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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Fibke C, Giroux S, Caron A, Starks E, Parker JDK, Swanson L, Jouan L, Langlois S, Rouleau G, Rousseau F, Karsan A

Effect of preexamination conditions in a centralized-testing model of non-invasive prenatal screening.

Journal Article

Clin Chem Lab Med, 2021.

Abstract | Links:

Lapointe A, Royer Moreau N, Simonyan D, Rousseau F, Mallette V, Prefontaine-Racine F, Paquette C, Mallet M, St-Pierre A, Berthelot S

Identification of Predictors of Abnormal Calcium, Magnesium and Phosphorus Blood Levels in the Emergency Department: A Retrospective Cohort Study.

Journal Article

Open Access Emerg Med, 13 , 2021.

Abstract | Links:

Giroux S, Badeau M, Jeuken J, Caron A, Girouard J, Rousseau F

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.

Abstract | Links:

Soukkhaphone B, Lindsay C, Langlois S, Little J, Rousseau F, Reinharz D

Non-invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta-analysis of diagnostic test accuracy studies.

Journal Article

Mol Genet Genomic Med, 9 (5), 2021.

Abstract | Links:

Elkholi IE, Di Iorio M, Fahiminiya S, Arcand SL, Han H, Nogué C, Behl S, Hamel N, Giroux S, de Ladurantaye M, Aleynikova O, Gotlieb WH, Côté JF, Rousseau F, Tonin PN, Provencher D, MesMasson AM, Akbari MR, Rivera B, Foulkes WD

Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.

Journal Article

Sci Rep, 11 (1), 2021.

Abstract | Links:

Blais J, Giroux S, Caron A, Clement V, Rousseau F

Precision of Fetal DNA Fraction Estimation by Quantitative Polymerase Chain Reaction Quantification of a Differently Methylated Target in Noninvasive Prenatal Testing.

Journal Article

Lab Med, 51 (3), 2020.

Abstract | Links:

Poulin Herron A, Agbadje TT, Cote M, Djade CD, Roch G, Rousseau F, Legare F

Web-Based Training for Nurses on Shared Decision Making and Prenatal Screening for Down Syndrome: Protocol for a Randomized Controlled Trial.

Journal Article

JMIR Res Protoc, 9 (10), 2020.

Abstract | Links:

Nshimyumukiza L, Beaumont JA, Rousseau F, Reinharz D

Introducing cell-free DNA noninvasive testing in a Down syndrome public health screening program: a budget impact analysis.

Journal Article

Cost Eff Resour Alloc, 18 (1), 2020.

Abstract | Links:

Xie X, Wang M, Goh ES, Ungar WJ, Little J, Carroll JC, Okun N, Huang T, Rousseau F, Dougan SD, Tu HA, Higgins C, Holubowich C, Sikich N, Dhalla IA, Ng V

Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions in Average-Risk Pregnancies: A Cost-Effectiveness Analysis.

Journal Article

J Obstet Gynaecol Can, 42 (6), 2020.

Abstract | Links:

Holloway K, Miller FA, Rousseau F, Gutierrez A, Hogarth S

Responses to "Health Canada needs to act on laboratory-developed diagnostics".

Journal Article

CMAJ, 192 (10), 2020.

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Active projects

  • 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 2022-03-31

Recently finished projects

  • Acquisition de trousses d'isolation d'exosomes, from 2019-04-03 to 2020-03-31
  • Aide à la décision sur l'ajout de conditions génétiques dans un programme de dépistage néonatal, from 2019-04-01 to 2020-03-30
  • Blockbuster Diagnostics? The political economy of diagnostic innovation in comparative perspective, from 2016-07-01 to 2020-06-30
  • GE3LS Network in genomics and personalized health, from 2016-01-01 to 2019-12-31
  • TGPNI : protocole pour tester l'usage de tubes avec séparateur de gel au lieu des tubes Streck , from 2019-04-01 to 2020-03-31
Data provided by the Université Laval research projects registery