'Tis The Season' For Genetic Testing: New, Exciting, Maybe Sometimes Frightening

Some of the biggest advances in cancer research are currently happening in the field of genetics. Genetic testing can be a wild crazy ride with sharp curves, and ups and downs that require thoughtful understanding.

I had genetic testing nine years ago at my initial breast cancer diagnosis and then done again last year, several years after breast cancer and an unrelated melanoma. We had gone looking for two possible mutations nine years ago and now there were nineteen potential mutations to check for a year ago! The issues genetic testing brings up are ongoing, complex, and changing.

Would you want to be the embryo in the petri dish that was not chosen for implantation because of a discovered hereditary genetic mutation? Would you want to shove potential worries onto offspring years ahead of an actual cancer diagnosis, or other health problem, that might never happen? Still, cancer caught early is often more treatable, so if cancer screening tests can happen for people with a genetic predisposition to cancer, that is very encouraging and exciting news.

So, would you consider major surgery before even getting cancer? Would you consider surgery seven years after surviving your cancer? I did. I chose a prophylactic double mastectomy based on updated genetic testing results (my more recently discovered PALB2 mutation) combined with the recommendations of my genetic counselor and my doctors.

Scientists are also finding new genetic cancer mutations all the time, and it raises the question: How often would you retest to screen for the newly discovered mutations that might run in your family? What if some of your family history is unknown or limited? What if your results triggered you to reach out to inform other family members who might also be at risk?

Would genetic testing help you or the ones you love to leapfrog into a safe no-cancer future like I dreamed of during original treatment? I wanted to escape the difficult times and fears that my cancers would come back right away. Who would want to wish away a chunk of their life? Back in those days, I was scared and anxious enough that I did. There are many questions that a genetic counselor can help you navigate both before and after genetic testing.

However, knowledge may or may not provide peace of mind. It may provide more choices, but only if someone is willing to make new decisions to act on that knowledge. I don't have my natural breasts or my ovaries anymore and now my pancreas is being watched. There is both comfort and ongoing anxiety for me. Sometimes getting more time between the diagnosis and you does not provide as much relief as wanted. Heavy sigh.

Breathe, just breathe.

Finally, are you tired of cancer hanging over your head? We are all mortal, but I think sometimes cancer survivors get stressed and weary at having their mortality constantly looming. We are fortunate to have coping tools and resources, and we are fortunate to have genetic testing. We are able to discuss genetic testing with our doctors and with a genetic counselor. I take comfort in the knowledge that all we can do at any moment in time is what we did, and then utilize our coping tools to lift our heads up and move forward. We do this for ourselves and for the people we love.