Many diseases involving the gastrointestinal organs are inherited or have a genetic predisposition involved in disease expression. a number of these have commercially available tests which will be used for diagnostic or screening purposes in predisposed individuals. Many others have a genetic component that has been identified.
These discoveries are already changing how we diagnose certain conditions and the way we screen relations of patients with these conditions. within the future, we could also be ready to use this information to individually tailor therapies and improve outcomes and quality of life. the aim of this 2-part article is to review this information and to debate the implications for your practice. Here, in part 1, we address inherited carcinoma syndromes, juvenile polyposis, hereditary hemochromatosis, polycystic disease, autoimmune hepatitis, Budd-Chiari syndrome, alpha-1-antitrypsin deficiency, and Wilson disease. during a coming issue, we'll specialise in pancreatitis, celiac sprue, Peutz-Jeghers syndrome, neuroendocrine tumors, hereditary hemorrhagic telangiectasia, and inflammatory bowel disease.