It is a dreary day. The sky is gray and cloudy. It has threatened rain for several hours but the rain hasn’t come. I am taking a rare day off. I am surfing the couch, snacking on home baked cookies, and streaming movies. Though today was meant to be a day without work, I am committed to writing and am taking a break from relaxing to think about why I chose genetic testing after cancer.
Two years before I was diagnosed with breast cancer, I had a scare. This was not even my first scare, it was my second. Third time is a charm in my case but that is the stuff of another story. For some reason my scares always came in the summer and one sweltering July morning during my monthly breast exam I found a lump.
The next days and weeks were a flurry of activity. I was a young physician and already had one (benign) excisional breast biopsy under my belt. I was only 37. Multiple doctors’ appointments followed as did referrals to the cancer center, a mammogram, and an ultrasound. Within weeks (and with great relief) I was diagnosed with two benign simple cysts. Still, given my risk factors and previous biopsy I was placed in the high risk breast clinic.
Looking back these simple cysts likely saved my life and certainly saved me from developing an advanced cancer. As part of my workup, I received my first round of DNA-based genetic testing. My management also included mammograms every September, and MRIs every March. A mere two years later I would be diagnosed with breast cancer on my September screening mammogram.
But today we are talking about genetic testing. My initial DNA genetic testing determined that I had a 0.3% chance of getting cancer in the following 5 years, a risk profile less than that of the general population. I had no BRCA genes and no genes linked to ovarian or colon cancer. I walked away feeling relieved but also feeling like there was a storm on the horizon.
Now, a mere three years later, I have gotten cancer, lost both my breasts, been reconstructed, beaten cancer, and started rebuilding life. Wow. So much for a 0.3% chance.
I have to admit going back through those results leaves me feeling kind of angry. Angry at what, I wonder. Why angry? That my cancer was truly a lightening strike? That the genetic testing lied to me? That the world is just plain unfair? I don’t really know, but every time I see those numbers printed on the results report anger bubbles to the surface and I am again reliving my dozens of visits to the cancer center.
After the completion of my cancer treatment, I was given the opportunity to rescreen using a newly developed RNA screening method. Genetic testing is a field that is growing at lightening speed and in the three years since my first round of DNA testing, technology has improved and new genes have been discovered.
During my genetic counseling session, I met with a pleasant woman who discussed the risks and benefits of testing including that some people find knowing about abnormal genes a source of anxiety or fear.
She explained that genetic testing could not be used against me when applying for life insurance, disability insurance, or health insurance. But warned laws may change and the future implications of testing are unpredictable.
This risk was a moot point. With my history of cancer I am now practically uninsurable. Should I ever be forced to get private health insurance my premiums would be over $1000 a month for catastrophic coverage. It should be illegal to use pre-existing conditions against someone. It is not, and that is just one more difficult part of life after cancer, but I digress.
She also explained that RNA testing is new, and is therefore not covered by insurance. I was informed the new round of testing would cost $250, a large sum when you are out of work and struggling to make ends meet. I was faced with a difficult decision. Do I take the pricey genetic RNA testing or do I pass on testing and accept the “not knowing”.
I turned it over in my head for several days before I made the choice. It was a lot of money to pay at a time when I didn’t have much to spare. Still, ultimately I decided to take the RNA tests for three reasons.
For My Family
My breast cancer diagnosis at the age of 39 was hard on my family. Not only did they have to see my suffering, but it also had major implications for their own health. I do not have children and at this point do not plan to have them, so my genetic profile was more to gauge the genetic risks for my existing family members. Could my brother or cousins be at risk of cancer at a young age? Do they need to start cancer screening earlier than the general population? Are they next?
I wanted to, if possible, ease their minds or at the very least give them the opportunity to start early screening or cancer prevention programs. I would do anything to help the ones I love and in this case that meant paying the money and figuring out whether my diagnosis would be a genetic risk to them.
Prevention, Prevention, Prevention
Preventative care is key. My high-risk breast cancer screening program saved my life. We caught my cancer at early stage 1 with less than 1mm of microinvasion. At that early stage, there was no lump. It would have been impossible for me to find the cancer on a self-breast exam.
Without the aggressive screening and preventative care program my cancer would have been caught at a much later stage. I certainly would have had to have chemotherapy, something I was able to avoid with my early stage diagnosis.
Knowing my genetic profile would allow me to better plan my future care and make sure that I got the best screening tests possible for whatever future cancers I may be at risk for.
Knowing Is Better Than Not Knowing
One thing cancer has taught me is knowing is much better than not knowing. I have found that, at least for me, the fear of what may be is worse than the actuality of it. After my biopsy, the wait for The Call was absolute agony, but once I knew I had cancer at least I could start taking action.
In the same way, the days waiting to find out when my mastectomy was scheduled were some of the very worst days of my life, but once the mastectomy was on the books, I could focus on getting prepared.
It is the same with genetic testing. The fear of the unknown is worse than any news I could receive. Bad news will allow me to take action and prepare. The unknown does not allow for action or resolution, and both are things I crave.
I Wanted To Leave No Stone Unturned
I wanted to be complete in my cancer work-up and make sure I did absolutely everything I possibly could to gain information and protect myself from unexpected future health surprises.
Cancer has taught me that life is unpredictable and we are not in control. I can not predict or control if the cancer is going to come back or if I will get another cancer, but if I do, I want to have the peace of mind knowing that I did absolutely everything in my power to prevent it.
The Results
In the end, I chose to pay the money and get the RNA testing. It came back negative for any abnormalities and once again I was informed my cancer risk matches that of the general population.
Both my DNA and RNA profiles suggested my cancer is a unique or novel mutation and is not a risk to my family (at least according our current level of understanding of cancer genetics). This knowledge greatly relieved my brother and cousins, and for this I am glad.
But for me, it changes nothing. I still had cancer. I am still at risk of recurrence. With a novel mutation like mine anything could be on the table in the future and any number of unexpected cancers or health problems could occur. This is just something I must learn to live with. And the knowing is truly better than not knowing.
Each survivor must make their own decisions regarding genetic testing. I can understand why some may choose not to know. There is no right answer.
But in my case, I am glad I got the testing and if new tests become available in the future I will take them as well. Who knows what the future may hold but in the meantime, I can rest assured that I have done everything I can to gain knowledge and keep myself healthy. And for now, that is enough.
