A few weeks ago, as I departed from my Semi-Annual Urologic Oncology follow up, I was approached by one of their interns to discuss the possibility of redoing a full panel of Genetic Testing. The panel would include all possible mutations including cancerous and non-cancerous.
At first, I was a little taken aback by the request since I knew that the BRCA2 mutation caused my male breast cancer diagnosis in 2008 and my subsequent prostate cancer in 2010. Since I have spent the last 15 years advocating that everyone should know their genetics and family history and how it affects their health, I immediately agreed to “practice what I preach”.
Like any medical testing, I was apprehensive about what other mutations might show up? With two cancers in my past, I partake in constant surveillance and testing. How much more time and “scanxiety” am I going to have to endure depending on what results are provided? Why am I doing this to myself and potentially my family?
City of Hope was conducting this 100% free of charge for me. It was a new clinical trial to provide even more clarity to the huge amount of genetic mutation advancements we have made over the past 20 years. Almost every day, we are discovering new genetic mutations and with each discovery we not only move closer to preventing personal cancers, but we also make advancements in the treatment for existing cancers. Parp Inhibitors (Which repair mutations) for BRCA cancers are a perfect example of this. From Parp research we are in stage one clinical trial working toward a vaccine, to prevent this type of genetic cancer. That would be amazing and is now within reach!
Approximately three weeks later, I received a notice in “MY CHART”, that I had a new test result. Most of us patients know this procedure and how hesitantly we approach viewing those results. Is my life now going to change dramatically… again?
I will not go too in-depth here about my results. I did view the results and did have some new information. Within a couple of hours, the genetic counselor reached out to me to provide additional comprehension about what I was seeing. Of course, it identified the “pathogenic” variant BRCA2, which I obviously knew about. It didn’t GO AWAY! It never will go away. What I didn’t expect was seeing two additional variants. I immediately started to research the other variants. Once the genetic counselor reached out to me and explained that the other variants existed but were not “Pathogenic,” I felt some relief. They exist but are unlikely to cause any issues. They just don’t know enough about them yet. I still need to be on alert and amplify any significant changes in my body or functions. The more “in-tune” you are with your own body, the more alert you can be to significant changes.
Was it worth any stress it may have caused me to go through this again? ABSOLUTELY! Knowledge is power. Understanding any potential issues, for me, is critical. Many people choose to live in denial or without knowing. If you can accomplish that and NOT run into any complications, great for you. I recently had a family member who had known there was a mutation and didn’t screen effectively. Now, they have been recently diagnosed with an aggressive cancer caused by the mutation.
The science of genetic mutation discovery is changing daily. How we screen and treat these mutations is also changing daily. If it’s been more than 10 years, you may want to consider a new complete panel. If you have never had genetic testing and there’s any family history of cancer, I would highly recommend you find a CGC (Certified Genetic Counselor) and pursue some testing.
Keep in mind that the discovery of any genetic mutation doesn’t mean that you WILL get Cancer. It doesn’t mean that you must spend your life worrying about what “could” potentially occur. But it’s NOT JUST ABOUT YOU! It’s about your children, your siblings, your cousins and even your parents if they’re still around.
KNOWLEDGE IS POWER! If you don’t want to utilize this power, please consider the rest of your family. They may want to know. As we at HIS BCA say, “Pay it Forward”!
It’s inspiring to see how proactive you’ve been about your health and advocating for genetic testing. I completely agree — knowing your family history and genetics is so important, not just for yourself but for your loved ones too. With its simple controls and dynamic gameplay, Tunnel Rush offers a thrilling and reflex-testing challenge that keeps players coming back for more.