Genetic counselling is a healthcare service that provides information to individuals and their families about how genetics can impact health. It also involves supporting families as they adapt to new genetic information.

Genetic counselling may help individuals:

• Understand their chances of having a genetic condition
• Understand the chance of having a biological child with a genetic condition
• Understand the features of a genetic condition and how it is passed down (or inherited) in a family
• Make informed decisions regarding family planning, genetic testing, and future health care, based on genetic test results

Usually, genetic counselling is provided by a Genetic Counsellor. Sometimes doctors, nurses, or other health care providers also provide genetic counselling. 

Genetic counsellors often work in a hospital-based genetics clinic. They also work in laboratories, industry, education, and public health settings. 

A formal definition of genetic counselling can be found in this peer reviewed journal article. 

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.

Hereditary cancer is caused by a change in a gene (called a mutation or variant) which is passed down from generation to generation in a family. Family members who inherit the hereditary cancer gene mutation face a higher lifetime risk for certain types of cancer, depending on the gene involved. Families with a hereditary cancer condition (or syndrome) may have a clustering of certain types of cancer in closely related family members, and there may be relatives with more than one cancer during their lifetime.  In these families people often develop cancer at a younger age than usual. 

It is important to note, most cancer is not hereditary, but happens by chance and is influenced by age, environmental factors, and lifestyle choices.

Genetic counsellors obtain a Master’s degree in Genetic Counselling, after having completed a Bachelor degree. Genetic counsellors working in Canada are certified by either the Canadian Board of Genetic Counselling (designated CCGC) and/or by the American Board of Genetic Counseling (designated CGC).

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 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.