The Tables Have Turned
I am a second year genetic counseling trainee. As a second year student, I am clinically applying skills I developed through course work, standardized patients, and observations. These skills are part of my counseling toolbox, which allow me to express unconditional positive regard to patient concerns and thoughts, as well as explain complex scientific information and tailor it to each individual patient. The goal of a genetic counseling session is to leave patients feeling empowered and less anxious by talking through their medical concerns, their family’s medical history and what genetic testing may or may not offer them clinically and psychologically. Anyone who is concerned about genetic disease in their family is welcome to visit with a genetic counselor to discuss what this could mean for them. Historically, the most common referrals occur in the prenatal, pediatrics, and cancer settings. We’ve entered a new chapter of genomics, where in virtually all healthcare settings, genetics has the potential to inform patient care and these “traditional” settings have expanded into the cardiology, pulmonology, neurology and psychiatry spaces (obviously there are more, but these are some examples).
The advances that have been made in genomic medicine are exciting, but they come with additional challenges. With the clinical applications of genetic testing expanding, more people are now testing and now have knowledge about their genetic risks for disease. Now what? After I’ve talked about the medical management changes to patient care, I’m met with, “how do I tell my family,” “should I tell my family,” “what do I do?” Talking about your own genetic risks and how they apply to family members is daunting. You did this test to understand yourself better, not necessarily for your family. But nonetheless, this is information that has the potential to impact family members clinically and psychologically.
Often my response to the patients who don’t really know how to share this information with family or if they even want to, is to ask additional questions. My typical questions are: How do you think you’d tell them? Would you like me to be present or do it? Do you want a family letter? This line of questioning is patient centered, which is the type of care I am trained to offer. Now, I am reconsidering this line of questioning because of my own experiences. I should have always been asking, “how do you think your family member will handle this?” Because I sure as hell didn’t handle it well for myself.
This fall I learned that my family harbors a pathogenic variation in the ATM gene. ATM is a gene that is associated with elevated risks for breast and pancreatic cancers. The approximate lifetime risk of breast cancer for someone with a pathogenic variant in ATM is 40% and the approximate risk for pancreatic cancer is 1–10% with the presence of a family history. Because I am a genetic counseling student, who has completed her cancer counseling rotation, I knew that. This was information I shared with patients more than once. It was not new to me. When talking to patients, many have shared that a change in this gene was the best case scenario for them because of the associated risks. Others, this was life changing for them. I was the latter.
Within a Sunday afternoon, my lifetime risk for breast cancer went from 12.5% to 40% and this scared me. When someone has a change in ATM cancer screening doesn’t begin until age 40.That means no mammograms or MRIs until 40, which is sooner than average at age 45. At 23, that meant there are 17 years where I could be silently developing breast cancer without even knowing it. That scared me more.
Trying to apply my genetic counseling education and knowledge to myself was and is hard. I frame pathogenic ATM variants to my patients as moderate risk because that’s what professional guidelines say. Statistically it’s a “glass half full” situation. Emotionally, nothing about what I was and am working through is a “glass half full” situation. When I initially learned about this pathogenic variation, I hopped on the phone to talk to genetic testing companies about preimplantation genetic testing to avoid a pregnancy with this same change. Additionally, I spent time trying to find loopholes to begin my breast cancer screening earlier than what guidelines recommended. I was literally spiraling.
Initially, I cried and coped with dark humor. I found myself literally asking, “why me” out loud. People go their whole lives without knowing what their actual genetic risks for developing cancer are — why did I have to know? So, at this point I did not know. I only knew that ATM existed and that I had a 25% chance of also having it. Now that I knew it existed, I knew that it would kill me to never know if I also carried the pathogenic ATM variation.
I knew I needed a genetic test report with my own name on it.
A week later, I met with a genetic counselor who agreed that I should get testing (for all you GCs who read that, don’t take it literally). Six days later I had a spit kit in the mail and 18 days after that I had a test report. In that window of time, I started asking myself many of the same questions I ask my own patients: How do you think you’ll react to a positive test? What about a negative test? What do you plan to do with this information? To process I journaled a lot. I talked with my genetic counseling friends, Party Time. I talked to my three best friends, Nat, Caro and Taylor. And I became more comfortable with the potential of knowing my genetic risk factors.
Almost 1 month after learning about my family history of ATM, my own genetic counselor called me on the phone. She shared with me that I was positive for my family’s pathogenic variation in ATM. My lifetime risk of developing breast cancer is 40%. I’m still learning to be comfortable with that percentage. It’s not 100%, but it’s also not 0%. It’s in the middle. Thinking and talking about it has been getting easier. In fact, the more I talk about it, the easier that it gets. It normalizes the experience. I’m sharing this experience to do just that. Normalize my feelings, experience, and thoughts.
I encourage my fellow students, future colleagues, supervisors and professors to think about what it may be like to be on the other side of the counseling session. It truly is not what we think it could be. Since finding a love for genetics, I thought I would love to know about my DNA and genes. The emotions and thoughts that this brought up for me were not something I had ever anticipated. In hindsight, this would not be information that I would seek out.
To my friends and family reading this — I am okay. I am coping with this new information and I am doing a lot better than I was 1 month ago. I’ve become more comfortable and am adjusting around my new normal. In the spirit of becoming more comfortable, I encourage you to ask me about this experience and what it is like to know. I’m happy to share this experience.
If you’re interested in connecting with a genetic counselor, I encourage you to use this tool: https://findageneticcounselor.nsgc.org/?reload=timezone. Meeting with a genetic counselor can be an emotional experience, I’ll be the first one to say it. But it can be so important for your healthcare.
