Research Axis
Metabolic and Cardiovascular Health Axis
Research Theme
Genetic and metabolic diseases in Quebec: diagnosis, mechanisms and interventions
Address
CHUSJ
Phone
514 345-4931 #4727
Fax
514 345-4766
In my future research, I am particularly interested in the use of genetic technologies and services real-life settings, in their impact on health outcomes and resources, as well as in the broader health policy, legal, and ethical implications of their use. In recent years, genetic research had produced huge amounts of knowledge about associations between genetic variants and disease. As new genetic tests and services become available for clinical practice, it is important to evaluate their clinical utility. My multidisciplinary training enables me to examine these questions using different methods, both quantitative and qualitative.
I plan to pursue the work I started during my doctoral dissertation, on the clinical use of the genetic test for Factor V Leiden, a genetic risk factor for venous thrombo-embolism and fetal loss. I plan to study the use of other genetic tests commonly used in clinical practice, particularly in the investigation of children with developmental delay and congenital deafness.
I also have a continued interest in genetic diseases with particularities in the French Canadian population, as well as the implications these particularities can have for the use of available genetic tests in the context of population screening strategies.