Clinical and translational gastroenterology · 2020
Utilization of Whole Exome Sequencing Data to Identify Clinically Relevant Pharmacogenomic Variants in Pediatric Inflammatory Bowel Disease.
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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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
Аннотация
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.
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.