Genetic Testing…and Me

Genetic Testing…and Me

Written by: Valerie J Connor, MA CCC-SLP, MS CHES

Some years go quickly and are just as quickly forgotten.  Others stick with you because they were memorable.  For example, I specifically remember 2^nd grade because I survived the chicken pox and our family took an amazing trip to Washington D.C.  I also specifically recall 6^th grade, because my younger brother was born.  Of course, 2001 and 2004, will always be important, as those were the years that my children were born.  The other years are pretty much a blur of jumbled memories.  This year – 2018 – will likely stick with me for the rest of my life.  It is the year I found out I am a carrier of the BRCA2 gene mutation.

Over 10 years ago, my dad’s first cousin lost her battle with ovarian and breast cancer.  Before she died, she decided to get genetically tested.  Keep in mind, this was relatively new technology and not widely done, so I consider her to be a bit of a trailblazer.  Her genetic tests results inspired her sister and brother to be tested, along with my dad’s sister – my aunt (Doris).  Doris tested positive for the BRCA2 gene mutation.  She encouraged my dad to be tested, but he was hesitant.  The topic came up in general conversation, but I was young, busy with two small children, and not too concerned.

Jump ahead about 12 years.  During this time, my aunt did everything right.  Due to a previous hysterectomy, she no longer had her ovaries, so ovarian cancer was not a concern.  She was considered “high risk”, so she alternated mammograms with MRI testing every six months.  She consulted with an oncologist who prescribed various anti-cancer medications as the years progressed.  In 2018, a small tumor was found during a routine MRI.  Within weeks, a double mastectomy with reconstruction was scheduled.  Fortunately for Doris, the cancer did not spread and no extra treatments were required. 

As soon as my aunt was diagnosed with breast cancer, my health and wellbeing took front stage.  I immediately called my primary care physician who referred me to a genetic counselor through Genesis Health Systems.  I honestly didn’t even know that position existed and I work for Genesis.  My spit was collected and shipped off to the same genetic testing facility my aunt’s doctor had used.  Apparently, it is helpful if you use the same testing facility so they can compare results – it reduces false positives.  Depending on how you look at it, I lost the genetic lottery.  There was a 50/50 chance I carried the gene mutation, and I was on the losing 50%.

Since that time, I have had an oophorectomy – removal of both ovaries and fallopian tubes.  BRCA2 gene mutation carriers have a 45% chance of developing ovarian cancer, but ovarian cancer is difficult to detect.  Once it’s detected, it’s extremely hard to treat.  The decision to remove my ovaries was simple.  Once the ovaries were removed, my risk of developing breast cancer went from 85% to 45%.  Although I miss estrogen coursing through my body, apparently it is not helpful to people with the BRCA2 gene mutation.

Yesterday I had my first (and possibly last) breast MRI.  I meet with a surgeon in a few weeks and we’ll discuss options.  I haven’t completely decided yet, but I don’t relish the thought of taking anti-cancer drugs or getting tested every 6 months.  I’m more of a “just fix it and forget it,” type gal, so I’m leaning toward surgical options.

However, just because I remove my ovaries and breasts, I won’t be completely free of cancer risks.  I’m still at high risk for pancreatic cancer. 

I’ve spoken about this journey with many people over the last few months.  The reactions are a mix of sympathy and questions.  I encourage everyone to consider professional genetic testing if there is familial history of cancer.  Pop-science versions are available, but these tests might only look at very specific genetic markers and not the entire spectrum.  Also, once you send off your DNA to a service such as 23andme, you lose all rights to privacy.  With professional genetic testing, your DNA results are protected by HIPAA’s Privacy Rule, as well as a slew of other ethical protections.

The genetic counselors at Genesis were amazing at asking all the right questions and pointing me in the right direction.  Testing was completely covered by my insurance, as have the subsequent doctors visits and surgery.  It’s empowering to have all this knowledge at my disposal.  I can be pro-active and make decisions without the complications of fear and urgency.

Eventually, my two kids will have to be tested.  BRCA2 is a cancer that develops later in life, so there is no rush.  They also have a 50/50 percent chance of inheriting the gene mutation.  I sincerely hope they win the genetic lottery.