My paternal grandmother died of pancreatic cancer when I was 10 years old. She had been the primary caregiver for her husband, my Pap, who had been diagnosed with Parkinson’s disease and dementia years prior. After her sudden passing, my family, and the families of my three uncles all took turns caring for my Pap in his home until his death two years later.

The experience of spending those evenings with my Pap ended up being formative for me and played a role in developing my lifelong interest in neurology. My eventual career as a neurogenetic counselor allowed me to meet with families navigating neurodegenerative diseases.

It wasn’t until I was in grad school, that the other half of that story came back into play. In my hereditary cancer course, I learned that a second-degree relative with pancreatic cancer was enough criteria to qualify for genetic testing. This inspired me to do some digging and I found out that I had an extensive paternal history of cancer. My grandmother had three sisters with breast cancer, a brother with rectal cancer, and a brother with kidney cancer. I spoke with my dad about his family history, and he was open to testing, but too busy with work to make an appointment.

I wrestled with this in my mind for a few years and then this past winter I decided it was time to get tested myself. I was quite surprised when the results came back positive for a pathogenic variant in the BRCA1 gene. This was big news, but I had known it was a possibility when I initiated the testing. Mainly, I felt satisfied to have figured out the cause of the cancer history in my family and to now have the power to help myself and my relatives consider preventative options.

You can imagine my shock when parental testing revealed I had inherited this variant from my mother. It didn’t make any sense. She is in her 50s, with no personal history of cancer and no striking cancer history in close relatives. I thought my genetics background had prepared me to handle genetic testing results, but in that moment, I was blindsided.

I’ve experienced many highs and lows throughout this process and learned that psychological adaptation is not a one-time event. At first, I threw myself into this new identity. I signed up to volunteer with a hereditary cancer advocacy organization. I became a member of multiple online support forums. I quickly disseminated the information to my family members and helped facilitate their cascade testing. I signed up for an ancestry.com account to try to locate distant at-risk relatives.

Once the initial adrenaline wore off, I was left staring down the rest of my life with more questions than answers. How high are my cancer risks really in the context of my ambiguous family history? Am I possibly doing more harm than good by starting screening that frequently results in false positives? Should I consider PGT when I’m ready to start my family and is it irresponsible not to?

While I have only been on my hereditary cancer journey for a relatively short time, it didn’t take long to notice the barriers and challenges individuals face while trying to seek appropriate care. I feel infinitely privileged to be a genetic counselor and have the background knowledge that allows me to navigate both hereditary cancer and the medical system at-large. I am also privileged in several other ways, including but not limited to being white, straight-passing, able-bodied, insured through my employer, and located near a large medical center where I can easily access preventative screenings. Every barrier I encounter in seeking appropriate care for myself and my family is only a reminder of the challenges our patients face after receiving a positive test result.

For us as genetic counselors, calling out a result might be the last thing to check off on a Friday to-do list. For the patient, it is only the start of the rest of their life. Although I understood this logically prior to my diagnosis, I now counsel patients with a much deeper sense of empathy. When patients respond in seemingly unreasonable or potentially frustrating ways, I find it easier to reframe the situation from their perspective, assume positive intent, and become less defensive of my own ego. As I continue to incorporate my BRCA1-positive status as a part of my identity, I’ve reaffirmed my belief in genetic knowledge as a powerful resource, not only for my own family, but for all patients I serve.

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