Medical Genetics

Medical genetics is a specialty that came into being in Quebec in 1997. Its goal is the improvement of the health and wellbeing of people with or at risk of genetic disease. Medical genetics is a hybrid specialty, in the sense that is combines both clinical and laboratory aspects. On the medical consultation side, genetic medicine covers tests and the analysis of physiological and pathological disorders in relation to genetic disease – i.e., a person’s hereditary background. Geneticists specialize in the investigation, diagnosis and management of patients presenting with innate metabolic errors, chromosomal abnormalities and dysmorphism. They also specialize in genetic advice, prenatal screening and teratology. They take part in investigating such problems as malformation, infertility, learning disabilities – growth retardation, together with the predictive diagnosis of genetic diseases and the predisposition to them.

Because of geneticists’ training in often rare (orphan) disorders, they are often called upon to conduct or participate in fundamental and/or clinical research projects. They are in charge of the transfer of research technology and knowledge to clinicians or decision-makers. There is a continuing education program for first-line practitioners and indeed the medical profession as a whole, as genetics encompasses many fields.

Association des médecins généticiens du Québec

Presidente Emmanuelle Lemyre, MD

Administration

Director: Sandrine Guillot
E-Mail: sguillot@fmsq.org

2, Complexe Desjardins, Suite 3000
Montréal, QC, H5B 1G8

Telephone: 514-350-5141
Fax: 514-350-5151

The Association des médecins généticiens du Québec has its own Internet site. To visit it in a separate window, please click here.