Empowering Health Choices Through Genetic Counselling

Long description

This graphic illustrates the healthcare journey when genetics/genomics are suspected to play a part.

Questions raised, speak to the healthcare team that includes a genetic counsellor, gather information, help sort through the information, genetic counsellor can provide support to help an individual or their family members make choices in the healthcare journey that is right for them.

Genetic Counselling

In our article about genetic counselling we explored what genetic counselling is and what genetic counsellors do. To help understand the impact genetic counselling can have, we interviewed Chiquita Hessels and Esther Schultz who shared their experiences.

Their stories are not the same, but their experiences of having a genetic counsellor were similar. They both shared that genetic counselling provided support and knowledge during their own and their families' health journeys.

Why genetic counselling is important – Esther Schultz

At the time of birth, Esther's baby Elianna was in distress. The healthcare team was trying to determine what was happening. At three days old, Elianna's MRI provided a preliminary diagnosis of Zellweger Spectrum disorder^{Footnote 1} which needed to be confirmed through genetic testing. Following three very difficult weeks of waiting, the genetic test results confirmed the diagnosis.

The genetic counsellor was able to help Esther, and her family understand the diagnosis, what was happening, and support them in their decision-making. Esther shared that there were no easy answers or clear directions, but having the support of a genetic counsellor helped her and her family navigate what was right for them.

"They were a huge support through our whole experience," Esther said.

During this time, the genetic counsellor also discussed future family planning, and how they could guide them through it down the road. "That was really good to know we had that in our back pocket," Esther expressed. Zellweger spectrum disorder is a rare genetic disorder, caused by changes in specific genes and can be passed on to offspring.

Six months after Elianna passed away, Esther found out she was pregnant. She reached out to the genetic counsellor who supported them to discuss prenatal diagnostics, options and risks. At 12 weeks, they opted to have prenatal testing done, which made it even more challenging because of the need to travel out of the province to have the testing done.

Esther expressed that the waiting period for the test results was hard. A month later, the test results showed the fetus had the same genetic disorder, Zellweger Spectrum disorder.

The genetic counsellor sat down with Esther to talk through the information, options, and asked her what she wanted to do with the information. Esther explained that the genetic counsellor "created a safe non-judgmental space for me to ask all of my questions."

Esther shared that the counsellor never told her what to do. They simply provided the facts, discussed the information, and supported her in making the best decision for her family.

Speaking with the genetic counsellor "gave me what I needed to feel empowered in our decisions…"

The genetic counsellor was able to help them prepare for Eli's birth.

Esther shared, "Having that information gives you … the power to make sound decisions for yourself in a situation where so many things are out of your control, and so uncertain." It gave "…some agency [compacity/empowerment] in how it unfolds, which is critical. And that agency comes out of having information…," expressed Esther.

Esther and her family's experience highlights the vital role genetic counselling plays in supporting patients and families.

Genetic counselling: support that helped Chiquita Hessels advocate for herself and others

Cancer diagnosis was prevalent in Chiquita's family. After the passing of her mom and aunt, and Chiquita's cancer diagnosis, she underwent genetic testing. The first genetic test, BRCA^{Footnote 2} screening came back negative, which gave an answer, but led to more questions.

Soon after, a genetic counsellor approached Chiquita about participating in a multi-gene panel screening. This was a novel test at the time in Canada.

Chiquita was actively involved in her medical decisions and proceeded with a double mastectomy. Shortly after, the second genetic test results came back and showed she had Li-Fraumeni Syndrome (LFS), inherited predisposition to a wide range of cancers caused by a change in the TP53 gene.

The genetic counsellor helped Chiquita navigate through the results, and became a cornerstone, not only in her care and support, but also in that of her family. Li-Fraumeni Syndrome is hereditary; it can be passed from parent to offspring.

"Having a genetic counsellor on our [healthcare] team was vital. A genetic counsellor is changing somebody's world," Chiquita said. They are there to support you through the process.

A genetic counsellor has the education in genetics, the knowledge to answer questions, and the "compassion to be one-on-one with their patient. Genetic counselling should be a part of that care team," whenever genetics are suspected to be involved in what the patient is experiencing, Chiquita expressed.

Chiquita continued her active role in her care and was able to voice what she learned to her healthcare team. "I don't think, if it weren't for the genetic counsellors listening to me," I would have been able to be heard as well.

"…with my genetic counselor hearing me," it had a snowball effect of advocating for myself, my family and eventually others.

Chiquita's active role in the Li Fraumeni Syndrome Association (LFSA-C) helps inform patients, families, and others about LFS, and for people affected by LFS to advocate for themselves.

These experiences highlight how important genetic counselling is for individuals and their families in their care journey. It is also important to recognize the need to continue research in genetics and genomics to advance our knowledge, that can help improve our capabilities to predict, diagnosis, support or treat health conditions.

Please visit our webpage, to understand what genetic counselling is and what role genetic counsellors play.

Navigating Genetic Information – Genetic Counselling

Date modified:

2025-09-08