Grant: Project Grant

Cancer predisposition syndromes (CPSs) are genetic conditions that increase the risk of developing one or more cancers over a lifetime. There are more than 50 CPSs known to cause cancer in children. When a CPS is diagnosed, doctors can start tumor surveillance strategies and sometimes change treatments for their patients to improve their quality of life and chances of survival. As CPSs are difficult to recognize by doctors, we created, tested and launched an eHealth app called MIPOGG (McGill Interactive Pediatric OncoGenetic Guidelines), which is currently used in 76 countries. MIPOGG uses clinical information from patients to recommend for or against a referral to genetics based on the child's likelihood of having a CPS. It is basically a genetic referral triage tool. Five years after the launch of the app, our team has identified areas for improvement. In particular, we aim to make MIPOGG more accessible, reliable and practical for doctors and patients around the world. To do this, we must also understand how doctors are using the app (clinical utility). Therefore, this proposal aims to build and validate CPS prediction models for 10 common cancer types in children. In other words, the app would identify the CPS type that is most likely to be present in the child. We will then adapt the prediction models to make sure that they are also applicable and reliable in low and middle income countries. Throughout this work, we will continuously apply ethical and legal frameworks and concepts to the phases of model building, validation, adaptation, and clinical use. All children and families should have an equal chance at being identified with a CPS, irrespective of where they live and by whom they are treated. This is an effort to provide access to a practical genetic resource for CPS screening and detection in young people with cancer. This proposal involves team members with expertise in global health, health services research, ethics, law, statistics and modeling.