What is a geneticist?
A geneticist is a medical doctor with special training in genetics. Geneticists are trained to look for and diagnose genetic conditions in individuals and families. During your appointment, the geneticist may do a physical examination to look for signs of a genetic condition.

What is a genetic counsellor?
Genetic counsellors are health professionals with special education and training in medical genetics and counselling. Genetic counsellors give information and support to families at risk of having different genetic conditions.

Genetic counsellors:

What is the importance of family history?
Your family’s health history can be important information. Having this information to share with the geneticist and genetic counsellors can help with diagnosis, and assessment of your chances of having a genetic condition. During your genetics appointment, the genetic counsellor and geneticist will ask you about your family’s health for three to four generations of your family.

Before coming to your appointment, it can be helpful to:

Some possible questions to ask:

  1. Has anyone had a major medical condition (e.g. cancer, heart disease, mental illness, diabetes, high blood pressure, neurological conditions, etc)?
  2. How old were they when they first developed the condition?
  3. How old were relatives when they died? What did they pass away from?
  4. Has anyone had learning problems or mental retardation?
  5. Has anyone had any birth defects such as a cleft lip, hole in the heart, or spina bifida (hole in the spine)?

What is genetic testing?
Genetic testing involves looking at your genetic material, your DNA. Genetic testing usually involves giving a blood sample. In the lab, technicians get genetic material from the blood sample for genetic analysis.

If we arrange for you to have a genetic test, it can often take several months before we receive any results back. This is because of several reasons. We often have to send samples to laboratories that are outside of Canada. There is special paperwork that we need to do to arrange this. Also, genetic testing involves some special procedures in the laboratories. Sometimes this can be quite time-consuming. The genetics team will give you more specific information about any genetic test you choose to have.

Is genetic testing right for me?
We encourage you to speak with a genetics professional about what genetic testing can and cannot do for you. Some individuals also have concerns about ethical and social issues related to having genetic testing. It is best to talk to a genetics professional before you have genetic testing.

When you are thinking about having genetic testing, it is important to know that:

Genetic testing can:

Genetic testing cannot tell:

What is the impact of having a genetic condition?
As an adult with a genetic condition, you may be just learning about your diagnosis. Or it may be something that you and your family have been aware of for years. Your feelings, questions and concerns about having a genetic condition can change with time. For example…

Having a genetic condition can affect you in different ways throughout your adult life. Our genetics team understands this. We are here to talk with you and give you support about these issues. We are also available to help you find additional support and resources in your community.