Utilization of Whole Exome Sequencing Data to Identify Clinically Relevant Pharmacogenomic Variants in Pediatric Inflammatory Bowel Disease.
Clin Transl Gastroenterol
; 11(12): e00263, 2020 12.
Article
en En
| MEDLINE
| ID: mdl-33512800
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trombosis
/
Colitis Ulcerosa
/
Enfermedad de Crohn
/
Variantes Farmacogenómicas
/
Secuenciación del Exoma
Tipo de estudio:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Child
/
Humans
Idioma:
En
Revista:
Clin Transl Gastroenterol
Año:
2020
Tipo del documento:
Article
País de afiliación:
Canadá