Genetic Testing's Impact on Patients, Survivors and Previvors

Do I seem preoccupied? Here is why. When I first got breast cancer seven years ago, I was reassured that I had a "garden variety" of breast cancer "caught early" on a routine mammogram. When or if you discover you have cancer, you quickly learn to hope that it is the "routine" kind of cancer that "they" (the doctors) know how to treat.

Now enter ever-expanding genetic testing. It is like being thrown a curve ball. Or maybe it is more like trying to hit a baseball in the dark or ski on a slope on a cloudy gray day that makes the ground appear flat when it really is not.

My "garden variety" of breast cancer now turns out to be the "rare" PALB2 genetic abnormality. Not to mention, my mom recently passed away in her 80s from metastatic breast cancer. The geneticist recommended letting others in my family know about my mutation for their own health. For me, she recommended monitoring every six months or considering a prophylactic double mastectomy. My choice is to have a double prophylactic mastectomy. It feels like a strange situation to find myself in, seven years after beating breast cancer once already. Nothing has changed except my knowledge — a 15 percent chance of recurrence may actually be a 30 to 60 percent chance in my particular case.

What happens when what we learn races ahead of what we know? We have learned that there are lots of newly discovered genes that impact the risk of cancer, in my case, breast cancer. What we are less knowledgeable about is how that added information impacts treatment protocols and decisions. The long-term research isn't there yet for many of these "newer" genes.

As the patient, now the survivor, what does that mean? How do I decide what to do? How do I share this with my family and friends? I have an ethical responsibility to share this information with family who may also have the mutation. I did that. It was the responsible thing to do, but I also felt like I was being kind of mean. Misery does not really want company, at least not company derived by giving health worry and uncertainty to others, especially people you love, like your own children.

I don't know what my family will do with the information. To get genetic testing or to not get genetic testing? That is a choice each of them will make individually. I hope they choose testing. The results may provide some mental relief if they don't have the faulty gene, or it may provide them with the opportunity to be proactive so that cancer is either caught early or prevented from occurring in the first place.

I remember that my genetic counselor cautioned me before I decided on testing, to consider whether or not I would be willing to act on any results found. Someone has already shared with me that she would not choose a double prophylactic mastectomy. I respect her choice and it is not my choice. I wasn't sure how to respond. Others have said they don't know what they would do in my shoes, and still others have said they would get the double mastectomy if they were in my shoes.

The choices are different for everyone, but I wish there was more support and data for all of us. Genetic testing could impact so many life decisions, like what type of life choices we make, what child-bearing choices we make and how we "get comfortable" as patients and cancer survivors living with these new genetic mutations and trying to process this new information.