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
A2-222
Québec, Québec
Canada G1L 3L5
Latest news
- 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
- Bernard, NathalieEmployeeHôpital Saint-François d'Assise+1 418-525-4444, extension 53796+1 418-525-4195Nathalie.Bernard@crchudequebec.ulaval.ca
10, rue de l'Espinay
D0-738
Québec, Québec
Canada G1L 3L5 - Caron, AndréEmployeeHôpital Saint-François d'Assise+1 418-525-4444, extension 52521+1 418-525-4195Andre.Caron@crchudequebec.ulaval.ca
10, rue de l'Espinay
D1-735
Québec, Québec
Canada G1L 3L5 - Daryabari, Seyedeh SaidehDoctoral studentHôpital Saint-François d'Assise+1 418-525-4444, extension 52529seyedeh-saideh.daryabari@crchudequebec.ulaval.ca
10 Rue de l'Espinay
D1-735
Québec, QC
Canada G1L 3L5 - Gagnon Beaulieu, KaryneEmployeeCHUL+4 815-254-444, extension 46079karyne.gagnon-beaulieu@crchudequebec.ulaval.ca
2705, boulevard Laurier
TR-27
Québec, QC
Canada G1V 4G2 - Giroux, SylvieEmployeeHôpital Saint-François d'Assise+1 418-525-4444, extension 52529+1 418-525-4219Sylvie.Giroux@crchudequebec.ulaval.ca
10, rue de l'Espinay
D1-735C, D1-735A
Québec, Québec
Canada G1L 3L5 - Labelle, YvesEmployeeHôpital Saint-François d'Assise+1 418-525-4444, extension 53789+1 418-525-4195yves.labelle@bcx.ulaval.cayves.labelle@crchudequebec.ulaval.ca
10, rue de l'Espinay
D0-717D
Québec, Québec
Canada G1L 3L5 - Lindsay, CarmenEmployee+1 418-525-4444, extension 53805+1 418-525-4372Carmen.Lindsay@crchudequebec.ulaval.ca
- Soukkhaphone, BounhomeDoctoral studentbounhome.soukkhaphone.1@ulaval.ca
Precision of Fetal DNA Fraction Estimation by Quantitative Polymerase Chain Reaction Quantification of a Differently Methylated Target in Noninvasive Prenatal Testing
Journal ArticleLab Med, 51 (3), 2020.
Web-Based Training for Nurses on Shared Decision Making and Prenatal Screening for Down Syndrome: Protocol for a Randomized Controlled Trial
Journal ArticleJMIR Res Protoc, 9 (10), 2020.
Introducing cell-free DNA noninvasive testing in a Down syndrome public health screening program: a budget impact analysis
Journal ArticleCost 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 Analysis
Journal ArticleJ Obstet Gynaecol Can, 42 (6), 2020.
Responses to "Health Canada needs to act on laboratory-developed diagnostics"
Journal ArticleCMAJ, 192 (10), 2020.
Development of Reference Materials for Noninvasive Prenatal Aneuploidy Testing by Massively Parallel Sequencing: A Proof-of-Concept Study
Journal ArticleJ Appl Lab Med, 4 (1), 2019.
An Analytical Mobile App for Shared Decision Making About Prenatal Screening: Protocol for a Mixed Methods Study
Journal ArticleJMIR Res Protoc, 8 (10), 2019.
Measuring the chronology of the translational process of molecular genetic discoveries
Journal ArticleClin Chem Lab Med, 57 (8), 2019.
Health Canada needs to act on laboratory-developed diagnostics
Journal ArticleCMAJ, 191 (39), 2019.
Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study
Journal ArticleEur J Hum Genet, 27 (11), 2019.
Active projects
- Analytical mobile application to support shared decision making for pregnant women, from 2017-09-01 to 2024-03-31
- 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