What Genetic Counseling for Cancer Risk Is Like

Photo by Sangharsh Lohakare on Unsplash

The BRCA-2 gene mutation runs in my family. So when my physician called to tell me there was a positive breast cancer gene in my body, I wasn’t surprised. In fact, I expected it.

What I failed to prepare for was what came next: talking to a genetic counselor. This, inherently, isn’t a scary thing. It’s practical. It tells those with genetic abnormalities the best next steps for managing their health and being proactive about cancer prevention.

And logically, yeah. That’s all well and good.

But now, imagine talking to a counselor and realizing that the best steps would be to remove one body part after another. She talked about it like it was as simple as changing a video game avatar’s skin. Meanwhile, I was taking notes and asking myself what it means to be a woman.

What it means to be me.

The Practical Part to Genetic Counseling

Genetic counseling “gives you information about how genetic conditions might affect you or your family,” per the CDC.

Conferring with a genetic counselor is only necessary when genetic conditions run in your family or there’s a history of certain ailments. Cancer is one. A history of infertility, miscarriage, or stillbirth could be another.

Birth defects, chromosomal conditions, developmental disorders, and more can all warrant a visit to a counselor.

The session itself could be done in person or virtually, dependent on what makes the most sense for patient and provider. They will have a discussion about family history, ethnic background, and the reason why a genetic test was conducted in the first place.

The genetic counselor is trained to explain any abnormal or positive results, as well as provide emotional support and answer any and all questions should the patient have them.

The counselor is not going to put in scripts or set up specialized appointments with doctors; but they will provide a list of recommendations that patients can bring back to their PCPs for their next action items.

Genetic Counseling: A Personal Account

My genetic counseling session was conducted over the phone because it happened at the height of the COVID-19 pandemic. The woman on the other end was lovely, kind, and paused frequently to let me ask my questions and wrap my head around a BRCA-2 mutation.

In addition, I found out I am CHEK-2 positive, which further increases my risk of breast cancer (among others; joy of joys). Combined, she told me, these two mutations increased my breast cancer risk to more than 80% — a number I wanted to see on the top of my high school chemistry tests, not my cancer score.

As much as I knew the BRCA-2 positive was coming, I was not truly mentally prepared. The counselor began by asking about family history. I explained that my maternal grandmother, mom, and aunt all had the gene. My grandmother had passed from ovarian cancer.

First and foremost, she told me to start getting my annual mammogram. I live in the United States, where women over the age of 40 are recommended to start these types of check-ups, which meant I would be among a small group of young women starting early.

Diet, exercise, a good sleep schedule, avoid alcohol and smoking — the typical cancer-avoidance regimen. (Actually, that’s the avoid-most-diseases regimen, isn’t it?)

She also urged all the other women — and men — in my family be tested.

Then she hit me with the real doozies: I should remove both my breasts and all breast tissue, as well as undergo a hysterectomy (the removal of the uterus, fallopian tubes, and ovaries.)

Essentially, I was told to remove every female reproductive part.

I was 28-years-old. I had never had a major surgery. And I was right around three months pregnant with my first daughter. The magnitude of BRCA-2 had yet to hit me until this moment, as I stared down at the notebook in my hands, reading those words over and over.

Remove, remove, remove.

I firmly believe gender is a human construct. Body parts do not make the person; it’s who and what you feel inside that does. But I couldn’t marry this belief with the idea that within the next two decades of my life, I would be choosing to remove all the parts of me that made me “woman,” that defined my physiological sex as female.

Ask anyone who has anxiety what they would do next in this situation, and inevitably they will tell you that they spiraled. And spiral I did.

I beat myself up over the fact that I was probably giving this gene — and therefore these hard life decisions — to my unborn baby. I kept asking myself if my fundamental belief system was wrong, because I couldn’t “just accept” I was still myself even without all those pieces of, well, myself.

Then I put it all in a box inside my head and shoved it right into storage for another day.

There’s Power in Knowing

Fast forward to today, four years later, and a lot of this has changed.

Part of it I do credit to actually having that baby (and then her sister), which put the idea of living as long as possible to be with them in a whole new light. But I’m not recommending other people dealing with BRCA-2 go off and have tons of kids to find peace; that would be a wild leap.

What I am saying is that time allows for acceptance, and therefore, action. I still haven’t married those two beliefs in my own head — that body parts don’t actually make the person and that the removal of my own body parts won’t make me less of a “woman” — but I have had time to sit with it. I’ve come to terms with it. I’ve done my research and feel at peace with these surgeries.

In fact, I’ve already had my fallopian tubes removed — though only one of the two was voluntary. But that’s a story for another day.

Genetic counseling is important for those with inherited cancer risk. It’s step one out of a billion. But it’s also the first step to having some control over this thing that can make you feel powerless.

Knowing is a power, in and of itself. Deciding what to do with that knowledge can be the reason 80% looks more like 2%.