Genetics plays a vital role in the health of our future children, but it is not uncommon for this to get overlooked by healthcare professionals who do not specialize in genetics. On this Genetic Counsellor Awareness Day, I am excited to share some of the many ways fertility genetic counsellors can help those trying to conceive.


Family History

Genetic counsellors are trained in gathering a patient’s family medical history. They can use this information in many ways. If there are conditions in the family that are known to be genetic or have a genetic component to them, we will identify those and discuss the chances of those conditions being passed on to your future children. We do our best to provide statistics and percentages where we can. It is very common for people to see areas in their family history and assume they are genetic, or that there is a high risk they will be passed on to the next generation. People are often reassured after genetic counselling sessions because a risk that was previously unknown (or assumed) is now more defined.  Disease risks are often lower than people assume!

For people conceiving with a donor, genetic counsellors obtain detailed information about the donor’s family history to provide to the intended parents. This information may be used by the clinic/agency/bank to determine if a donor can proceed with the donation or could be included in the profile provided to intended parents. Family histories obtained by a genetic counsellor are often much more thorough than histories obtained by non-genetics professionals. When working with an agency or known donor, intended parents may choose to have their donor’s family history taken by a private genetic counsellor that they trust to obtain detailed and accurate family history information. Intended parents can also meet with a genetic counsellor to review donors they are considering and discuss any concerns they have with the donor’s family history.

The idea of having to review the full details of your family history with a genetic counsellor can feel overwhelming if you already have a lot on your plate with fertility treatments. Do not worry if you are not sure what to ask, or what to tell us. We know what we are looking for and are trained to ask the right questions to get the information we need. If you have the time and energy to speak with your family members to get more details this can be helpful.  If this cannot be done, do not feel like a genetic counsellor cannot help, they can.

It is very normal to feel anxiety leading up to a genetic counselling appointment.  Feelings of shame and guilt are common in genetics, even when most things are totally out of our control. A genetic counsellor is a supportive part of your care team who can help with the challenging emotions that come up during discussions. We know it takes a lot for you to be open with us about what you are going through, and we feel honoured to be able to support you during these vulnerable times.


Genetic Testing

Genetic counsellors provide support to anyone who has had or is considering genetic testing. Sometimes we may identify a genetic test that could benefit you when reviewing your family history. Others may receive genetic counselling because their doctor has recommended a genetic test, or they read about it online and they want to learn more about it. While you may be feeling a lot of pressure to make decisions quickly when trying to conceive, it’s important to feel like you are making informed decisions.

Taking a bit of extra time to meet with a genetic counsellor can help you feel informed, and empowered, and help ensure you do not regret any decisions you make regarding genetic testing. Additionally, a genetic counsellor should never pressure you into doing a genetic test. Our goal is to give you the information in a balanced way and help you make the decision that is best for you and your family.

Some genetic tests that you may wish to discuss with a genetic counsellor while trying to conceive include carrier screening, preimplantation genetic testing (PGT), karyotyping, and other tests recommended by your doctor or genetic counsellor based on personal or family history.


For people conceiving with a donor the genetic test that comes up most often is carrier screening. This genetic test is done on most donors to screen for the risk of certain genetic diseases that can’t be seen in family history. If the egg and sperm provider are identified as carriers for the same condition there will be a high risk of having a child with that disease, and a different donor is usually recommended.  This might seem straightforward, but there is no standard to regulate which genes are tested by the genetic testing labs offering carrier screening. People may think they have tested negative for something when it wasn’t included in their test. The American Society for Reproductive Medicine recommends that intended parents receive genetic counselling from a Certified Genetic Counsellor so they can fully understand the genetic test results of their donor(s).


What to expect from a genetic counselling session

The goal of every genetic counselling session is for the patient(s) to leave feeling that they have what they need to plan. That decision could be whether they want to transfer a mosaic embryo, or if they are comfortable proceeding with a specific donor. A big part of genetic counselling is sharing information. There is a lot of information to share, but sharing information is not helpful if it is not shared well. We know what patient’s need, what they know already, and what decisions they are trying to make. Everyone is unique and has different priorities that are important to them. Here is what an average genetic counselling appointment looks like:

Pre-appointment intake

Share any records that are relevant to what is being discussed. If you have not been given access to these records, you can complete a form that we can access on your behalf.

    1. For a mosaic embryo consult, this involves sharing PGT reports
    2. A donor consultation involves sharing any donor profiles, donor genetic testing, and intended parent genetic testing
  1. The appointment begins and we get to know each other. We may ask questions about your fertility journey, and what outcomes you are hoping for.
    1. For a mosaic embryo consultation, we want to get a sense of what is already known about mosaic embryos and PGT. If you have already met with a genetic counsellor or done a lot of research on your own this helps to guide what we discuss so unnecessary things aren’t repeated.
    2. For a donor, a selection consultation is more about getting a sense of where you are at with the donor selection process. Are you using fresh or frozen gametes? Is your donor a friend or found through an agency? Have you started looking for a donor yet?

Getting to know each other

Deep dive into what we are here to discuss. Slides are often used to show results and pictures of genetic concepts. Patients are always provided with a copy of these slides afterwards.

    1. For a mosaic embryo consultation, we will discuss everything from the basics of PGT, current research on mosaic embryos, your specific results, the chance of pregnancy, worse-case scenarios, genetic testing if the transfer is successful, and more!
    2. For a donor selection consultation, we will review the donor(s) family history and genetic test results in detail. If there are specific things, you are concerned with we will focus on those. If you are not sure what you should be looking for, we can provide guidance.

Next Steps

We may discuss the next steps, coordinate any genetic testing, and review all questions discussed. After the appointment, a consultation note is sent to the patient summarizing everything discussed including slides from the session. We encourage you to share these notes with your physicians or other healthcare professionals.

Access to fertility genetic counsellors can vary depending on where you live. If you are not sure if meeting with a fertility genetic counsellor would help you, book a free Discovery call.  You do not have to deal with this complex topic alone.



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