Four years ago I traveled to Mayo Clinic in Rochester, Minnesota to meet with a geneticist to help my family decide if my mother should be tested for the BRCA1 and BRCA2 gene mutations. Too many red flags “screaming suspicion” had been raised. Other members of my family were there as well. We crammed our folding chairs into the small stuffy room, clearly not intended for so many people at once, and listened attentively and somewhat nervously to a potentially life-changing biology lesson that day.
Detailed information about our family tree was meticulously gathered and recorded as if we were a family of worldly importance. Books, pamphlets and diagrams were then carefully presented and explained to us in an effort to clarify the potential secrets of our DNA. The whole discussion had a very serious air about it and clearly there was a definite protocol to follow.
You have to know what you are getting in for if you decide to pursue genetic testing. In other words, you have to live with the results.
Two weeks later my mother’s test came back positive for the BRCA2 gene mutation and the focus of her attention shifted from herself to my siblings and me. Suddenly she became obsessed with convincing us to be tested as well. At that time I had little interest in being tested. I wanted more time to think about it. I rarely rush into anything. I’m the kind of person who likes to “mull” things over and I thought I had plenty of time to do that. I was wrong.
Following my diagnosis last spring I felt backed into a corner. Not being one to “beat around the bush,” my oncologist clearly presented my options. If I, too, tested positive for the BRCA2 mutation, a bilateral mastectomy was the only reasonable route to take in his opinion. If I didn’t choose that path, statistically the chance of recurrence within five years would be too high. On the other hand if I tested negative, a lumpectomy could be a logical option. Suddenly much was riding on my DNA. Cancer didn’t allow me the luxury of “mulling over” my decisions.
The obvious next step was to get the blood test I never wanted and wait for the results to come in.
Genetic testing is still a new frontier; we are just beginning to uncover secrets of DNA. More importantly, science is just figuring out what to DO with those secrets once they are discovered. Just knowing you have some mutated gene isn’t important if there is nothing for you to do with that information.
Not surprisingly, my thoughts about genetic testing have also changed since my diagnosis. I’m not sorry I waited to be tested. I wasn’t ready. But I am definitely very glad I was tested after my diagnosis. The impact the result of that test had on my decisions about my cancer treatment was huge.
I now believe a person should seriously consider having a genetic test if red flags are raised indicating “too many” cancer cases in their family. Your doctor should be able to help you with this decision.
IF YOU ARE THINKING ABOUT GENETIC TESTING, YOU SHOULD FIRST CONSIDER:
1. Do you REALLY want to know the answer or information? This sounds pretty obvious, but it’s not; once the knowledge is out you can’t “put it back in the bottle.” You must live with it.
2. If you test positive, what will you DO with the results?
I worry the cost of genetic testing is prohibitive to many. I worry about the monopoly one genetic testing company has on some of these tests, but those are posts for another day. I’ll definitely have more to say on this topic later.
An excellent resource on this topic is: www.cancer.gov/cancertopics/factsheet/Risk/BRCA
HAVE YOU CONSIDERED (OR WOULD YOU CONSIDER) GENETIC TESTING?