Geneticist
The practice of medical genetics consists of evaluating patients who have suspected genetic, genomic or congenital conditions for the purpose of diagnosis, management and treatment. It also includes the performance and the interpretation of laboratory tests in cytogenetics, biochemical genetics, molecular genetics and genomics.
The medical geneticist assesses patients at all stages of life: preconception, prenatal, neonatal, childhood, adulthood and even after death in some cases.
The medical geneticist also offers transmission risk assessment and genetic counseling to patients with genetic conditions and their families.
C.P. 216, succ. Desjardins
Montreal (Québec) H5B 1G8 Open in map
Achondroplasie, dystrophie musculaire de Duchenne, Leucinose, etc. Il existerait environ 7000 maladies rares et environ 500 000 personnes en seraient atteintes au Québec.
Dans le cadre de la journée internationale des maladies rares, la Dre Valérie Désilets, médecin généticienne, vous en fait découvrir davantage sur les origines et les trajectoires de prise en charge ou de traitements offerts aux patients.