Author: Cameron Friedman
Cameron is a graduate student of Bowling Green State University. He holds a B.S. in Biology and Psychology. He is a current second year genetic counseling graduate student at Case Western Reserve University. When he is not in school, Cameron enjoys playing tennis and visiting local coffee shops and breweries.
There is one word that has impacted and devastated many influential people in the course of my life: cancer. Three women who come to mind when I think about how cancer has affected those around me: Lu, Carolyn, and Stephanie. Lu was a close family friend whom I considered to be my second mother. She spread joy and happiness to everyone she met. Carolyn was my father’s first wife and the mother to my brother and sister. Though I never met Carolyn , she has touched my life in many ways, including giving me the first letter of my name. Lastly, my sister, Stephanie, who has been impacted by cancer more than anyone else I know, despite not being diagnosed herself. These women have led me to pursue a career in genetic counseling, specifically focused in cancer genetic counseling and cancer research.
Most individuals reading this blog post likely have their own experience with cancer, personally and/or professionally. Professionally, this experience is an incredibly difficult time in a patient’s and family’s life as detailed by Jana Basil, a practicing licensed genetic counselor, in her blog post Remembering the Person Behind the Diagnosis. In her post, she describes her experience with a family with a newly diagnosed BRCA1 pathogenic variant, and her experience as a genetic counselor, having the “privilege to walk with these patients during such sensitive, intense, pivotal moments in their lives.”
“Walking” with Patients
During my time as a genetic counseling student at Case Western Reserve University, I have been afforded the opportunity to counsel patients and families who have cancer, or who were at risk for cancer. These opportunities have allowed me to “walk” with my patients through a portion of their own cancer journey and to help them understand their diagnosis through a genetic lens.
Part of my responsibility as a student is to help these families through discussion of genetic testing. The goal is to develop a more personalized medical approach. Testing for specific genetic pathogenic variants helps identify available targeted therapies, family members who may be at a high risk for cancer, and personalizes cancer screenings for those at a higher risk to develop cancer. Although our technology and understanding of genetics’ role in cancer has come a long way in cancer care, I cannot help but get a pit in my stomach when I see certain cancer indications come across my/my supervisor’s desk. Pancreatic cancer is one of those stomach aches.
Pancreatic Cancer Awareness Month
November is Pancreatic Cancer Awareness month.. The American Cancer Society reports that pancreatic cancer comprises about 3% of all cancer diagnoses in a year but has an overall 5-year survival rate of about 9%.1 These numbers are sobering to me, and I can only imagine how scary they may be for patients.
Contributing to low survival rate for patients with pancreatic cancer is a lack of, or non-specific, symptoms, and the lack of effective screening options. This results in a diagnosis of pancreatic cancer at a later stage. Tumors may form in the pancreatic cells that make insulin, called pancreatic neuroendocrine tumors (PanNETs). Or, they may form in the exocrine cells that make the digestive enzymes (often pancreatic adenocarcinomas; these are most common).
Heres some good news. There are targeted therapies available for some individuals with pancreatic cancer who have certain pathogenic variants. Currently, there is FDA approved targeted therapy available for individuals with a BRCA1 or BRCA2 variant via PARP inhibitors and additional chemotherapy options.2 The goal of these targeted therapies is to improve the low survival rate.2 The National Comprehensive Cancer Network (NCCN) guidelines recommend genetic testing for genes associated with pancreatic cancer should be completed for anyone with a personal/family history of an identified exocrine pancreatic tumor.3
There are multiple inherited syndromes associated with PanNETs including: multiple endocrine neoplasia type I, multiple endocrine neoplasia type IV, von Hippel Lindau syndrome, neurofibromatosis type I (NF1), and tuberous sclerosis complex (TSC).
Additionally, NCCN recommends considering genetic testing can be considered for PanNET tumors based upon evaluation of personal/family history for one of the inherited syndromes.4 Individuals carrying pathogenic variants associated with pancreatic cancer or at-risk family members with a relevant family history can work with their medical team. They can discuss proactive pancreatic cancer screening techniques like a combination of imaging options such as endoscopic ultrasounds, MRIs, and CT scans at recommended time intervals to assist with pancreatic cancer surveillance and early detection.5
These sessions can be intimidating, especially when patients and families ask me about these statistics. Yet, I can think of no other healthcare professional who is as emotionally resilient and as highly trained to have these tough conversations than genetic counselors. We are equipped with the critical thinking, problem solving, and empathetic counseling skills needed for this career path. These skills prepare us to confront many difficulties over the course of our career. Personal experience with cancer got me interested in this field. I know my genetic counseling training will prepare me to start my journey combating cancer.
1American Cancer Society: Survival Rates for Pancreatic Cancer. (2020, January 08). Retrieved October 22, 2020, from https://www.cancer.org/cancer/pancreatic-cancer/detection-diagnosis-staging/survival-rates.html
2Golan, T., Hammel, P., Reni, M., Van Cutsem, E., Macarulla, T., Hall, M. J., Park, J. O., Hochhauser, D., Arnold, D., Oh, D. Y., Reinacher-Schick, A., Tortora, G., Algül, H., O’Reilly, E. M., McGuinness, D., Cui, K. Y., Schlienger, K., Locker, G. Y., & Kindler, H. L. (2019). Maintenance Olaparib for Germline BRCA-Mutated Metastatic Pancreatic Cancer. The New England journal of medicine, 381(4), 317–327. https://doi.org/10.1056/NEJMoa1903387
3National Comprehensive Cancer Network Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. (2020, September). Retrieved October 22, 2020, from https://www.nccn.org/professionals/physician_gls/default.aspx
4National Comprehensive Cancer Network Guidelines: Neuroendocrine and Adrenal Tumors. (2020, July). Retrieved October 22, 2020, from https://www.nccn.org/professionals/physician_gls/default.aspx5John Hopkins Medicine: Pancreatic Cancer Early Detection for High Risk Individuals. (n.d.). Retrieved October 22, 2020, from http://pathology.jhu.edu/pancreas/CAPS/surveillance.php?area=re