Genetics of Pancreatitis: An Update for Clinicians and Genetic Counselors
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With novel genetic technologies available, there is a paradigm shift in the way that risk assessments, diagnoses, and therapies for genetic susceptibility syndromes are addressed. Hereditary pancreatitis is among these conditions, for which genetic counseling and next generation sequencing, help families better understand, cope with and live healthier lives. Identifying a genetic etiology to a condition formally believed to be solely environmentally induced can alter the path for treatment for many patients. This finding introduces the concept of gene-environment interactions in human disease and the relationship between genetic predisposition and exposure risk in disease development. The genetic counseling process is complex with medical explanations, psychosocial issues relating to coping with diagnosis, potential future health problems, recurrence risks and family planning. These sometimes difficult conversations can be facilitated by a genetic counselor as a member of the multidisciplinary team. This chapter addresses the intricate medical and psychosocial issues that can arise in the setting of treating patients with hereditary pancreatitis.
KeywordsHereditary pancreatitis Acute pancreatitis Chronic pancreatitis Genetic counseling Genetic counselor Psychosocial Genetic testing Risk assessment Family history PRSS1 SPINK1 CFTR CTRC CASR Personalized medicine Next generation sequencing Whole genome/exome sequencing Gene-environment interactions
Dr Whitcomb has been supported by the Wayne Fusaro Pancreatic Cancer Research Fund, The Frieda G. and Saul F. Shapira BRCA Cancer Research Program and the National Institutes of Health (DK061451, DK075803, DK054709).
S. Solomon is an employee of the University of Pittsburgh; Dr. D. Whitcomb is a board member for the National Pancreas Foundation and the Cooperative Alliance for Pancreatic Research, a consultant for Abbott, Millennium, and Lilly Pharmaceuticals, and an employee of the University of Pittsburgh. He has received grant funding from the NIIT, honoraria for CME Programs, stock options and royalties from Ambry Genetics, and payment for development of educational presentations from Abbott.
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