The AGA Journals Blog highlights the latest discoveries in gastroenterology and hepatology research.

Special Issue: Genetics, Genetic Testing, and Biomarkers of Digestive Diseases

A special issue of Gastroenterology features 14 articles discussing the genetic factors that contribute to a range of gastrointestinal (GI),  hepatobiliary, and pancreatic diseases, and how this information can be used in diagnosis and treatment of patients.


An introduction to the special issue explains the value of associating diseases with specific genetic variants, which can help determine patients’ level of risk for specific disorders and predict disease progression or response to specific treatments.

Genetic analyses are easier to peform than ever, due to technical advances and reduced costs for next generation sequencing and other technologies. Image-directed biopsies and minimally invasive methods for tissue collection have made it easier than ever to obtain material for analysis.

The 12 reviews and 2 commentaries in this special issue of Gastroenterology discuss how these advances are affecting GI research and practice.

Ashwin N. Ananthakrishnan and David Lieberman comment on the use of electronic health records for genetic and biomarker information, whereas Joanne Ngeow and Charis Eng discuss the clinical implementation of genomics.

John M. Carethers and Barbara H. Jung review the genetic variants associated with sporadic colorectal cancer (CRC) and potential biomarkers, whereas Ajay Goel and colleagues explain the epigenetic alterations associated with CRC. Douglas J. Robertson and Thomas F. Imperiale review biomarkers in stool samples that are currently used in CRC screening and stool tests in development.

Judy H. Cho and colleagues provide an update on data from genome-wide association studies of inflammatory bowel diseases (IBD), and Marla Dubinsky and Jonathan Braun describe microbial biomarkers that can be used in diagnosis of IBD. Bruce E. Sands reviews blood, stool, and urine markers of intestinal inflammation that might be used to determine IBD activity.

Antonello Pietrangelo covers the genetics of hemochromatosis and tests for the disease, and Jessica Zucman-Rossi et al provide a comprehensive review of the genetic variants associated with hepatocellular carcinoma and markers of tumor phenotypes.

Patrick Tan and Khay-Guan Yeoh review progress in determining the genomic landscape of gastric cancer, which has identified molecules, signaling pathways, and tissue populations associated with gastric malignancy and tumor progression. 

David C. Whitcomb et al present the latest information on genetic testing of individuals with a hereditary predisposition to pancreatic ductal adenocarcinoma (PDAC), to determine not only their risk but possible mechanisms of pathogenesis. These could lead to new surveillance and preventative strategies for PDAC.

This special issue provides a timely reference source for information on precision medicine, biomarkers, and genetics as these move more fully into GI clinics.

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Kristine Novak

Kristine Novak

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About The Author:

Dr. Kristine Novak

Dr. Kristine Novak

Dr. Kristine Novak is a science writer and editor based in San Francisco. She has extensive experience covering gastroenterology, hepatology, immunology, oncology, clinical, and biotechnology research discoveries.

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