François Rousseau

Affiliation : Université Laval
Organization : Centre de recherche du CHU de Québec
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About François Rousseau

  • FQR-S/MSSS/CHUQ award recipient for Evidence-Based Laboratory Medicine 
  • Professor, Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval
  • Medical Director, Laboratoires médicaux de la Capitale-Nationale et des Îles de la Madeleine 
  • Researcher, SPPOS Area, CRCHU de Québec – Université Laval

Dr. François Rousseau is a medical biochemist subspecialized in human molecular genetics. He obtained a BSc in medicine (1983), a MD in medicine (1984) and a MSc in Molecular Ontogeny (1987), all from Université Laval. He completed a three-year post-doctoral fellowship in human molecular genetics at Université Louis-Pasteur in Strasbourg (1989-1991), where he contributed to the discovery of the gene for fragile-X syndrome, the most common form of inherited mental impairment. Dr. Rousseau is an expert member of many national and international committees on diagnostic testing, including the Institut national d’excellence en santé et services sociaux (INESSS), where he chairs the scientific committee on bio-medical testing. He has authored over 130 scientific papers, which have been cited more than 10,000 times, and is associate editor for the most commonly used textbook on laboratory medicine and molecular diagnostics. For the maximum term of 6 years, Dr. Rousseau chaired the committee on molecular diagnostics of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC), which brings together over 80 countries. He has been a Fellow of the Canadian Academy of Health Sciences since 2014. Since 2005, he has led the Department of Laboratory Medicine of the CHU de Québec-Université Laval, which includes 110 doctors, 600 medical technologists and performs 11 percent of all laboratory tests in Québec. 


His research work has focused on the prevalence in the general population of genetic mutations involved in fragile-X syndrome and on the evidence needed to bring human genetic and genomic discoveries from the lab to the clinic. He co-founded the Laboratoire de simulation économique de dépistage, an economic simulation lab to evaluate the cost-effectiveness and cost-utility of innovations prior to informing health policymakers. From 2005 to 2013, he was the designated principal investigator of the CIHR- funded Canadian APOGEE-Net/CanGeneTest, a research consortium (30 investigators, 4 countries) on health services research in genetics that focuses on transferring clinically useful and cost-effective genetic innovations to the health care system.
He also spearheaded the PEGASUS project funded by Genome Canada and Génome Québec (2014-2017: 30 investigators, 5 countries, 8 Canadian universities and 4 foreign universities) on the comparative effectiveness of genomic-based technologies for non-invasive prenatal screening. Since 2009, he has served as an Accreditation Canada clinical laboratory surveyor.  His research focuses on the translation of discoveries from the Human Genome Project into the health care system and on evidence-based laboratory medicine and its value for the health system. 

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