After working as a genetic counselor for five years, I assumed I was prepared to have genetic testing and to receive unexpected results. I’m still surprised how wrong I was.
I’m Canadian, but I’ve worked in the U.S. for two years. During that time, my mom was diagnosed with breast cancer. Her situation seemed typical. She was 60 years old and Ashkenazi Jewish. Being Ashkenazi seemed like her only risk factor. For this reason, she had genetic testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations, with the hope and hypothesis that she and our family would gain comfort from a negative result. Her result was indeed negative. She was relieved and shared that she would have felt guilty if she had known she could have passed on a mutation to her children.
I was comforted by her result, but I also knew that she would have been offered more extensive testing had she been in the U.S. I was torn between two roles -as a genetic counselor, I wanted to discuss comprehensive testing with her; as her daughter, I wanted her to feel happy with her result. To resolve this conflict, I decided to have multigene panel testing. My assumption was that my result would also be negative, and I would be reassured by the lack of a mutation.
I was shocked to learn that I have a CHEK2 mutation. This result didn’t fit with my family history which, beyond my mother’s diagnosis, was significant only for my maternal grandmother with bile duct cancer at age 65. I felt disbelief. I regretted doing the test. My largest immediate concern though was how I was going to tell my family.
My family is close. I knew I could tell them, but I did not want to. I was not prepared to instill in them new worries. I knew it was my responsibility to disclose this information, but realizing I had to share the result made me question why I had ever opened this can of worms.
I assumed I would know how to disclose the result because I’m a genetic counselor, and I didn’t plan what to say ahead of time. That was a mistake. My concerns for my family interfered with sharing information. Unfortunately, my disclosure was messy and emotional. I was surprised. If I was struggling this much as a cancer genetic counselor, how hard must this process be for everyone else?
When we confirmed that my mom had the CHEK2 mutation, I had so many questions: Did I force this knowledge upon her? Was this why she got cancer? Would she get another? Should she have had a double mastectomy? Why didn’t her genetic counselor offer more testing? My mom said she was glad to have the information as it will encourage her to be as healthy as possible. But she was also sad and worried, and she felt guilty for passing the mutation to me.
Every time CHEK2 comes up in conversation in my family, I feel anger and stress. I’m mad that I had to add a new stressor into our lives. Disclosure is an ongoing process, and there always will be challenging conversations that arise.
As a genetic counselor, I now delve deeper with patients about disclosure. I share my experience of how positive results can impact family dynamics, making people feel vulnerable, guilty, and pushed into thinking unwelcome thoughts. I have learned the hard way to encourage patients to discuss testing with their loved ones before proceeding.
I now have a better understanding of what finding a mutation means. I believe in the value of genetic testing, but I acknowledge its complexity, and I understand the desire many patients have to go back to a time before being tested. The family implications are endless. Testing is beneficial for many reasons, but when a mutation is found, I truly appreciate the many challenges it may create within a family, no matter how close the family.