Genetic counsellors help people make sense of their genetic risks, choices, and testing results. Whole genome sequencing and large gene panel testing (like familial cancer gene panels) has led to a concomitant increase in the reporting of secondary genetic findings and variants of uncertain clinical significance.

Genetic counsellors can help you prepare for unexpected and inconclusive results. They will also help you make decisions that align with your values and needs and respect your autonomy.

“Thank you for keeping everything simple and breaking it down for me. Sometimes people share medical results and it is a lot of jargon so thank you for being patient with me and taking the time to explain everything in a way that was not confusing.”

“Thank you so much for making this such a painless experience. I really appreciate the time you took the explain my results. You’ve been wonderful.”

Genetic counsellors can:

  • Help you make autonomous, informed choices regarding genetic testing
  • Help you understand your genetic test results
  • Assess your family and health history with respect to genetic risk
  • Calculate and communicate genetic risk
  • Help you understand your genetic test results
  • Help you adapt to a genetic diagnosis or risk
  • Provide psychosocial counselling support

You may benefit from genetic counselling if:

  • You, your child or a relative has been diagnosed with a genetic condition
  • You have a family history of birth defects, intellectual disability and / or autism You and your reproductive partner are blood relatives
  • You are a carrier of a recessive genetic disorder (ex cystic fibrosis, thalassemia, sickle cell anemia) There is a family history of two or more close relatives with the same type of cancer and/or who was diagnosed with cancer at a young age.
  • You are at increased risk to have a child with a genetic disorder and wish to learn about your options for pregnancy planning
  • If your pregnancy is at increased risk for a genetic disorder or you have a positive prenatal screen result”

“I’m very relieved to get his result. I had so much anxiety going into the appointment. I had googled every gene linked to breast cancer. Obviously no one wants a positive results, but I was scared that I might have a mutation in gene that we don’t know much about. Now that I know what the mutation is and know there is good screening guidelines, I can take this to my doctor. My anxiety is reduced by 1000%.”

What you can do to prepare for a genetic counselling appointment:

1) Collect and document your family history and personal medical history. Try to include:

  • how the affected person is related to you
  • their date or year of birth
  • age at and cause of death (where applicable)
  • The name of their diagnosis
  • The age of onset of symptoms

Here are some helpful tools to help you document your family and health history:

2) Make a list of your questions and concerns.

3) Gather any documentation or reports that may help to clarify the family or medical history and have it available to share with your genetic counsellor.

“Thank you so much for being gentle with this; it’s not what I wanted to hear, but you made me feel like I have an option for what I can do next instead of being bombarded and confused by [the mutation].”

Getting a referral to a genetic counsellor:

Ask your primary care provider to refer you to your local genetics or cancer genetics clinic. Check out our Find a Genetic Service in Ontario page to search for a clinic near you.

Additional resources: