Genetic counseling

Every appointment with my oncologic surgeon has ended with, "and we'd really like for you to have genetic testing."  And, from his perspective, I get it.  It's weird that I was diagnosed with breast cancer at 31.  My mom had ovarian cancer.  Knowledge is power.  Blah, blah, blah.  I was originally reluctant to consent to the testing because a) I didn't think there was a strong family history of cancer, b) from here on out I'll be having annual mammograms anyways and c) how do you mentally process getting a positive result from the genetic testing?

Turns out there's this thing called genetic counseling!!   I live in a town with a university and a medical school, so I had an appointment within days of requesting genetic counseling and a mere ten minute drive from my house. I imagine genetic counseling isn't as easy for everyone to come by, but I do recommend it if you're likewise hesitant about genetic testing.

I wasn't really sure what to expect at the appointment.  Are they going to draw blood?  How much family history do I need to know?  Ever since this whole cancer thing started doctor's appointments are so much scarier.  You have no idea what to expect at the appointment (exams, testing, etc) plus you're scared to death of what they're going to say.  I've learned to call ahead and just ask the first person who answers the phone what to expect. It goes something like this:

"Hello this is Scary Doctor's Office."
"Hi, I have my first appointment with Scary Doctor on Tuesday and I just wondering what I could expect."

It works really well!  In this case I found out that I could have the genetic testing done from a blood test or cheek swab following genetic counseling if I wanted.

At the appointment with the genetic counselor, she started by making a family tree making little circles and squares reminiscent of ninth grade biology.  First she drew me, my parents and my siblings.  Then she drew my mom's sister and her kids.  Then she went up to my mom's parents and their siblings and children.  Then she repeated on my dad's side, so she went as far back as my grandparents and my parents' first cousins. She made notes of everyone's age, if anyone had been diagnosed with cancer and wanted to know the cause of death of anyone not living and their age when they died.

The genetic counselor makes little family history art projects like this one!

Once she was done with the genetic family tree diagram, she went through a slideshow of sorts about the BRCA1 and BRCA2 gene mutations.  I could tell you all about it, but maybe should leave this subject to the experts.  You can read a comprehensive fact sheet about gene mutations and genetic testing here that pretty closely follows what I learned from the geneticist. But be warned, there is an unfortunate word choice: deleterious.  Good word, bad place to use it.  And/or you can read a more user-friendly yet less in depth summary here.

After reviewing my family's history of cancer, she plugged in the information into a computer model which showed that I have a 51% chance of having a BRCA gene mutation.

When my mom was diagnosed with ovarian cancer, there was talk of genetic testing.  She did not have the test, as the only other person in her family with a cancer in the BRCA gene family was her first cousin on her dad's side (although we know now the BRCA gene can be passed from the mother or the father).  Had she had the test, and had she tested positive, I had already decided that I would not have gone for testing.  I didn't want to know!  I thought I could some how bring cancer upon myself.  Ah, the irony.

Now I say, "bring it on!" I would like to know that there's nothing I did and nothing I didn't do that resulting in my having breast cancer at 31, because I'm driving myself crazy worrying if I ate too much ramen noodles or should have worn gloves when washing dishes or shouldn't have reheated leftovers in plastic containers.

The genetic counselor went on to explain that employers and health insurance companies cannot legally discriminate based on a positive BRCA gene mutation test...but life insurance policies can.  It's debatable how much my husband and I really need life insurance (ah, the luxuries of having and making no money) and it's questionable whether we could even get life insurance with my diagnosis. But that door will be firmly closed if I test positive for a BRCA gene mutation, so I'm going to see if we can get a policy that will cover our meager needs and then go for testing.

For the genetic testing, all I have to do is call ahead and say I'm coming, and then they'll either take a blood sample or do a cheek swab (cheek swab all the way!!) and in 2-3 weeks I'll have my answer.  Or, if it's negative, I won't have my answer.

The test itself is about $3500, but most insurance companies will cover it.  The one company that does the testing (they have a monopoly and can charge whatever they like) will first see what your insurance will cover, and if your part exceeds $350 I think it is, then they'll call and get your consent before moving forward with the testing.

My oncologic surgeon has explained that if I do test positive, the only thing that changes is the timing of cancer prevention. Since my breasts have demonstrated the ability to produce cancer, my right breast's days are numbered anyways, but if I have a BRCA gene mutation then "Rightie" will definitely be removed by the time I'm 40.  I had an ovary removed two years ago due to a dermoid cyst (as devastating as it was to lose an ovary at 29, that's a pretty awesome reason!  It even had teeth!!), so again if I test positive, then my one remaining ovary will be removed once I'm done with it.

I found genetic counseling to be empowering.  Instead of all this stuff happening TO me, I finally get to make a decision about my health moving forward.  Definitely check it out!