My mother was diagnosed with triple negative breast cancer at the age of 30, both of which are strong indicators of a genetic mutation. My mother was quick to expose my sisters and me to the danger we may face in young adulthood following her diagnosis.

Today, I want to dive into the role genomics has played in my journey. As an MD specialized in genomics, this journey has been an eye-opener regarding the clinical implementation of genomics and the accessibility of genomic profiling for real patients in British Columbia, Canada, and beyond. There have been good surprises and also situations where I've directly faced barriers and limitations surrounding the clinical use and implementation of genomics.

Before it was known that genes could be linked to various cancers, 1970s research focused largely on viruses and their role in the development of cancer. With the knowledge that family history had an impact on cancer risk, Mary-Claire King, an American geneticist, began to theorize possibilities beyond viruses and started her mission in identifying the cause of breast cancer running in families.

In today’s post, we provide the questions that were sent in and asked during the live session of our Questions and Experts session held in June 2022. In this session, Rachel Mador-House, a certified Genetic Counsellor, answered questions about genetics and genetic testing. In the parentheses, you’ll find the timestamp of where to find the question in the on-demand video.

Stacy Zelazny lives in a tiny town in Ontario, literally, she resides in a little-known place called Tiny, Ontario. Stacy describes herself as a mom of two amazing girls who is married to her best friend and winning the biggest fight of her life.

A breast cancer diagnosis comes with so many questions and there never seems to be enough time at appointments to have some of these questions answered. To help address this, we developed a "Q&E: Questions and Experts" series. In this series, a variety of experts spend the entire virtual session answering pre-submitted and live questions from participants. Watching the videos on-demand might be a little difficult to get through. So, we’ve created this guide to help you get right to the questions and answers that matter the most to you.

A genetic counsellor is a health care professional with specialized education, training, and experience in medical genetics and counselling. Genetic counsellors work with both individuals and families that have a medical, family history, or potential risk for an inherited condition. The role of a genetic counsellor is to identify families at risk for genetic conditions, provide information and supportive counselling, coordinate and review testing options, and connect patients/families with appropriate community resources.

If you are at high risk for developing breast cancer because of family history or because you have the BRCA1 or BRCA2 gene mutation, you have several preventative treatments to consider. These options include close surveillance, chemoprevention, and prophylactic mastectomy, with or without breast reconstruction. 

Carla Van Wyck-MacDonald lives near Shallow Lake, Ontario with her husband and their four children, ages 9, 11, 13 and 14. Carla was initially diagnosed with breast cancer two years after her mother died from the same disease.

At the very core of my being, I radiate feminine essence. I grew to understand this through the loss of a physical trait that has been deeply rooted as a symbol of femininity and sexuality for so many centuries - my breasts. At the age of 18, I was diagnosed with the BRCA1 genetic mutation just as my mother, auntie, and sister before me. This meant that I was at high risk for contracting breast cancer.

The worst weeks of my life had finally come to an end. It had been six weeks since my lumpectomy. Six terrifying weeks, living with many unknowns, in a state of complete disillusionment. But the wait was finally over because today I would meet my medical oncologist for the first time, she would go over my pathology report, and reveal my treatment plan. Going into the appointment I felt ready to face whatever would come my way. After experiencing the darkest days of my life, I had emerged feeling strong and optimistic. I had done a lot of research and decided that the odds were in my favour, I could beat this… unless I had triple negative breast cancer (TNBC), because that was a different story. However, I wasn’t worried about that because I knew that TNBC only makes up 10-20% of breast cancers and that aside from my age, I didn’t really have any risk factors. So, there I was, full of hope, when I was hit with what I had identified as the worst-case scenario. As soon as I heard “Your cancer is triple negative”, I burst into tears. I don’t remember much of the appointment after that.

If you’re going to be told you have breast cancer, you want to be able to say, “They caught it early.” With Triple Negative Breast Cancer (TNBC) - an aggressive, difficult to treat type of breast cancer - early detection is especially important.

Two days ago, my lower back seized and then, seemingly stuck. Never have I ever had back problems. Yet, here I am frozen with body-gripping spasms. I can’t roll over in bed, stand up straight or even wipe my bum without yelping loudly. Thank God, and I don’t say this lightly, I was able to call a friend (who suffers from chronic back pain), who called her chiropractor, who graciously booked me in at the end of his appointment-packed day.

2020 was eventful, to say the least. It was a year where many had to shift and pivot from their everyday normal. Appointments were cancelled, surgeries were delayed and rescheduled, and patients found themselves having to access their doctors and healthcare team through a screen. Breast cancer patients had to not only worry about their risk of contracting the COVID-19 virus, but they also had to maintain their cancer care as best they could, something that was a challenge both mentally and physically.

It’s now 2020! How strange does that sound? 2019 was a busy and impactful year at CBCN. So, we thought we’d look back and see what blogs you, our readers, found to be the most valuable. Here’s the top 10 list of most read blogs on CBCN’s Our Voices.

According to Genetics Home Reference, “Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.”