When I left home in August 2019, full of excitement to begin training to become a genetic counselor, I didn’t know a pandemic would prevent my return until I’d already completed my transition to “real” genetic counselor. On my recent trip home, many people suddenly shared genetics-related experiences with me after hearing that I was now a genetic counselor. People I have known my whole life opened up and shared intimate details about their history after hearing of my new job. Pediatric dystonia diagnoses, learning of their recent positive BRCA2 mutation status, amniocentesis experiences during pregnancy due to concern for aneuploidy, family histories of tumor types I had never heard of — the list goes on. I was shocked, not only by the openness of my loved ones, but also by the fact that I had never known any of this.
During my training program, I learned that people frequently do not discuss genetic diagnoses among families and friends, and it was only after I came home that I realized just how much this rings true. So many people are impacted by genetic diagnoses or have experience with genetic testing indications. However, even among my family and friends, I was uncovering information I hadn’t known. This begs the question: why now?
Many people choose not to discuss medical information outside of their inner circles, and some don’t share it with anyone, leaving many patients to manage their medical care alone. One of my patients shared with me that her father passed from cancer, however she and her relatives were unaware of his cancer history until an autopsy was performed. With her father unavailable for evaluation, my patient was offered genetic testing and ultimately diagnosed with Lynch syndrome. To me, this experience underscores the stigma surrounding communication of medical information in general, not just in genetics, and the importance of the role genetic counselors play in encouraging families to share with one another.
As genetic counselors, we are responsible for direct patient care, but our role extends into public health. As the adage goes, the family is the patient. After my trip home, I started incorporating more discussions about sharing medical information with loved ones. Perhaps by encouraging patients to speak about and understand a new diagnosis or genetic testing, we can collaborate with our patients and work to break down this stigma.
People want to talk about genetics or medical information with someone who understands. We work to create this space in clinic with our patients; but, ultimately, we also play an important role in empowering our patients to have these discussions on their own by encouraging them to create similar spaces within their families. The more I speak with patients and people in my personal life, the more compelled I feel to help them become an advocate for themselves and their family. Hopefully, they feel empowered to talk with others about health information when appropriate to alter this cycle and promote more open discussions. I feel strongly that more open discourse among families and communities can positively change lives.