Individualized Medicine in Gastroenterology and Hepatology

• Published in: Mayo Clinic proceedings Vol. 92; no. 5; pp. 810 - 825
• Main Authors: Stephens, Michael C., MD, Boardman, Lisa A., MD, Lazaridis, Konstantinos N., MD
• Format: Journal Article
• Language: English
• Published: England Elsevier Inc 01.05.2017; Frontline Medical Communications Inc; Elsevier Limited
• Subjects: Adenomatous Polyposis Coli - diagnosis; Adenomatous Polyposis Coli - genetics; Charitable foundations; Cholestasis, Intrahepatic - diagnosis; Cholestasis, Intrahepatic - genetics; Clinical medicine; Colorectal cancer; Colorectal Neoplasms - diagnosis; Colorectal Neoplasms - genetics; Development and progression; Digestive system diseases; Drug therapy; Gastroenterology; Gastrointestinal diseases; Gastrointestinal tract; Genetic aspects; Genomes; Genomics; Hepatology; Humans; Inflammatory bowel disease; Inflammatory Bowel Diseases - diagnosis; Inflammatory Bowel Diseases - genetics; Internal Medicine; Laboratories; Liver diseases; Medical prognosis; Mutation; Pharmacogenetics - methods; Pharmacogenetics - standards; Precision medicine; Precision Medicine - methods; Precision Medicine - standards; Tumors; United States; mutL homolog 1; LS; AFAP; Individualized Medicine; multidrug resistance 3; EHR; UC; ulcerative colitis; genomics odyssey board; AC; colorectal cancer; IM; inflammatory bowel disease; whole exome sequencing; Crohn disease; Clinical Laboratory Improvement Amendments; CAP; MMR; adenomatous polyposis coli; CRC; PFIC; MutY ( E. coli) homolog; progressive familial intrahepatic cholestasis; NGS; familial adenomatous polyposis; electronic health record; WES; mismatch repair; IBD; proficient mismatch repair; lipopolysaccharide responsive beige-like anchor; deficient mismatch repair; attenuated familial adenomatous polyposis; GOB; MDR3; CLIA; Lynch syndrome; dMMR; CD; next-generation sequencing; LRBA; Amsterdam criteria; MLH1; APC; FAP; pMMR; very early onset inflammatory bowel disease; MUTYH or MYH; VEOIBD; College of American Pathologists
• ISSN: 0025-6196; 1942-5546
• DOI: 10.1016/j.mayocp.2017.03.002

Abstract After the completion of the Human Genome Project, there has been an acceleration in methodologies on sequencing nucleic acids (DNA and RNA) at a high precision and with ever-decreasing turnaround time and cost. Collectively, these approaches are termed next-generation sequencing and are already affecting the transformation of medical practice. In this symposium article, we highlight the current knowledge of the genetics of selected gastrointestinal tract and liver diseases, namely, inflammatory bowel disease, hereditary cholestatic liver disease, and familial colon cancer syndromes. In addition, we provide a stepwise approach to use next-generation sequencing methodologies for clinical practice with the goal to improve the diagnosis as well as management of and/or therapy of the chosen digestive diseases. This early experience of applying next-generation sequencing in the practice of gastroenterology and hepatology will delineate future best practices in the field, ultimately for the benefit of our patients.