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Sep 9, 2019 11:07PM
Just got my test results back to day. Having very mixed feelings about the experience. I am 45 and do not have BC. My mom had trip-neg at 42...survived and thrived. Her cancer seems isolated to her...she has 9 aunts and 5 sisters....no cancer of any kind in anyone anywhere, male or female.
Her results were negative, but my doc wanted me to test anyway, in case I inherited something from my dad's side. (No BC there either, nor ovarian, or prostate.)
When I got my results, it showed I am a heterozygous carrier of the MUTYH mutation....giving me a slightly increased risk of colon cancer. My paternal grandmother had colon cancer at 75 (she outlived it), and I was already planning to have regular colonoscopies....
Anyway, what I'm conflicted about is that I realized after the fact that I had absolutely no idea what all this doctor was testing me for. I thought just BC mutations. He did not counsel me at all.
When I asked him, I found out that he had actually run a test on 81 different cancer-susceptibility mutations...most of which have no bearing on BC risk, and some for which there is no actionable risk reduction.
I told him I was a little shocked, and I felt totally unprepared for that level of insight into my genetic risk profile. He told me that "we did talk about this"...but I assure you, we did not. He simply said "you should be tested." I have never spent more than 10 minutes with this man at any appointment. I assumed, (bad on me) that since he was a BREAST doctor, he would be testing for BC mutations.
We got into it a bit...he got pretty defensive, and insisted that EVERYONE should know as much as they possibly can about risks. I told him there are quality of life issues with knowing too much, particularly with mutations in which the implications are still poorly understood. I This can create unnecessary angst in some people. At the very least, we need to understand what box we are opening up.
He told me that being dead was a pretty poor quality of life.
Anyway, I felt that I was woefully unprepared for the implications of such a comprehensive test. I am thankful that it didn't turn up an even more nefarious mutation for which there is no risk prevention. Colon cancer is pretty straight forward.
I also am kind of mad at myself for not asking more questions, and just going with the doctor's recommendation to test. I'm not sure where the responsibly lies...on me or the doctor.
I'd like to know if others felt mentally and emotionally prepared for the potential implications of their testing, and if anyone else was subjected to such a comprehensive test? Is this the new standard of care? To test for everything?