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Updated: Jan 4, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
OCTANE (Ontario-wide Cancer Targeted Nucleic Acid Evaluation): a platform for intraprovincial, national, and
E R Malone1, R R Saleh1, C Yu1
1Toronto, ON-Laboratory Medicine Program, University Health Network (Kamel-Reid, Stockley); Department of Laboratory Medicine and Pathobiology, University of Toronto (Kamel-Reid, Stockley); Cancer Genomics Program, Princess Margaret Cancer Centre (Ahmed, Bedard, Kamel-Reid, Pugh, Siu, Stockley, Yu); Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre (Bedard, Malone, Saleh, Siu); Department of Medicine, University of Toronto (Bedard); Department of Medical Biophysics, University of Toronto (Kamel-Reid, Pugh, Siu); Princess Margaret Research Institute, Princess Margaret Cancer Centre (Pugh); Bioinformatics and High Performance Computing Core, University Health Network (Virtanen); Ontario Institute for Cancer Research (Torchia, Bartlett).
Abstract:
Cancer is a genetic disease resulting from germline or somatic genetic aberrations. Rapid progress in the field of genomics in recent years is allowing for increased characterization and understanding of the various forms of the disease. The Ontario-wide Cancer Targeted Nucleic Acid Evaluation (octane) clinical trial, open at cancer centres across Ontario, aims to increase access to genomic sequencing of tumours and to facilitate the collection of clinical data related to enrolled patients and their clinical outcomes. The study is designed to assess the clinical utility of next-generation sequencing (ngs) in cancer patient care, including enhancement of treatment options available to patients. A core aim of the study is to encourage collaboration between cancer hospitals within Ontario while also increasing international collaboration in terms of sharing the newly generated data. The single-payer provincial health care system in Ontario provides a unique opportunity to develop a province-wide registry of ngs testing and a repository of genomically characterized, clinically annotated samples. It also provides an important opportunity to use province-wide real-world data to evaluate outcomes and the cost of ngs for patients with advanced cancer. The octane study is attempting to translate knowledge to help deliver precision oncology in a Canadian environment. In this article, we discuss the background to the study and its implementation, current status, and future directions.
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