Medical Genetics

Try to gather all available health information about your extended family. We need to know about anyone with birth defects, medical problems or learning problems. Pictures of family members (at younger and older ages) are sometimes helpful, so bring them with you if you can. It is also important for us to know about miscarriages or children that died at young ages. Knowing why these events happened is also helpful.

Clinics are held at the Montreal Children’s Hospital, the Royal Victoria Hospital and the Montreal General Hospital. When booking your appointment, the secretary will tell you exactly where to go.

A geneticist is a doctor who specializes in diagnosing and treating families with different medical issues that can include single or multiple birth defects, sensory deficits (like hearing loss or blindness), learning disabilities or developmental delay, errors of metabolism, problems with growth (short or tall stature), and familial disorders such as cancer, high cholesterol or heart disease.

Genetic counsellors are health professionals with a specialized Master’s degree in science and experience in the fields of medical genetics and counselling.

To help families understand a diagnosis, genetic counsellors can provide detailed, accurate and up-to-date information. They can also explain reproductive risks and risks to other family members. It’s important to deal with the emotions that come with the discovery of a genetic disorder, which is why preliminary counseling is offered to patients who, when the situation indicates, are referred to other support networks.

Finding a reason for a family member’s health condition is important; it may explain why the problem happened, which can be reassuring. Once an answer is found, you’ll be able to learn more about what to expect in the future, including possible treatment options in some cases. We can let families know if this condition is something that may occur again, and in such cases, means of prevention may be available. Finally, genetic counselling may help your family to adjust. In addition to the extensive support services that we provide, we can offer you referrals to other support organizations.

The initial appointment may last 60 to 90 minutes. The genetic doctors and genetic counsellors will ask you questions about your child’s medical history, their mother’s pregnancy history, and the medical history of other family members. Some questions may seem personal, but they will help us understand your child better. 

The doctor will examine your child and talk about the condition. Tests, such as blood tests, urine tests, or X-rays, may be requested. In addition, pictures may be taken of the patient and their family for documentation in the genetics chart. Additional referrals to other specialists and follow-up appointments in the Genetics clinic may be recommended.

A letter summarizing the evaluation, discussion and follow-up plans will be written and sent to the patient’s referring physician. A letter may also be sent to the family.