Symposium on precision medicineIndividualized Medicine in Gastroenterology and Hepatology
Section snippets
Inflammatory Bowel Diseases
Inflammatory bowel diseases, including ulcerative colitis (UC) and Crohn disease (CD), are chronic relapsing and remitting diseases that result in immune-mediated damage to the gut and other organs or systems. The incidence and prevalence of both CD and UC have increased significantly during the 20th century (P<.05).1 For example, in Olmsted County, Minnesota, the incidence of CD increased from 5.8 to 133 cases per 100,000 person-years2 and that of UC increased from 7.6 to 299 cases per 100,000
Hereditary Cholestatic Liver Disease
Chronic cholestasis is a serious and devastating component of both pediatric and adult liver diseases that is either inherited or acquired.24 Clinically, cholestasis is defined by increased serum hyperbilirubinemia and increased alkaline phosphatase levels due to impairment of bile flow. Anatomically, cholestasis is categorized as intrahepatic (caused by a diverse group of hepatobiliary diseases with overlapping clinical presentations) or extrahepatic (largely due to obstructive lesions of the
Familial Colon Cancer Syndromes
Colorectal cancer (CRC) is the third most commonly diagnosed cancer and the third leading cause of cancer deaths in the United States. Although most CRCs appear to be sporadic age-related cancers (mean age at diagnosis, 65 years), approximately 20% of CRCs occur in familial aggregates, having varying patterns of apparent disease penetrance and inheritance (Table 5).52 Among the CRCs with a familial component, known genetic conditions account for a small fraction of these patients. The 2
Conclusion
Over the past decade the genetic basis of selected digestive diseases has been elucidated. These advances coupled with the availability of NGS methodologies for clinical testing will further the genomic understanding of several gastrointestinal tract and liver diseases, with the potential to improve prognostication in and therapies for these patients.
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Cited by (7)
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel
2023, Scientific ReportsImplementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
2023, Journal of Translational MedicineMilestones of Precision Medicine: An Innovative, Multidisciplinary Overview
2021, Molecular Diagnosis and TherapyCurrent situation and problems in diagnosis and treatment of sphincter of oddi dysfunction
2018, World Chinese Journal of Digestology
Grant Support: The work was supported by the Mayo Clinic's Center for Individualized Medicine, the Everett J. and Jane M. Hauck Associate Director endowment for the Center for Individualized Medicine, and the William O. Lund, Jr. and Natalie C. Lund Charitable Foundation.
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