TECH THAT SAVES LIVES

The Tech That Saves Lives

THE EMILY GUSKIN STORY

STORY BY LIESEL SCHMIDT | PHOTOGRAPHY BY KENNY WALTERS

Breast cancer. It’s an insidious disease that touches each of us at some point, whether directly or on the fringes of our lives. And while the thought of a breast cancer diagnosis alone is scary enough, hearing those words spoken to you can be earth-shattering. Fortunately, with the many advances in research and new treatments available, it doesn’t have to be a death sentence. Women all over the world are fighting the good fight, winning their battles and standing tall as survivors. In fact, technology and genetic testing make it possible to take preemptive measures that increase the odds in your favor and prevent ever having to face a diagnosis. Like many other women over the course of the last decade, genetic testing was a saving grace for Emily Guskin, whose heritage as an Ashkenazi Jew, coupled with a family history of breast cancer, greatly increased the likelihood that she carried the BRCA mutation. And while her mother tested negative for the BRCA gene, her father tested positive for the BRCA1 mutation—a gene that was likely passed on by his mother who died of breast cancer at age 36. Her father’s positive results led Guskin to the decision to get tested herself, and so she sought out genetic testing in 2012 through a clinic in Bethesda, Maryland. “First, we went through our family history with cancer and then I had blood drawn and sent to Myriad Genetics,” Guskin explains of the process. Myriad Genetics is dedicated to providing answers that empower patients and physicians to guide treatment and preventive decisions. They believe that patient care begins with knowledge, and every patient deserves to know the most about their cancer and their risk.

“I got the results back through the genetic counselor, who sat me down to go over what they meant and the associated risks being a BRCA1 carrier. My mom subsequently had a full recovery from breast cancer, but as anyone who has a family member or loved one who had cancer knows, the effects of cancer treatment can affect an individual for the rest of her life, so as a carrier of the mutation, I wanted to prevent it.”

Those results, however alarming, were also a tool for Guskin. “Being aware of my family history before even having knowledge of a mutation meant I knew I had to be hypervigilant of my breast health,” she says. “My paternal grandmother and great aunt both died young of breast cancer. Learning of my genetic mutation gave me a recommended surveillance plan and meant health insurance would cover MRIs and mammograms every other six months and later covered preventative surgeries. It was also empowering to do something and not just sit by and accept the potential fate of my genetics. I did surveillance for about six years with rotating MRIs and mammograms for breast monitoring along with CA125 tests and ultrasounds to monitor for ovarian cancer.”

As a BRCA1 carrier who had not had cancer, Guskin’s plan for the future was all preventative care rather than treatment. As a result, she was able to do a "direct to implant" procedure, which meant that implants were put in during the same surgery as her mastectomy. With time to make the right choice for her needs and research the best doctors, Guskin visited the National Center for Plastic Surgery in June of 2018. “I spoke with a nurse there named Gretchen, who is a runner like me, and assured me that I would be able to comfortably run again after surgery, which had been a huge concern of mine,” says Guskin. “I always come to doctor's appointments with a litany of questions, and all the healthcare providers in the office that day—and on future visits—answered my myriad questions and treated me with respect.” It was through the recommendation of her plastic surgeon, Dr. Venturi, that Guskin met Dr. Weintritt at the National Breast Center, the doctor who would perform the surgery to remove her breasts. The two made a team that she had full confidence in, and in 2019, Guskin had a preventative mastectomy with reconstruction.

Dr. Weintritt has spent many years advocating for genetic testing, which allows patients to seek out preventative care. He explains, "All of the efforts we have made towards early

Being aware of my family history before even having knowledge of a mutation meant I knew I had to be hypervigilant of my breast health,

- EMILY GUSKIN

diagnosis and developing new treatments for breast cancer have been very impactful, but none are as successful as being able to prevent breast cancer in the appropriate patients with genetic predisposition and extremely high cancer risk. BRCA gene mutations were discovered over 25 years ago yet we still have patients with personal and family history of breast cancer who have not been informed of or provided access to the testing. We have worked very hard for the past decade to develop and refine surgical techniques to provide patients having preventative mastectomies an excellent outcome. We need to work just as hard to find those at risk for these gene mutations and offer them timely genetic counseling and testing before a diagnosis occurs that we could have prevented." Three years later, she underwent the removal of her fallopian tubes as part of a trial study called SOROCk that researches whether fallopian tube removal alone can reduce risk of ovarian cancer in BRCA1 carriers. She continues with CA-125 and ultrasounds to monitor for ovarian cancer. “Knowing my genetic mutation status in 2012 gave me the luxury of time to pick the right doctors for my surgeries in 2019 and 2022 and to preserve my fertility before I underwent any gynecological surgeries. Although it is still possible to undergo IVF without fallopian tubes, I froze eggs in 2016 and 2017 in advance of any preventative surgeries. This gave me the flexibility to choose which gynecological prevention surgery I would start with. It is still recommended that I have my ovaries removed, but I have not done that yet. More recently, I did a full genetic makeup through Dr. Weintritt's office, which tested for more genetic mutations than I was able to test for in 2012. Happily, I am only a BRCA mutant and don't have other mutations.”

Naturally, this has been a journey that has changed Guskin—as it has also changed her future. “Just one generation removed from my grandmother, who died of breast cancer at 36, I was able to take control of my health and lower my breast cancer risks dramatically,” she says. “The evolution of breast cancer treatment and prevention in this country is remarkable, and I am grateful to have access to quality health care.”