Open AccessUtilization of Whole Exome Sequencing Data to Identify Clinically Relevant Pharmacogenomic Variants in Pediatric Inflammatory Bowel Disease
Author(s) -
Daniel J. Mulder,
Sam Khalouei,
Neil Warner,
Claudia GonzagaJauregui,
Peter Church,
Thomas D. Walters,
Arun Ramani,
Anne M. Griffiths,
Iris Cohn,
Aleixo M. Muise
Publication year - 2020
Publication title -
clinical and translational gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.673
H-Index - 35
ISSN - 2155-384X
DOI - 10.14309/ctg.0000000000000263
Subject(s) - medicine , pharmacogenomics , exome sequencing , inflammatory bowel disease , exome , disease , cohort , bioinformatics , gene , genetics , mutation , pharmacology , biology
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.