There are many topics that will be discussed when meeting with a genetic counsellor. A genetics appointment might also include a physical exam, performed by a Medical Geneticist (doctor). If genetic testing is offered, it will most often be done using a blood or saliva sample. 

Part of a genetics appointment includes gathering accurate personal health information and family history. Common questions asked by a genetic counsellor might include:

• Current and past medical history.
• Family health history information.  Usually, a genetic counsellor will ask questions about at least three generations of your family.  It is useful to know the name of any conditions diagnosed in relatives, as well as their age at the time of diagnosis.
• Your partner’s medical and family history, if relevant.

During an appointment, a genetic counsellor may discuss:

• The features, signs, and symptoms of a genetic condition.
• How a genetic condition is passed down (inherited) in a family.
• The likelihood of having a genetic condition.
• The chance of having a biological child with a genetic condition.
• Genetic testing options.
• The benefits and limitations of genetic testing.
• The possible results from a genetic test.
• Available screening, surveillance, and/or treatment options.
• Available resources related to a genetic condition.

Your doctor will offer screening for various conditions during your pregnancy. This screening will include a combination of a blood test, mother’s age at delivery and possibly an ultrasound. All of this information helps evaluate the chance that the pregnancy may have Down Syndrome (Trisomy 21). A positive (or high risk) result means your pregnancy is at an increased risk for Trisomy 21. This does not mean that the baby definitely has Trisomy 21. However, your positive screen means that there is a higher chance that this may happen and therefore you are eligible for some additional testing if you wish to clarify if this is the case or not. Talk to your family doctor, obstetrician, or midwife about next steps, such as follow-up testing or a referral to a genetic counsellor.

Your genetic counsellor will ask you questions about your pregnancy, as well as your family history. They will review genetic concepts, and review information about the reason you were referred (e.g., a positive screen, an ultrasound finding, or a family history of a genetic condition). You will be offered appropriate testing, if applicable, and you will be supported throughout the process. In some areas, follow up is done by a team of clinicians and nurses.

If there is a known hereditary cancer condition in a family, and a person tests negative for the specific mutation seen in their relatives, it means they do not have the increased risk for cancer associated with having that gene mutation.  

However, no genetic test can eliminate the risk for a person to get cancer. This is because most of the time cancer occurs sporadically, influenced by risks related to a complex combination of increasing age, environmental factors, and lifestyle choices. A person who is negative for the hereditary cancer condition known in their family can still develop cancer sporadically, like other people in the general population. 

A person’s residual risk for cancer after genetic testing should be discussed with their healthcare provider, as there are multiple factors to consider.

We all have differences in our genes. Most of those differences do not cause us any harm and simply lead to our individuality. However, some of the differences in genes can lead to health conditions. We call these changes harmful or pathogenic. In some cases, the lab will be unable to say with certainty if a genetic difference will or will not be harmful. We call these uncertain results variants of uncertain significance (VUS). The lab may be unable to clarify due to many factors, but typically there is not enough information in the genetics literature to say with certainty if your genetic difference is harmful or not.  In a few years, new information may be available to clarify if the change is related to the health issues that you have or that is present in your family and therefore it may be helpful to recontact your genetics team.

In Canada, an appointment with a genetic counsellor is often covered by provincial health systems for individuals who meet eligibility criteria.  Eligibility can vary from centre to centre. 

Genetic counselling appointments through a private clinic are typically not covered by provincial health insurance plans.  Some extended health insurance plans may cover a portion of a fee for genetic counselling and/or genetic testing.  Some genetic testing companies offer accompanying genetic counselling services.