Practical Genetic Testing in Gastroenterology

Abstract

Genetic testing has become increasingly relevant in daily clinical practice due to the identification of susceptibility genes for several diseases. This article focuses on genetic testing for hereditary pancreatitis, inflammatory bowel disease and fatty liver disease. Several genetic variants that contribute to chronic pancreatitis development have been identified. If the individual aetiology of chronic pancreatitis is unclear, genetic testing for common predisposing variants should be offered. Inflammatory bowel diseases are complex and multifactorial disorders. However, rare mono- or oligogenic forms of disease exist and should be screened for, as personalized therapies can be offered to subsets of these patients. Genetic risk factors also promote the manifestation and progression of fatty liver disease, liver cirrhosis and hepatocellular carcinoma. In conclusion, genetic testing plays an increasing role in delineating the pathogenesis of gastroenterological and hepatic diseases, in the stratification of patients at risk for severe disease complications, and in the optimization of patient care.