by Leandro Colli, Mingfeng Zhang, Jiyeon Choi, Candace Middlebrooks, and Laufey Amundadottir
Gloria M. Petersen, Ph.D., Professor of Epidemiology at the Mayo Clinic College of Medicine and Associate Director for Population Sciences Research, Mayo Clinic Cancer Center, gave a DCEG Visiting Scholar lecture in October 2015. Her talk was titled “Recent advances in genetics and risk assessment of pancreatic cancer.”
In her lecture, Dr. Petersen shared her experience searching for genetic risk factors for pancreatic cancer. Throughout her talk she highlighted the importance of investigating germline mutations as well as tumor characteristics and genetic signatures in addition to classical epidemiological factors. In her population of high-risk families at the Mayo Clinic and through consortial efforts, Dr. Petersen tests for established genes for familial pancreatic cancer, as well as searches for new loci of interest. Her in-depth discussion of etiologic investigations using cutting-edge genetic epidemiological methods began with a captivating story of a patient.
To illustrate the real-world challenges of this work, she described a clinical case from one of the families in her study. Several members of this large, extended family presented with disease. Genetic studies revealed a specific mutation among the cases. Testing offered to the rest of the family revealed the presence of the high-risk variant among one of the clinically unaffected children. Newly informed of their carrier status, this individual made the unprecedented decision—despite extensive counseling and education by the medical team—to undergo a radical prophylactic pancreatectomy, choosing life-long surgery-induced diabetes instead of a possible pancreatic cancer diagnosis in the future. She also discussed some of the bioethical considerations when researchers inform members of pancreatic cancer families of incidental genetic research findings.
Dr. Petersen went on to discuss her efforts to amass a biobank of tumor specimens at the Mayo Clinic, and the promise such a repository creates for future studies.
“Dr. Petersen’s pioneering work leads us to think deeply about how advances in genetic research may inform precision cancer prevention in the future,” said Laufey Amundadottir, Ph.D., investigator in the Laboratory of Translational Genetics (LTG) and organizer of Dr. Petersen’s two-day visit.
Later, Dr. Petersen gave an informal brown-bag talk titled “Translational challenges in cancer research: Bioethics lessons and cancer biobanks,” hosted by fellows from LTG and the Laboratory of Genetic Susceptibility. In addition, she participated in two roundtable discussions with DCEG investigators: “Pancreatic cancer etiology: genetic and exposure studies: What have we learned and what’s next?”, hosted by Dr. Amundadottir and Rachael Stolzenberg-Solomon, Ph.D.; and “Incidental findings, informed consent, and return of results from genetic sequencing,” hosted by Lynn Goldin, Ph.D.