Transfert de connaissances en génétique: utilisation de tests génétiques en pratique clinique et communautaire


Anne-Marie Laberge

Centre hospitalier universitaire Sainte Justine


Domaine : génétique humaine

Programme Chercheurs-boursiers cliniciens - Junior 2

Concours 2019-2020

My research program studies how doctors, patients and families, and communities use genetic information to access health care services and make health-related and personal decisions. New genetic technologies make it possible to test for more genetic conditions, and doctors need to learn how and when to use these new genetic tests. My research program will help guide how best to use these new tests to care for patients and communities, around three themes:

1) Population screening for genetic diseases

I study the impact of screening programs that look for carriers of genetic diseases in specific communities. I studied the impact of a screening program that looked for couples at risk of having children with Cree leukoencephalopathy (CLE) or Cree encephalitis (CE), two severe genetic diseases that are found in Cree communities around James Bay. I also studied the impact of a similar program in Saguenay Lac-St-Jean. I am doing a follow-up project to compare carrier screening programs that are independent of routine care and screening that is done in routine care.  

2) Impacts of health policies on the use of genetic services

I am co-lead of a large project, PEGASUS 2, where we will study the impact of the addition of non-invasive prenatal tests for a large number of genetic conditions into the health care system.  

3) Evaluation of genetic tests in clinical practice

I am completing a pilot project to develop a tool to measure the quality of informed consent for genomic tests. I am also involved in Silent Genomes, a project to build a list of genetic variants (variations in the DNA sequence) found in Indigenous populations, to see if it helps come to conclusive genetic test results in Indigenous patients.