Genetic Counseling and Testing – What is That?

Going in for genetic counseling (for cancer) means that you are meeting with a genetic councelor to discuss your family history of cancer and based on your type of cancer, if it makes sense (and you want to) to test for a genetic mutation. Mutation, let’s that mull for a bit… I wish that could be something cool like X-Men. And then I have some sort of super power, instead of the power not to fight cancer.

Within each of our cells it contains 23 pair of chromosomes (46 total). Each chromosome contains hundreds or thousands of genes. Of each pair of chromosomes, we inherit one from each of our biological parents. So when talking about genetic testing, it is testing to see if there is an absence of a gene (so a positive result actually means you are missing that gene on one of your chromosomes). Our bodies contain natural cancer fighting genes, and if we are missing one of those, it makes us more susceptible to cancer. It does not mean that you will get cancer, only that you are at a higher risk for developing certain types of cancer. I could also very well not have a mutation and still have cancer.

So here’s how it went on Monday. I met with a wonderful woman today who is a Genetic’s Counselor at UVA. First she gave me an overview of what we would discuss. Then we went through my family history, looking for cancer. She drew a diagram as we went through each relative, branching from my kids, parents, aunts, uncles and grandparents. Then if there were any other relatives that had breast cancer. There is cancer on mom’s side of the family. My great-grandfather died of lung cancer, but he smoked a pipe most of his life (stop smoking people…). My grandfather died of colon cancer when I was a teen. My grandmother was killed in a car wreck when I was three, and she was young. So we are unsure whether she could have had cancer or not. Mom and Dad are all clear. And then there is me – breast cancer, diagnosed at age 40 – but pretty sure that damn thing has been growing for years.

Because of my cancer being triple negative and a more aggressive type of cancer with a higher chance of reoccurrence, there was no question in my mind that I wanted to be tested. Because of our family history and many discussions had, I knew when I was in my 20’s that if given the opportunity, I would want to know. Yet again, it is a personal decision for each person. But for me, knowledge is power.

If I have a mutated gene, there won’t be a damn thing I can do about it. However, if I test positive for the BRCA1 or BRCA2 genes (BR = breast, CA = cancer, 1 was the first mutation found, 2 was the second one found), it puts me at a much higher risk for ovarian and other types of cancer. Including pancreatic cancer and melanoma (prostate on men). So out with the ovaries and fallopian tubes if I have that mutation! There are some gray areas too. I could test positive for the absence of a gene that they don’t know much about. But I have no doubt, with all the research being done, that they will soon know so much more.

This is important for me to know, but equally important for 5 other very important people in my life. My kids, my brother and his kids. If I have a genetic mutation, then there is up to a 50% chance that either of my kiddos could too. Same for my brother (but maybe not). We are only talking possibilities here. Depending on what I find out, it will be up to them, and them alone, to decide if they want testing. Pretty sure by the time my kiddos are old enough to even consider, that so much more progress will be made.

Again, to have a genetic mutation does not mean that you are going to get cancer, it just means that you are potentially at a higher risk for developing certain types of cancer. But it is going to be interesting to know. And I’ll find out in two to three weeks!

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  • Reply Saundra Cox March 3, 2015 at 2:34 pm

    Knowledge IS power…. I think you’ve made a very wise decision
    Love and hugs…..

    • Reply Shannon March 3, 2015 at 8:51 pm

      It is! Love you too!

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