Integrating genomics into health: a new Genome Québec research project

Génome-Québec, October 2022. Go to the website

Advances in precision medicine have greatly reduced cancer-associated mortality in recent years. Improvements in molecular diagnostics have been central to these advances, facilitating the identification of different disease subtypes in order to stratify patient risk and deliver specialized therapies. However, current diagnostic protocols are complex, fragmented and require the interpretation of pathologists as well as significant time and resources. This project aims to evaluate the accuracy and clinical utility of a new diagnostic test that combines nanogenomic technology with artificial intelligence. This molecular test enables the identification of leukemia sub-types in a few hours by detecting discriminative genomic signatures, thus providing a simpler and more economical solution to current diagnostic workflows. In addition, the precision of our test would help identify which patients could benefit from specialized therapies and start treatments more quickly in order to improve patient outcomes.