences Centre have provided the first published example of genome-scale RNA and DNA sequencing of a tumour to aid in clinical decision making and therapeutic choice. The research focuses on a rare tumour of the tongue, which had progressed to metastatic disease. The rarity of this tumour 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 tumour. From this information, a personalized drug regime was initiated, which stabilised the aggressive cancer for several months.

Published August 9th in the journal Genome Biology, the research focuses on a rare tumour of the tongue, which had progressed to metastatic disease. The rarity of this tumour 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 tumour. From this information, a personalized drug regime was initiated, which stabilized the aggressive cancer for several months.

"Utilising a complete map of the molecular changes within a tumour in a clinical setting represents a world first in the application of this technology," says 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 tumour. I anticipate that in the not too distant future nearly all patient tumours 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 tumour 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.," says 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 tumour from those genes involved in normal cellular processes.

"Understanding the crucial primary and secondary genetic changes in this tumour provided treatment options that stabilised a rare and aggressive cancer. This genetic information helped us effectively target the disease in ways unavailable without this detailed knowledge," says 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," says Dr. Marco Marra, director, BC Cancer Agency Genome Sciences Centre and professor, University of British Columbia.

Source: BC Cancer Agency