Purpose of this page
This page helps patients and families before and after a genetics appointment. You will find tips to prepare, visual guides, and helpful links to better understand genetic testing and genetic conditions.
This information helps you understand what happens in clinic. It does not replace advice from your care team.
How to prepare for a first medical genetics appointment
A genetics appointment is with a medical genetics physician and, often, with a genetic counsellor.
A medical geneticist is a specialist physician trained to assess, diagnose, and care for patients with genetic conditions. These conditions, often rare, may be present from (or before) birth or appear later in life, such as some hereditary metabolic diseases, polymalformative syndromes, cancer predisposition syndromes, or other syndromes with varied multisystem findings.
Choose the type of appointment that applies to you. Then open Before / During / After to read the tips.
Prenatal genetics consultation
An appointment to assess genetic risks for the fetus, review screening results (such as NIPT) or ultrasound findings, and discuss diagnostic testing options in a free and informed way.
Pediatric genetics consultation
A specialized medical appointment to assess, diagnose, and better understand genetic or hereditary conditions in a child. It also helps explain observed symptoms (developmental delay, neurodevelopmental differences, malformations, and so on) and plan follow-up care.
To go further
Here is a video that explains what a genetics consultation looks like:
Infographics for prenatal genetic counselling
Click a title to open the visual guide. More topics may be added later.
Note: some visuals are currently in French.
Infographics for pediatric genetic counselling
Click a title to open the visual guide. You can also open it larger on Canva.
Note: some visuals are currently in French.
Helpful resources for patients and families
Here are websites, associations, videos, and tools selected for patients and families. They are grouped by type.
Plain-language websites
Clear, reliable websites to better understand rare diseases and genetic testing.
Patient associations
Patient groups and associations for support and mutual help.
Educational videos
Simple videos to revisit what was explained during the appointment.
Visual tools
Images and visual tools to help explain genetics.
Digital tools
Guides and booklets you can read at your own pace.
Research / clinical trials
Sites to share information or find studies, depending on your situation.
Genetics clinics and physicians
CHU Sainte-Justine genetics clinic
Other genetics clinics and physicians in Quebec (AMGQ)