Fourteen years ago, I got the news that I had cancer. It was in both breasts. My colleagues were there for me all the way. Then, after nine months, my treatment ended, and I went back to work as a family doctor, but things were different. I was fragile. I had a new body. I was living with a newly diagnosed BRCA gene mutation that put me at high risk of breast and ovarian cancer. I required a prophylactic hysterectomy and breast reconstruction, making choices that would impact me and my family. The psychological impact was massive.

Put your hand up if the thought of being screened for breast cancer never crossed your mind until you or your doctor found a lump in your breast or armpit? I’m literally holding my left arm up in the air right now, as I type this. Crazy isn’t it, that we don’t think to have the girls checked to make sure they’re healthy until something goes wrong or until someone we know has been diagnosed with breast cancer.

My adrenaline now pumping, I knew what she was going to ask. I was already reaching into the back of a dark closet as the rep faintly suggested, “You wouldn’t happen to have…?” “Yes!” I replied excitedly. It was the Thursday before Easter and the cancer centre was closing for the four-day weekend, but I promised to scan the documents and email them to the rep before her return on Tuesday. My initial consultation with the lead oncologist was scheduled for the following Friday and there was no time to lose. “Let’s get this show on the road!” I rallied.

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.

My cancer journey began when I noticed my right breast leaking. I honestly chalked it up to a hormone imbalance and thought nothing of it until six months later, when the leaking had not subsided, and my breast had become very itchy. During this time, I had also noticed how tired and fatigued I was every day. I found myself napping a lot and needing that nap to just make it through the day. I decided that I better make a doctor’s appointment to see what was going on with my body.

Firstly, I want to say that I am not sharing my story to encourage anyone to quit treatment. Please don’t! This is risky. I’m really rolling the dice here. I am choosing my quality of life over longevity. That’s not for everyone. I had been unable to tolerate any of the aromatase inhibitors (AI; a type of hormonal therapy used to lower estrogen levels to slow or stop cancer growth), so I felt I had little choice but to pursue other options.

I’m a Tamoxifen fail. I quit taking the drug just shy of my five-year prescription’s halfway mark. The estrogen-blocking pill fried my short-term memory within the first 14 days and then, tormented me daily with its version of Jay-Z’s “99 Problems.” And lucky me. I experienced every single one of them.

I don’t need to tell you what was happening between 2019 and 2023. By May of 2022, I’d received four COVID-19 vaccinations and felt confident to attend a musical production with my niece. We were front row centre and seemed to be the only patrons with masks, soon discarded I must confess. When I found myself coughing a few days later I assumed it was COVID that I’d picked up in the theatre and left it to my presumed immunity to deal with.

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.

I don’t know what it was like for you but for me, saying “I have breast cancer” out loud felt fake, like I was lying. Every time the words came out of my mouth I wanted to hide. Rationally, I knew my diagnosis was real, but the horrible emotions that preceded and followed each proclamation filled me with shame. And the voice inside my head was relentless. It just kept goading me on.