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
+1 418-525-4195+1 418-525-4470
francois.rousseau@fmed.ul...

Latest news

155 entries « ‹ 11 of 16 › »

Miller FA, Wilson B, Grimshaw J, Battista R, Blancquaert I, Carroll JC, Rousseau F, Slater B

The helix in the labyrinth: do we need genetic health services and policy research?

Journal Article

Healthc Policy, 4 (1), 2008.

Abstract | Links:

Novak DJ, Chen LQ, Ghadirian P, Hamel N, Zhang P, Rossiny V, Cardinal G, Robidoux A, Tonin PN, Rousseau F, Narod SA, Foulkes WD

Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women

Journal Article

BMC Cancer, 8 , 2008.

Abstract | Links:

Sinotte M, Rousseau F, Ayotte P, Dewailly E, Diorio C, Giguere Y, Berube S, Brisson J

Vitamin D receptor polymorphisms (FokI, BsmI) and breast cancer risk: association replication in two case-control studies within French Canadian population

Journal Article

Endocr Relat Cancer, 15 (4), 2008.

Abstract | Links:

St-Jacques S, Grenier S, Charland M, Forest JC, Rousseau F, Legare F

Decisional needs assessment regarding Down syndrome prenatal testing: a systematic review of the perceptions of women, their partners and health professionals

Journal Article

Prenat Diagn, 28 (13), 2008.

Abstract | Links:

van Meurs JB, Trikalinos TA, Ralston SH, Balcells S, Brandi ML, Brixen K, Kiel DP, Langdahl BL, Lips P, Ljunggren O, Lorenc R, Obermayer-Pietsch B, Ohlsson C, Pettersson U, Reid DM, Rousseau F, Scollen S, Van Hul W, Agueda L, Akesson K, Benevolenskaya LI, Ferrari SL, Hallmans G, Hofman A, Husted LB, Kruk M, Kaptoge S, Karasik D, Karlsson MK, Lorentzon M, Masi L, McGuigan FE, Mellstrom D, Mosekilde L, Nogues X, Pols HA, Reeve J, Renner W, Rivadeneira F, van Schoor NM, Weber K, Ioannidis JP, Uitterlinden AG,

Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis

Journal Article

JAMA, 299 (11), 2008.

Abstract | Links:

Zhang S, Phelan CM, Zhang P, Rousseau F, Ghadirian P, Robidoux A, Foulkes W, Hamel N, McCready D, Trudeau M, Lynch H, Horsman D, De Matsuda ML, Aziz Z, Gomes M, Costa MM, Liede A, Poll A, Sun P, Narod SA

Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study

Journal Article

Cancer Res, 68 (7), 2008.

Abstract | Links:

Giroux S, Elfassihi L, Cole DE, Rousseau F

Replication of associations between LRP5 and ESRRA variants and bone density in premenopausal women

Journal Article

Osteoporos Int, 19 (12), 2008.

Abstract | Links:

Giroux S, Elfassihi L, Cardinal G, Laflamme N, Rousseau F

LRP5 coding polymorphisms influence the variation of peak bone mass in a normal population of French-Canadian women

Journal Article

Bone, 40 (5), 2007.

Abstract | Links:

Foulkes WD, Ghadirian P, Akbari MR, Hamel N, Giroux S, Sabbaghian N, Darnel A, Royer R, Poll A, Fafard E, Robidoux A, Martin G, Bismar TA, Tischkowitz M, Rousseau F, Narod SA

Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women

Journal Article

Breast Cancer Res, 9 (6), 2007.

Abstract | Links:

Giroux S, Dube-Linteau A, Cardinal G, Labelle Y, Laflamme N, Giguere Y, Rousseau F

Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR

Journal Article

Clin Genet, 71 (6), 2007.

Abstract | Links:

155 entries « ‹ 11 of 16 › »
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Active projects

  • L'inversion de la pyramide des soins anténataux pour améliorer l'accès aux soins et la santé des mères et des enfants vivant en région éloignée (PROJET PYRAMIDE), from 2024-06-01 to 2027-03-31
  • Rapid whole-genome sequencing in acute care neonates and infants, from 2021-07-01 to 2025-09-30
  • Using fetal enrichment for genomic non-invasive prenatal screening of fetal aneuploidy before 10 weeks of pregnancy : A proof-of-concept prospective study, from 2024-04-01 to 2025-06-30

Recently finished 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 2024-06-30
Data provided by the Université Laval research projects registery