Voices: The Impact of Genetic Testing
Without Genetic Counseling For a Young Woman
by Lisa Held
A string of family cancer diagnoses and an uncle who worked for Myriad prompted a frenzy of genetic testing among the women in my family. The results were positive—BRCA2 positive.
Just months after I lost my mother to pancreatic cancer, I went with my aunt to her post-mastectomy appointment. At age 20, I had just discovered my own genetically-mutated condition the year before and was grappling with what it meant. Although we were obviously no strangers to cancer, my aunt and I knew nothing about BRCA mutations and hadn’t even considered what the next step should be for me. She thought that her oncologist might provide insight for me. “Lisa just found out she’s BRCA2 positive,” she explained to the oncologist. “What’s your best advice for her?”
The doctor, without hesitating, said, “Find
a guy, get married, have kids right away, and then have your breasts and
ovaries removed. It’s your only chance.” You could hear a pin
drop in the room. He stood to leave, then turned, as if remembering the most
important point. “Oh! And make sure you tell him.”
“Him?” I asked, my voice shaking.
“Yes, the guy you’re going to marry. You have to tell him right away. So he’ll know what he’s getting into.”
Suddenly, in the span of a moment, I didn’t recognize my own life. This man, this man who was going to suddenly marry me with the understanding that we’d have babies right away and then quickly slice off all feminine parts of me, where would I find him? And this pathway laced with commitments and children and surgery and sickness, was it a one-way street? Would I have to completely abandon everything I’d ever hoped, dreamed, and worked towards? My education, my career: would I have to give it all up?
Looking back on this moment in my life, I still get anxious just writing about it. Thankfully, I have long since abandoned the idea that being a pre-vivor means that my life is predetermined. I no longer accept the notion that men may reject me for being damaged goods, and I have cast off the feeling that I should walk through life wearing a warning label. I am confident that I will always be able to make my own choices, not out of fear, but based on careful medical, emotional, and spiritual research. I am extremely grateful for the knowledge that allows me to consider precautions.
But that moment, because of the way it scarred me, drives me to think about the many moments like this one that all pre-vivors must encounter. It reminds me of the lack of knowledge and understanding in much of the medical community, the importance of genetic counseling and informed genetic testing, and the absolute need for groups like FORCE that create support networks for women who may often feel like no one else really understands what they face each day. My greatest hope is that with the help of FORCE, all pre-vivors will come to understand that they never need to feel as helpless as I did in that moment.
Lisa Held is a young BRCA2-positive pre-vivor. She lives in New York City and currently works for Facing History and Ourselves, an international nonprofit organization. She is an aspiring writer and journalist. Lisa is also a coordinator for the newly-formed NY City FORCE Outreach Network.
Share Your Story
Do you have something to say that may inform our readers or ease their experience? We invite you to share your reflections or personal story about dealing with the issues of hereditary breast or ovarian cancer. Tell us how you feel, how you cope, or what you’ve learned. E-mail stories of 500-550 words to firstname.lastname@example.org or mail to FORCE, 16057 Tampa Palms Blvd. W. #373, Tampa, FL 33647. Please include your name and daytime telephone number so we can contact you if we decide to publish your story in a future issue.
Importance of Genetic Counselors in the Genetic Testing Process
by Heather Shappell, MS, CGC
As a Board Certified Genetic Counselor, I’ve been invited to comment on this very personal story from a professional’s perspective. However, as a compassionate person, I feel the need to respond on an emotional level as well. The first thing I feel compelled to say is, “Lisa, I am so sorry that a health care professional responded to you in this careless and inappropriate way.”
BRCA testing is more than a “simple blood test.” Stories like this one are the unfortunate result of well-intentioned health care providers who order genetic tests without considering the patient’s individual situation, and the various aspects of their lives that may be impacted by the results. As a genetic counselor who has focused on hereditary cancer for my entire career, I wish this was the only gut-wrenching story I had ever heard. Unfortunately, it is not.
From my experience with a woman who was told by her gynecologist that she tested negative when her results clearly showed a BRCA1 mutation, to the woman I spoke with recently who called with questions after her doctor gave her BRCA2-positive results “with one hand on the doorknob” and a mumbled response to the one question she was able to get in before he left the room, I have seen my share of what can happen when patients considering genetic testing are not given access to qualified genetic experts.
All of these stories highlight the importance of talking with a genetic expert, both before and after having a BRCA genetic test. Genetic counselors are trained to present medical options and recommendations with sensitivity to the issues the individual patient is facing. Lisa’s story illustrates how the test result discussion a genetics expert has with a woman in her 20s is very different than the discussion with a woman in her 50s. The concerns and decisions women face vary substantially. It takes a skilled expert to help patients navigate their way through the many risk numbers, and screening and riskreducing decisions they face because of their BRCA results. Individuals with BRCA mutations (and those who test negative) who feel confused about the meaning of their test results are encouraged to talk with an expert about their results and discuss what medical options they should consider based on their individual situation. It’s never too late to get the facts and the support you deserve!
Over time, as Lisa realized, most people who are tested begin to feel that having this information and taking charge of their cancer screening and risk-reducing plans is empowering. Thankfully, this happens even after they encounter uninformed health care providers who make careless comments along the way.
With organizations like FORCE, this community (genetic counselors included) can take some comfort in knowing that individuals with BRCA mutations have a resource for education and support that can help them deal with and share these negative experiences. More importantly, FORCE gives them a chance to reach out and talk to others facing similar concerns and issues. The importance of this type of camaraderie and support is obvious in Lisa’s story.
Heather L. Shappell, M.S., CGC, is a genetic counselor and Founder of Informed Medical Decisions (www. informedmedicaldecisions.com), which provides genetic counseling with Board Certified Genetic Counselor by telephone. She is also an Advisory Board Member of FORCE.
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