6/11/18 – TESTS:
So after both doctors telling me to get generic testing and a delay in getting in to see the genetic counselor… I finally had my appointment. It was super confusing if insurance was covering the test. I called the insurance company – they said I needed a referral. So I asked the Dr. and they said the counselor provides it. The counselor said she checked and it was covered or the testing company wouldn’t charge me. Either way it was confusing. The Genetic Counselor scheduled an hour, which I was unclear on why – I figured they would draw some blood and call it a day. I found out that we needed to map my family; I even got a cool chart out of it to add to my tools and templates! She started the meeting by asking, “what do you know” and I gave her my summary:
- They are looking for the BRCA Gene 1 and 2 (which stands for BReast CAncer Gene)
- If I am positive for them, it won’t affect my treatment as I’m already going with a double mastectomy
- With some of the genes there is an increased risk of ovarian cancer, so then thinking about removing lady parts would be a discussion – I’m really hoping that isn’t the case – I’m done having children so that’s not an issue, but if you do have them removed you have to take hormones and I’d like to escape this without long term meds
- The tests will be informational for Grace. From my perspective, she is high risk either way (if I have the gene or not) and she may not have the gene and still she’s high risk.
- One thing that does concern me about genetic testing is discrimination – there’s always potential for insurance companies to discriminate. Now there are some laws against this, but in the back of my mind sometimes less information is better
During the meeting, I ended up calling my parents on conference to get some family details. There is some skin cancer, colon cancer and thyroid cancer in the family, and maybe a great aunt had breast cancer, but no direct family history of Breast Cancer. The counselor decided to do the regular gene panel which tests for the common genetic issues. She offered me one of two ways to collect my DNA – spit or blood. She said they could just draw extra blood from my port on Friday, but i chose the spit option. Now this sounds easy, until you have to fill a tube with spit under pressure. It was dry mouth – I just couldn’t perform. Luckily she gave me some tips – rub your neck, swish, and smell chocolate (she had on the desk). I eventually got it done but it was a nail bitter.
6/25/18 – RESULTS:
The genetic counselor called to say she has the results. They tested 34 genes. I was on vacation when she called so I told her I didn’t want any bad results on vacation, she kind of mentioned they were OK, so I then needed to hear them. Overall they didn’t show any conclusive genetic issues which caused the cancer. This means no change to my course of treatment based on the results or as they say, “not clinically actionable.” Details:
- 3 genetic variants of “unknown significance” found:
- BRCA2 – Breast Cancer – she mentioned that normally BRCA1 is normally more linked to TNBC and young patients, so the BRCA2 showing as inconsistent was less concerning. Either way we’re already aggressively treating with Chemo, Double Mastectomy and Radiation. Based on this we would not make any aggressive moves with a hysterectomy but I will share the results with my OBG.
- MLH1 & MUTYH – sometimes associated with Colon Cancer – she mentioned these are less concerning because for them to be associated with cancer another gene (I was negative for) needs to be found. With that we do have colon cancer in the family so being vigilant about this is important either way
- What does “unknown significance” mean?
- My understanding is that they don’t currently know if theses are associated or not with cancer. As they keep testing and learning more they may come back with an update on if my genes are associated with cancer. The counselor said they normally come back as negative. She said to call yearly to see if any new data is found.
So with these results it’s good to hear I’m not at risk for any other other genetic mutations or cancer associations.