The Big Day: Genetic Test Results
Today was the big day: getting the results of my genetic testing.
The director of genetic counseling and a physician on staff met with me to discuss the results. Without making me wait for any disclaimers, they gave me the genetic report showing that I tested negative for BRCA1 and BRCA2 gene mutations.
Yay! Except...wait, what does that really mean to me?
I confessed to them that, to be honest, the best case scenario in my head was that I would test as positive (explaining my breast cancer and family history) and my siblings would test as negative (meaning they aren't at high risk). That would make sense AND comfort me. But a negative test result doesn't tell me much of anything, given that my mother, grandmother, and great-grandmother all had breast cancer, too.
They said that they were equally confused. In fact, they brought my case to the tumor board (a multi-disciplinary cancer board that reviews cases and makes recommendations). The general agreement is that my family history cannot be a coincidence. There is a genetic component at work, only it appears to be an unidentified one.
Based on this, they are treating me similarly to someone who is positive, in that my female relatives need to be screen younger than usual for breast and ovarian cancers. But that doesn't mean the research stops here, because they want me to continue researching my mother's genealogy to get more information on the women who had cancer and to follow other branches of the family (like, my grandmother's siblings). If I can find another living woman in this genetic line who has survived breast or ovarian cancer, we can enter a genetic study to try to identify our family mutation. For example, they can compare our blood to try to find what we might share that makes us vulnerable to cancer.
(If my mother was alive, she would love this part, what with all the genealogical research. Come to think of it, if my mother was alive, she could join the study with me and we wouldn't have to do all this.)
Of course, at this point, finding the mutation is of little use to me, but it is of use to my female relatives, including nieces, so it's important. I'd rather we know what's going on and who is at higher risk. It would be my dream to find out the mutation I have and then discovered that neither my brother nor my sister inherited it, so it stops here.
I find it curious that the women in my family tend to survive breast cancer once they get it. This is true even of my great-grandmother who was treated in the early 1930s, when the only option was surgery. The physician said that he felt this survival tendency may also indicate something genetic. After all, not all genetic mutations mean the same thing. Variants of a gene promoter known as CDKN2A raise the risk melanoma and breast cancer-but apparently not ovarian cancer. It's not inconceivable that there could be something about our family genetic profile that makes us more inclined to survive breast cancer.
Before leaving, I had a chance to talk to the director for a bit about what she does. I am now wishing I knew about genetic counseling years ago, because I would have loved this kind of work, blending science with helping people. In addition to her work keeping up on the research and counseling patients, she ends up researching and building family trees. Along the way, she sometimes finds out cool things about a patients family history that they did not know themselves. It sounds like a very cool job. Well, I promise myself that if I suddenly wake up and find that it's 1986 and the past 20 years were a dream, I will definitely go back to school to become a genetic counselor. Yeah, that's it.
Okay, glad I got that worked out.
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