Clinical Genomics in Inflammatory Bowel Disease Holm H. Uhlig, Aleixo M. Muise  Trends in Genetics  Volume 33, Issue 9, Pages 629-641 (September 2017) DOI: 10.1016/j.tig.2017.06.008 Copyright © 2017 The Authors Terms and Conditions

Figure 1 Clinical Genomics Integrates Diagnostic and Therapeutic Pathways in Mendelian Disorder-Associated Inflammatory Bowel Disease (IBD). Conventional explanatory genetics is focused on patients with extreme phenotypes (such as infantile onset), long-term therapy-resistant course, and multiple complications. Genomic medicine aims to find an explanation for the therapy-resistant inflammatory activity in these patients. Subsequent genetic investigations can establish a genetic diagnosis but can lead to targeted interventions late in the disease course when irreversible tissue damage has already been caused. By contrast, predictive genomics aims to identify causal genetic variants early in the disease course, thereby allowing targeted treatments that prevent severe complications and tissue damage in a proportion of children, avoiding a long diagnostic and therapeutic odyssey. This strategy requires screening of a larger group of patients. Both strategies integrate interdisciplinary pre- and post-genomic patient assessments. A molecular diagnosis allows counseling of families, screening for infections and tumors in subgroups of patients, and gene- and pathway-dependent interventions. Abbreviations: HSCT, hematopoietic stem cell therapy; Th1/2/17, type 1/2/17 T helper cells Trends in Genetics 2017 33, 629-641DOI: (10.1016/j.tig.2017.06.008) Copyright © 2017 The Authors Terms and Conditions