Exploring my Genes

 

My cousin had gotten genetic counseling done following the passing of her mother to breast cancer. It’s something that I have had on my mind for quite a while now and it took just as long for me to schedule the appointment.

 

I called my OBGYN to ask for a referral and when she called me back, I felt she was quite trivial in her response. She said that since the cancer primarily stemmed from my father’s side, that it was unlikely for it to pass on to me, but she’d write me the genetic counseling referral anyways. I felt a bit disrespected, honestly.

 

I realize that I am a 25 year old female with no real determining factors aside from the finite cancer history in my family, but I work in health prevention. So, I felt that it was important for me to meet with a genetic counselor to see what genetic mutations I am carrying.

 

After scheduling the appointment, I fell into a rabbit hole of research, looking for every prevention method possible. I also felt that I was crazy when I told some friends that I was getting it done. Many kept asking “Why do you want to know if you have a gene that can cause cancer?” or “God, you are so morbid! Why do you feel like you’re going to die?”

 

Truthfully, I don’t constantly think I’m going to die and I did want to know if I carried any of these genes.

 

Especially because the appointment and testing were covered under my insurance (If you’re interested, contact your insurance company to see if it’s covered!). While at the appointment, I was met with the counselor, taken to her office and asked a slew of questions about my family history. She was kind of enthralled that someone so young was coming to see her. I had a fairly small amount of medical history to share with her too because my family is still pretty young.

 

While I was talking, she created a pedigree chart for my cancer history. It was so interesting seeing the history put together.

 

We walked through my risk of cancer based off of the pedigree alone and then since cancer was present, I was able to send a saliva sample or a blood sample to the lab for the panel of testing. I was able to test twenty six various genes that are linked to the top eight cancers. I could have opted just for Breast Cancer panel (BRCA1 or BRCA2), but for anyone who knows me knows that if I do something, I go all in. I also opted for the blood test because the idea of spitting into a cup really grossed me out. While waiting for the blood pathology lab test technician to come and take my blood, she asked me if I understood the results of completing the test.

 

Obviously, I knew that this isn’t a light decision and I made light of it with her because I have done an immense amount of thinking prior to the appointment. If I tested positive for BRCA1 or BRCA2, it would require more frequent mammograms and breast MRI scans, but depending on severity, it could also result in a full mastectomy, hysterectomy, or both.

 

I received the test results today and I’m fortunate that there was no detection of the mutations, but a more indepth path shows my risk of breast cancer is 34%.

 

The positive for me is that I can begin with prevention work sooner.

 

The recommendation is to begin with mammograms and breast MRI scans earlier than the norm since I have the test that warrants it. Overall, I was prepared for the worst. I was happy to receive my results, regardless of what the outcome, I could prepare and work on prevention procedures to catch the cancer earlier.

 

Maybe it isn’t so obvious to the normal person, but prevention is key. That’s why we have annual physicals, dentist visits, OB-GYN visits and dermatology visits.

 

I wrote this to enlighten you to the option to have the genetic counseling done because the earlier you get tested, the earlier you can start preventing. According to my genetic counselor, there’s about a 15% chance of cancer from environmental factors alone. Why not learn what you need to do to prevent the surprise?

 

My cousin was the one to convince me to get the testing panel done and genetics are really interesting! Even though I tested negative, the genes could have been passed to my brother or sister instead.

 

So, it’s important to get tested, if you’re interested and trying to build your family pedigree of people being tested. The more history and results the genetic counselor has, the more accurate pedigree history can be created to get a more holistic look at your health.

 

Bridget

Bridget Marley is a graduate of East Stroudsburg University’s Public Health Department. She spends her time educating adults and youth on public health initiatives. She is an avid coffee drinker, a new lifestyle writer for She’s It, has an animal obsession, and is just trying to find her niche in this world.