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.

Hôpital Saint-François d'Assise
10, rue de l'Espinay
A2-222
Québec, Québec
Canada G1L 3L5
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Rousseau F, Lindsay C, Labelle Y, Giguere Y

Measuring the chronology of the translational process of molecular genetic discoveries.

Journal Article

Clin Chem Lab Med, 2019, ISSN: 1434-6621.

Abstract | Links:

Payne DA, Baluchova K, Russomando G, Ahmad-Nejad P, Mamotte C, Rousseau F, van Schaik RHN, Marriott K, Maekawa M, Chan KCA, IFCC Committee on Molecular Diagnostics

Toward harmonization of clinical molecular diagnostic reports: findings of an international survey.

Journal Article

Clin Chem Lab Med, 57 (1), pp. 78-88, 2018, ISSN: 1434-6621.

Abstract | Links:

Tor-Diez C, Passat N, Bloch I, Faisan S, Bednarek N, Rousseau F

An iterative multi-atlas patch-based approach for cortex segmentation from neonatal MRI.

Journal Article

Comput Med Imaging Graph, 70 , pp. 73-82, 2018, ISSN: 0895-6111.

Abstract | Links:

Blais J, Giroux S, Caron A, Clement V, Dionne-Laporte A, Jouan L, Gauthier J, MacLeod T, Moore R, Parker J, Swanson L, Zhao Y, Rouleau G, Karsan A, Langlois S, Rousseau F

Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values.

Journal Article

Clin Biochem, 59 , pp. 69-77, 2018, ISSN: 0009-9120.

Abstract | Links:

Nshimyumukiza L, Menon S, Hina H, Rousseau F, Reinharz D

Cell-free DNA noninvasive prenatal screening for aneuploidy versus conventional screening: A systematic review of economic evaluations.

Journal Article

Clin Genet, 94 (1), pp. 3-21, 2018, ISSN: 0009-9163.

Abstract | Links:

Agbadje TT, Menear M, Dugas M, Gagnon MP, Rahimi SA, Robitaille H, Giguere AMC, Rousseau F, Wilson BJ, Legare F

Pregnant women's views on how to promote the use of a decision aid for Down syndrome prenatal screening: a theory-informed qualitative study.

Journal Article

BMC Health Serv Res, 18 (1), pp. 434, 2018.

Abstract | Links:

Abbasgholizadeh Rahimi S, Lepine J, Croteau J, Robitaille H, Giguere AM, Wilson BJ, Rousseau F, Levesque I, Legare F

Psychosocial Factors of Health Professionals' Intention to Use a Decision Aid for Down Syndrome Screening: Cross-Sectional Quantitative Study.

Journal Article

J Med Internet Res, 20 (4), pp. e114, 2018.

Abstract | Links:

Nshimyumukiza L, Beaumont JA, Duplantie J, Langlois S, Little J, Audibert F, McCabe C, Gekas J, Giguere Y, Gagne C, Reinharz D, Rousseau F

Cell-Free DNA-Based Non-invasive Prenatal Screening for Common Aneuploidies in a Canadian Province: A Cost-Effectiveness Analysis.

Journal Article

J Obstet Gynaecol Can, 40 (1), pp. 48-60, 2018, ISSN: 1701-2163.

Abstract | Links:

Wilson BJ, Miller FA, Rousseau F

Controversy and debate on clinical genomics sequencing-paper 1: genomics is not exceptional: rigorous evaluations are necessary for clinical applications of genomic sequencing.

Journal Article

J Clin Epidemiol, 92 , pp. 4-6, 2017, ISSN: 0895-4356.

Abstract | Links:

Wilson BJ, Miller FA, Rousseau F

Controversy and debate on clinical genomics sequencing-paper 3: response to "clinical genome-wide sequencing: do not throw out the baby with the bathwater".

Journal Article

J Clin Epidemiol, 92 , pp. 11-12, 2017, ISSN: 0895-4356.

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Active projects

  • Analytical mobile application to support shared decision making for pregnant women, Subvention, Instituts de recherche en santé du Canada, Programme de subvention Catalyseur, from 2017-09-01 to 2019-08-31
  • Appui à la recherche en évaluation des technologies et des pratiques de pointe dans les CHU., Subvention, Fonds de recherche du Québec - Santé, Appui à la recherche en évaluation des technologies et des pratiques de pointe dans les CHU, from 2014-07-01 to 2019-06-30
  • Blockbuster Diagnostics? The political economy of diagnostic innovation in comparative perspective, Subvention, Instituts de recherche en santé du Canada, Subvention Projet, from 2016-07-01 to 2020-06-30
  • Centre hospitalier universitaire de Québec - Université Laval, Subvention, Centre hospitalier universitaire de Québec - Université Laval, Centres de recherche affiliés, from 2017-01-01 to 2099-12-31
  • Clinical outcomes and predictors of PITuitary disorders in patients with moderate and severe Traumatic Brain Injury: the PIT-TBI prospective multicenter pilot cohort study., Subvention, Instituts de recherche en santé du Canada, Subvention de fonctionnement, from 2014-04-01 to 2019-03-31
  • Evaluation des technologies et des pratiques de pointe en médecine de laboratoire, Subvention, Fonds de recherche du Québec - Santé, Chaire de recherche en évaluation des technologies et des pratiques de pointe (FRSQ-MSSS-CHU), from 2014-07-01 to 2019-06-30
  • GE3LS Network in genomics and personalized health, Subvention, Génome Canada, from 2016-01-01 to 2019-12-31
  • PEGASUS-2 - PErsonalized Genomics for prenatal Abnormalities Screening USing maternal blood : Towards First Tier Screening and Beyond, Partenariat, Génome Canada, Projets de recherche appliquée à grande échelle, from 2018-04-01 to 2022-03-31
  • SR du Fonds de recherche de l’HSFA - Maintien de la biobanque « Grossesses en santé »; programme de formation complémentaire en recherche en biochimie médicale, Subvention, Fondation de l'Université Laval, from 2018-12-01 to 2022-11-30

Recently finished projects

  • Acceptability test of the developed decision aid in the prenatal screening context, Subvention, CIUSSS - CN - Centre de recherche sur les soins et les services de première ligne de l'ULaval, from 2017-07-01 to 2018-12-31
  • PEGASUS : Personalized Genomics for prenatal aneuploidy screening using maternal blood, Subvention, Génome Canada, Projets de recherche appliquée à grande échelle, from 2013-04-01 to 2018-03-31
  • PEGASUS-2 - PErsonalized Genomics for prenatal Abnormalities Screening USing maternal blood : Towards First Tier Screening and Beyon, Partenariat, Génome Canada, Projets de recherche appliquée à grande échelle, from 2017-08-09 to 2018-03-31
  • Soutien à la recherche du Fonds de recherche de l’Hôpital Saint-François d’Assise - Complément de financement au Projet PEGASUS Numéro SIRUL : 102531, Subvention, Fondation de l'Université Laval, from 2017-06-01 to 2018-05-31
Data provided by the Université Laval research projects registery