Genetik in der gastroenterologie - Wohin geht der weg?

Many diseases of the gastrointestinal tract are associated with genetic variations, known as single nucleotide polymorphisms (SNPs). In contrast to classic monogenetic gastrointestinal and hepatic diseases such as hemochromatosis and alpha-1 anti-trypsin deficiency, the role of genetic alterations in polygenetic diseases such as Crohn's disease or sporadic colon cancer is not sufficiently defined. Recently, several genome-wide association scans (GWAS) were performed for different disease entities including inflammatory bowel disease, celiac disease, and sporadic colon cancer. As a result, multiple disease-associated SNPs were identified. Together with functional studies, these results provide the basis for a deeper understanding of the pathophysiology of several disease entities as Crohn's disease or ulcerative colitis. Despite these advances, it has become apparent that the GWAS technology has limitations and is not an ideal tool to identify sets of SNPs which could predict an individual's risk for contracting a disease. Recently, a new technology in genetic testing became available. This technology, known as next generation sequencing, allows whole genome sequencing within short time. Multiple studies employing next generation sequencing are currently under evaluation. This technology will likely prove to be a valid tool to introduce genetic testing for polygenic diseases as a first step into personalized medicine.