Genetic Counseling

I think the first thing that must be said about BRCA testing is that I sat with a social worker who specialized in the potential emotion impact of the results of genetic testing. Even though I already had a cancer diagnosis, had I tested positive for the gene, I would now have my daughter with a burden over HER head. To test or not. And when? I had enough of a family cluster of disease from a fairly detailed pedigree. I made all my treatment choices before I even got the results.

When the test came back with mutations of unknown significance on BOTH BRCA1 and BRCA2 I was stunned. Immediately, my mom was tested and she tested completely clean. She was the one with the first breast cancer but NO mutations. I sat with the social worker and the head of genetics to review the results and what they meant. He explained how "a mutation starts somewhere" so I could have inherited from my dad or I could simply be the first person with that particular mutation.

I remember how weird it was to see the results because they were so detailed (stuff I do not remotely understand) but what struck me was the fact that they indicated the number of times they had previously seen the mutation and why they couldn't classify them as "cancer causing genes" ..... and they also couldn't classify them as harmless either. One of them was seen seven times before me. The other one, they never saw before. I was the first. Last year, my youngest sister was dx'd with DCIS right on her chest wall. She tested for the gene and she was clean on one but matched the other one..... obviously came from dad.

It's a little frustrating to have a test done and basically be told, it could be something, it could be nothing or because of the family cluster of disease, it could be a gene not yet identified. Because I had been counseled through all of these scenarios, I was okay with still having no answer.

I know that I will be notified once these genes are classified and hopefully, both of them will be harmless so my daughter is off the BRCA hook. Unfortunately, she is still a "previvor" because of my family cluster.

A bit confusing to answer, but then that's exactly what the results were.... they took an entire page filled with four paragraphs to say, "we don't know" .... Since I tend to be the wordy one, every once in a while it will cross my mind and I'll laugh. Sometimes, you just gotta laugh.

When you've watched every other woman in your family be diagnosed with and treated for breast cancer, you just know that your risk is not average or random. Despite that, it took a good deal of time and insistence on my part to convince my siblings to undergo testing with me. Ultimately, 5 out of 7 of us (including me) were confirmed to be BRCA2 carriers. We all respond differently. Some of my siblings just didn't want to know.

The genetic counseling sessions I attended were very thorough and very helpful. We discussed and diagrammed out my family tree in great depth. There was a lot of discussion about that. Then the topic of genes/DNA was covered pretty well I'd say. I felt like I was in a crash course in a high school or college genetics class! There was a lot of time for discussion and questions. I was very pleased with the counseling opportunity and I would highly recommend seeing a genetic counselor if you are thinking about testing. While I did get the impression they were very pro-testing, they also respected my opinions and decisions about going through with testing or not. I'm not sure if you can even have genetic testing done without counseling first. It's a very important component.

I attended genetic counseling sessions with my mother, father and two siblings at Mayo Clinic in Rochester, MN. After those meetings, my mother decided to be tested and it turned out she was BRCA2 positive. She was already two years into her cancer, however, so her initial treatment had already ended. She found out too late actually in hind sight. Immediately after that, doctors there recommended that I get tested as well, although they didn't actually come out and say that...it's a very personal decision. Like I mentioned before, I thought I had a little more time to think things over, but cancer doesn't always follow "the plan."

My mother was determined to be BRCA2 positive after her cancer diagnosis, so I knew I was at risk for being positive as well. While in the process of deciding if I wanted to be tested for the mutation, I was diagnosed with breast cancer myself. My oncologist highly recommended the test to determine my treatment path. This added a few weeks to the "waiting" time before my surgery, but knowing the outcome of the test was critical for determining my treatment plan. Of course, I did indeed also test postitive for the BRCA2 gene mutation. I also blog about BRCA at www.nancyspoint.com