Dr. François Rousseau is a medical biochemist, subspecialized in human molecular genetics. He obtained a Bachelor of Medicine (1983), a Doctorate in Medicine (1984) and a Master’s in Molecular Ontogenetics (1987), all from Laval University. He completed a three-year postdoctoral training in human molecular genetics at Louis-Pasteur University in Strasbourg (1989-1991), where he contributed to the discovery of the fragile X syndrome gene, the most common cause of hereditary mental retardation. He is an expert member of several national and international committees on diagnostic tests, for the National Institute of Excellence in Health and Social Services (INESSS) where he chairs the scientific committee on medical biology analyses. He is the author of more than 130 scientific publications that have been cited nearly 10,000 times and is associate editor of the most important Textbook in Laboratory Medicine and Molecular Diagnostics. He chaired, for the maximum term of 6 years, the molecular diagnostic committee of the International Federation of Laboratory Medicine (IFCC) which counts over 80 countries. He has been a Fellow of the Canadian Academy of Health Sciences since 2014. Since 2005, he has also chaired the Department of Laboratory Medicine of the CHU- Laval University which counts over 110 laboratory physicians, 600 laboratory technologists and produces 11% of all the laboratory test results for the Province of Québec.
His research has focused on the prevalence of X-fragile syndrome gene mutations in the general population, and the evidence for the transfer of findings from human genetics and genomics to clinical medicine. He is the co-founder of the Health Economics Screening Simulation Laboratory, which assesses the cost-effectiveness and cost-utility of healthcare innovations to inform decision-makers in our healthcare system. He was the Principal Investigator for the CIHR-funded Research Consortium (30 researchers and 4 countries) funded by CIHR on Genetic Health Services Research (2005-2013), which focused on the validation and transfer of genetic and genomic innovations that lead to improved health outcomes and are cost-effective for the health system. He is also the leader of the Genome Canada funded PEGASUS project (2014-2017) on the true comparative effectiveness of genomic technologies for non-invasive prenatal screening. He has over 120 peer-reviewed publications and is a member of the Canadian Academy of Health Sciences. He has also been a Clinical Laboratory Accreditation Auditor for Accreditation Canada, since 2009. His research focuses on translating findings from the Human Genome Project into the healthcare system, as well as evidence-based laboratory medicine, health technology assessment of genomic technologies, and their added value to the healthcare system.
10, rue de l'Espinay
Canada G1L 3L5
- Un test moins invasif et plus sécuritaire que l’amniocentèse pour les femmes enceintes 2020-06-03
- Des marqueurs sur la touche 2019-04-05
- 27,4 M$ pour la recherche en génomique – Les professeurs François Rousseau et Jacques Simard font appel à des outils génomiques pour améliorer les soins de santé 2018-04-25
Web-Based Training for Nurses on Using a Decision Aid to Support Shared Decision-making About Prenatal Screening: Parallel Controlled TrialJournal Article
JMIR Nurs, 5 (1), 2022.
Effect of preexamination conditions in a centralized-testing model of non-invasive prenatal screeningJournal Article
Clin Chem Lab Med, 60 (2), 2022.
Identification of Predictors of Abnormal Calcium, Magnesium and Phosphorus Blood Levels in the Emergency Department: A Retrospective Cohort StudyJournal Article
Open Access Emerg Med, 13 , 2021.
Validation of a New Protocol to Collect and Isolate Plasma from Pregnant Women for Noninvasive Prenatal Testing (NIPT)Journal Article
J Appl Lab Med, 6 (3), 2021.
Non-invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta-analysis of diagnostic test accuracy studiesJournal Article
Mol Genet Genomic Med, 9 (5), 2021.
Investigating the causal role of MRE11A p.E506* in breast and ovarian cancerJournal Article
Sci Rep, 11 (1), 2021.
Precision of Fetal DNA Fraction Estimation by Quantitative Polymerase Chain Reaction Quantification of a Differently Methylated Target in Noninvasive Prenatal TestingJournal Article
Lab Med, 51 (3), 2020.
Web-Based Training for Nurses on Shared Decision Making and Prenatal Screening for Down Syndrome: Protocol for a Randomized Controlled TrialJournal Article
JMIR Res Protoc, 9 (10), 2020.
Introducing cell-free DNA noninvasive testing in a Down syndrome public health screening program: a budget impact analysisJournal Article
Cost Eff Resour Alloc, 18 (1), 2020.
Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions in Average-Risk Pregnancies: A Cost-Effectiveness AnalysisJournal Article
J Obstet Gynaecol Can, 42 (6), 2020.
- Analytical mobile application to support shared decision making for pregnant women, from 2017-09-01 to 2023-03-31
- Appui à la recherche en évaluation des technologies et des pratiques de pointe dans les CHU, from 2019-07-01 to 2024-06-30
- PEGASUS-2 - PErsonalized Genomics for prenatal Abnormalities Screening USing maternal blood : Towards First Tier Screening and Beyond, from 2018-04-01 to 2024-03-31
Recently finished projects
- Blockbuster Diagnostics? The political economy of diagnostic innovation in comparative perspective, from 2016-07-01 to 2020-06-30