Utilization of Whole Exome Sequencing Data to Identify Clinically Relevant Pharmacogenomic Variants in Pediatric Inflammatory Bowel Disease. Issue 12 (1st December 2020)

• Record Type: Journal Article
• Authors: Mulder, Daniel J.; Khalouei, Sam; Warner, Neil; Gonzaga-Jauregui, Claudia; Church, Peter C.; Walters, Thomas D.; Ramani, Arun K.; Griffiths, Anne M.; Cohn, Iris; Muise, Aleixo M.
• Is Part Of: Clinical and translational gastroenterology. Volume 11:Issue 12(2020)
• Page Start: e00263
• Publication Date: 2020-12-01
• Subjects: Stomach -- Diseases -- Periodicals; Intestines -- Diseases -- Periodicals; Gastroenterology; Gastrointestinal Diseases; Liver Diseases; Intestines -- Diseases; Stomach -- Diseases; Periodical; Periodicals; Fulltext; Internet Resources; Periodicals; Electronic journals; 616.33
• DOI: 10.14309/ctg.0000000000000263
• Languages: English
• ISSNs: 2155-384X

Abstract

Abstract : INTRODUCTION: We hypothesized that variants within clinically relevant pharmacogenes could be identified using a whole exome sequencing data set derived from a cohort of more than 1, 000 patients with inflammatory bowel disease (IBD). METHODS: Pediatric patients diagnosed with IBD underwent whole exome sequencing. We selected 18 genes with supporting literature where specific exonic variants would influence clinical care. RESULTS: We identified actionable pharmacogenomic variants in 63% of patients. Importantly, 5% of patients with IBD were at risk for serious adverse effects from anesthesia and 3% were at increased risk for thrombosis. DISCUSSION: We identified exonic variants in most of our patients with IBD that directly impact clinical care.