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• W1729732057 abstract "Jonathan BraunView Large Image Figure ViewerDownload Hi-res image Download (PPT)Bruce E. SandsView Large Image Figure ViewerDownload Hi-res image Download (PPT) The discipline of gastroenterology, hepatology and pancreatology has changed dramatically since its inception as a specialty of internal medicine. The specialty originally focused and pursued an understanding of the pathology and physiology of the gastrointestinal tract, liver and pancreas scientifically, something which is still in active evolution. We began to comprehend gut motility, stomach acid secretion, the epidemiology of digestive cancers, autoimmune diseases of the gut, pancreas and liver, and how infectious diseases are transmitted and affect the GI tract. Treatment slowly became possible with the acquired knowledge, and created approaches for therapeutics. Histamine type 2 blockers and proton pump inhibitors, nucleotide and nucleoside analogs, immune modulators, and a myriad of antibiotics have been studied and used effectively to alleviate patient suffering from GI diseases. Radiological imaging helped determine the absence, presence, or extent of disease noninvasively. Endoscopy of the alimentary tract and its related growing list of special devices have provided a huge leap forward in caring for patients with GI disease, allowing direct visualization of and sampling from the GI tract, and providing an avenue for direct therapeutic intervention. We have now entered the genomic era, providing another leap forward in the care of patients with GI diseases. This era commenced with the identification of genetic mutations as the basis of Mendelian-inherited diseases involving the GI tract, such as familial adenomatous polyposis1Groden J. Thliveris A. Samowitz W. et al.Identification and characterization of the familial adenomatous polyposis coli gene.Cell. 1991; 66: 589-600Abstract Full Text PDF PubMed Scopus (2400) Google Scholar, 2Kinzler K.W. Nilbert M.C. Su L.K. et al.Identification of FAP locus genes from chromosome 5q21.Science. 1991; 253: 661-665Crossref PubMed Scopus (2007) Google Scholar cystic fibrosis3Rommens J.M. Iannuzzi M.C. Kerem B. et al.Identification of the cystic fibrosis gene: chromosome walking and jumping.Science. 1989; 245: 1059-1065Crossref PubMed Scopus (2531) Google Scholar, 4Riordan J.R. Rommens J.M. Kerem B. et al.Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.Science. 1989; 245: 1066-1073Crossref PubMed Scopus (5925) Google Scholar, 5Kerem B. Rommens J.M. Buchanan J.A. et al.Identification of the cystic fibrosis gene: genetic analysis.Science. 1989; 245: 1073-1080Crossref PubMed Scopus (3211) Google Scholar and genetic hemochromatosis.6Feder J.N. Gnirke A. Thomas W. et al.A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.Nat Genet. 1996; 13: 399-408Crossref PubMed Scopus (3345) Google Scholar The genetic information could be predictive if one carried the mutation; it could be also be predictive to family members when they did not carry the mutation, foregoing unnecessary surveillance efforts and applying those healthcare resources aptly to mutant carriers. Genetic information has progressed dramatically and now extends past heritable diseases; it applies to many GI conditions in terms of risk (eg, genome wide association studies or GWAS, or the presence or absence of a mutation directly within tumor tissue), prediction of biological behavior, outcome and survival, and in the approach and use of therapeutics (eg, cetuximab in wild-type KRAS colorectal cancer, or 6-thioguanine and 6-methylmercaptopurine metabolite levels for optimal use of azathioprine or 6-mercaptopurine). The field is rapidly evolving. A convergence of advancing knowledge of GI tract disease, technical advances and reduced costs for next generation sequencing and other analytic technologies such as proteomics and metabolomics, easier access to sampling human tissue with advances in image-directed biopsies and minimally invasive tissue removal, and a growing number of interventions discovered to improve the health of patients with GI diseases make this era an exciting time for helping our patients and fundamentally changing our GI practices. Biomarkers are a key part of precision (personalized or individualized) medicine. Molecular biomarkers are derived from the genetic, genomic and other high-throughput platforms in analysis of blood, tissue, fecal, urine or other biological material that can inform the practitioner on the next best course of action for the individual patient.7Carethers J.M. DNA testing and molecular screening for colon cancer.Clin Gastroenterol Hepatol. 2014; 12: 377-381Abstract Full Text Full Text PDF PubMed Scopus (23) Google Scholar Biomarkers ideally lead to prescriptive targeted treatment changes that can improve the outcome of patients with GI disease; this is the essence and part of the definition of precision medicine.8Jameson J.L. Longo D.L. Precision medicine–personalized, problematic, and promising.N Engl J Med. 2015; 372: 2229-2234Crossref PubMed Scopus (639) Google Scholar Biomarkers can also be diagnostic or prognostic, being more informative for a clinical course rather than a targeted individualized treatment prescription. The assumption and reality is that GI patients with a specific disease are biologically heterogeneous, and molecular biomarkers can differentiate patients into subtype groupings of more homogeneous individuals sharing an actionable characteristic amenable to molecularly targeted therapies beneficial to that subgroup or individual. Both biomarkers and targeted individualized therapies are the cornerstone of President Obama’s Precision Medicine Initiative put forth in early 2015.9Collins F.S. Varmus H. A new initiative on precision medicine.N Engl J Med. 2015; 372: 793-795Crossref PubMed Scopus (3199) Google Scholar This initiative aims to further revolutionize the practice of medicine by generating additional scientific evidence to move the concept of precision medicine into everyday clinical practice. Parallel and complementary ventures such as the 100,000 Genomes Project in the UK aim to identify novel genetic diagnoses and create opportunities for the use of genomics in healthcare.10http://www.genomicsengland.co.uk/the-100000-genomes-project/ Accessed September 3, 2015.Google Scholar This special issue of Gastroenterology lays a foundation and provides a current understanding of the approach to precision medicine for several GI disorders, a timely topic given the growing international investments in personalized care. We as editors of this special issue, along with the entire Gastroenterology Board of Editors, selected the topic of genetics, genetic testing, and biomarkers in digestive diseases because of the rapid advances in these topics among the GI diseases, over just the past few years. Recent studies outlined in many of the articles within this special issue highlight how fast information has moved, and how quickly biomarkers and potential therapeutic targets for treatment purposes are lining up for phased human clinical studies, pharmaceutical testing portfolios, and routine patient use. The transformation from bench to practice has been greatly accelerated with newer and cheaper genomic analytic capabilities and information technologies, and rapid dissemination of information. New molecular biomarker tests are being put out to the clinical commercial market on a regular basis. Many aspects of this rapid change have and will continue to become part of daily clinical GI practice. For this special issue of Gastroenterology, we recruited leading authorities to update our readers in the genetics, genetic testing, and biomarkers of digestive diseases. The 12 reviews and 2 commentaries in this issue cover many aspects of the GI tract, hepatobiliary system, and pancreas. The 2 commentaries are more general than disease-focused, and deal with the generation and recording of genetic information. The commentary by Ashwin N. Ananthakrishnan and David Lieberman (1134–1137) examines the current and future ideal use of electronic health records for genetic and biomarker information that pertains to the practitioner and researcher, laboratory, and patient.11Ananthakrishnan A.N. Lieberman D. Patient electronic health records as a means to approach genetic research in gastroenterology.Gastroenterology. 2015; 149: 1134-1137Abstract Full Text Full Text PDF PubMed Scopus (2) Google Scholar Joanne Ngeow and Charis Eng’s commentary (1138–1141) addresses a path forward in the post-genomic area, including the examination of gene-gene or gene-environment interactions, and clinical implementation of genomics.12Ngeow J. Eng C. New genetic and genomic approaches in the post-GWAS era –back to the future.Gastroenterology. 2015; 149: 1138-1141Abstract Full Text Full Text PDF PubMed Scopus (5) Google Scholar Among the 12 disease-focused reviews, 4 articles examine biomarkers and genetics and their clinical application in colorectal cancer (CRC). John M. Carethers and Barbara H. Jung (1177–1190) highlight the genetics and potential biomarkers for use in patients with sporadic CRC,13Carethers J.M. Jung B.H. Genetics and genetic biomarkers in sporadic colorectal cancer.Gastroenterology. 2015; 149: 1177-1190Abstract Full Text Full Text PDF PubMed Scopus (281) Google Scholar and Elena M. Stoffel and C. Richard Boland (1191–1203) provide genetic testing insights in inherited forms of CRC.14Stoffel E.M. Boland C.R. Genetics and genetic testing in hereditary colorectal cancer.Gastroenterology. 2015; 149: 1191-1203Abstract Full Text Full Text PDF PubMed Scopus (44) Google Scholar Yoshinaga Okugawa, William M. Grady, and Ajay Goel (1204–1225) showcase how epigenetic alterations in CRC provide biomarkers for patient care,15Okugawa Y. Grady W.M. Goel A. Epigenetic alterations in colorectal cancer: emerging biomarkers.Gastroenterology. 2015; 149: 1204-1225Abstract Full Text Full Text PDF PubMed Scopus (452) Google Scholar and Douglas J. Robertson and Thomas F. Imperiale (1286–1293) review the clinical application of biomarkers within stool tests for CRC screening.16Robertson D.J. Imperiale T.F. Stool testing for colorectal cancer.Gastroenterology. 2015; 149: 1286-1293Abstract Full Text Full Text PDF PubMed Scopus (46) Google Scholar Three articles focus on the rapidly advancing use of genetics and biomarkers for inflammatory bowel disease (IBD). Dermot McGovern, Subra Kugathasan, and Judy H. Cho (1163–1176) provide an update on GWAS data from large IBD studies.17McGovern D. Kugathasan S. Cho J.H. Genetics of inflammatory bowel diseases.Gastroenterology. 2015; 149: 1163-1176Abstract Full Text Full Text PDF PubMed Scopus (245) Google Scholar Marla Dubinsky and Jonathan Braun (1265–1274) showcase the use of microbial biomarkers for IBD diagnosis,18Dubinsky M. Braun J. Diagnostic and prognostic microbial biomarkers in inflammatory bowel diseases.Gastroenterology. 2015; 149: 1265-1274Abstract Full Text Full Text PDF PubMed Scopus (44) Google Scholar and Bruce E. Sands (1275–1285) highlights inflammatory biomarkers for IBD.19Sands B.E. Biomarkers of inflammation in inflammatory bowel disease.Gastroenterology. 2015; 149: 1275-1285Abstract Full Text Full Text PDF PubMed Scopus (207) Google Scholar Two articles focus on the liver: Antonello Pietrangelo (1240–1251) reviews classic hemochromatosis genetics and testing,20Pietrangelo A. Genetics, genetic testing and management of hemochromatosis: 15 years since hepcidin.Gastroenterology. 2015; 149: 1240-1251Abstract Full Text Full Text PDF PubMed Scopus (91) Google Scholar and Jessica Zucman-Rossi, Augusto Villanueva, Jean-Charles Nault, and Josep M. Llovet (1226–1239) provide a comprehensive review of the genetics and biomarkers for hepatocellular carcinoma.21Zucman-Rossi J. Villanueva A. Nault J.C. et al.Genetic landscape and biomarkers of hepatocellular carcinoma.Gastroenterology. 2015; 149: 1226-1239Abstract Full Text Full Text PDF PubMed Scopus (758) Google Scholar The remaining three reviews highlight the esophagus, stomach, and pancreas. Brian J. Reid, Thomas G. Paulson, and Xiaohong Li (1142–1152) present the most up-to-date genetic analyses of Barrett’s esophagus and esophageal adenocarcinoma.22Reid B.J. Paulson T.G. Li X. Genetic insights in barrett's esophagus and esophageal adenocarcinoma.Gastroenterology. 2015; 149: 1142-1152Abstract Full Text Full Text PDF PubMed Scopus (31) Google Scholar Patrick Tan and Khay-Guan Yeoh (1153–1162) supply the latest insights of the genetics of gastric adenocarcinoma,23Tan P. Yeoh K.G. Genetics and molecular pathogenesis of gastric adenocarcinoma.Gastroenterology. 2015; 149: 1153-1162Abstract Full Text Full Text PDF PubMed Scopus (291) Google Scholar while David C. Whitcomb, Celeste Shelton, and Randall E. Brand (1252–1264) present the latest on the biomarkers and genetics of inherited and sporadic forms of pancreatic cancer.24Whitcomb D.C. Shelton C. Brand R.E. Genetics and genetic testing in pancreatic cancer.Gastroenterology. 2015; 149: 1252-1264Abstract Full Text Full Text PDF PubMed Scopus (47) Google Scholar We are very grateful to the contributing authors as well as the insightful manuscript reviewers and editorial staff for their time and energy in creating these outstanding articles with useful figures and tables for the readers of Gastroenterology. We hope that readers of this special issue of Gastroenterology will find it full of new insights into this rapidly moving field in clinical GI practice. We hope you enjoy the up-to-date information, and see the alignment with current and future aspects of the Precision Medicine Initiative and the other related global efforts. We trust that this issue provides a new and timely reference as precision medicine, biomarkers, and genetics move more fully into GI clinics to direct patient care. The authors thank all of the contributing authors for their willingness to write outstanding reviews for our readers in this special issue of Gastroenterology. We also thank Laura Flecha for her expert oversight of this special issue, and Sarah Williamson for her expert medical illustration assistance." @default.
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