François Rousseau

Dr. François Rousseau is a medical biochemist subspecialized in human molecular genetics. He obtained a bachelor’s degree in medicine (1983), a doctorate in medicine (1984), and a master’s degree in molecular ontogenetics (1987), all from Laval University. He completed three years of postdoctoral training in human molecular genetics at Louis Pasteur University in Strasbourg (1989–1991), where he contributed to the discovery of the gene for fragile X syndrome, a cause of the most common hereditary mental retardation.

He has been an expert member of several national and international committees on diagnostic tests, notably for the National Institute of Excellence in Care and Social Services (INESSS), where he chaired the scientific committee for medical biology analysis from its creation until 2022. He is the author of more than 160 scientific publications, generating more than 16,000 citations. According to Google Scholar, he has an h-index of 60 and an i10 index of 148. According to ResearchGate, he is in the top 1% of registered researchers. During his career, he has accumulated more than $40 million in scholarships and nominal grants as a principal investigator and participated as a co-investigator in projects totaling more than $24 million. He was an associate editor of the most important textbook on laboratory medicine and molecular diagnostics. He chaired, for a maximum term of 6 years, the molecular diagnostics committee of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC), bringing together more than 80 countries. He has been a Fellow of the Canadian Academy of Health Sciences since 2014. From 2005 to 2020, he directed the department of laboratory medicine at the CHU de Québec-Université Laval, which has more than 110 doctors, 600 medical technologists, and produces 11% of all laboratory tests in the province of Quebec.

His research focused on the prevalence of mutations in the Fragile X syndrome gene in the general population, followed by strengthening the evidence base for the clinical translation of genetic and genomic discoveries towards the healthcare system.
He is a co-founder of the Economic Screening Simulation Laboratory, which evaluates the cost-effectiveness and cost-utility of innovations to inform decision-makers in our health system. He was the designated principal investigator of the CIHR-funded APOGEE-Net/CanGeneTest research consortium (30 researchers and 4 countries) on health services research in genetics (2005–2013), focused on validation and transfer of clinically useful and cost-effective genetic and genomic innovations for the health system.

He was also the designer and leader of the PÉGASE (2014–2018) and PÉGASE 2 (2018–2024) projects funded by Genome Canada on the comparative effectiveness of genomic technologies for non-invasive prenatal screening, involving 30 researchers, 5 countries, 8 Canadian universities, and 4 universities abroad. He was also a clinical laboratory accreditation visitor for Accreditation Canada from 2009 to 2020.
His research focuses on translating findings from the Human Genome Project into the healthcare system, as well as evidence-based laboratory medicine, the evaluation of genomic technologies, and their value to the health system.