Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

Abstract

Pediatric medicine: Diagnostic sequencing offers useful pharmacogenetic data, too Genome sequencing, in addition to helping diagnose disease, can inform medication decisions and improve drug safety for children. Ronald Cohn, Shinya Ito and colleagues at the Hospital for Sick Children in Toronto, Canada, studied a cohort of 98 pediatric patients who had undergone whole genome sequencing to help diagnose their unexplained congenital malformations or neurodevelopmental disorders. The researchers looked for 67 DNA variants found in 19 genes with known effects on drug responses. They used targeted genotyping to assess the accuracy of the sequence data. Sequencing proved to be more than 99% accurate for all but one of the pharmacologically important genes, showing the power of diagnostic genomic sequencing to identify DNA variants in children that affect medication safety and effectiveness. However, the accuracy of the method may need to be validated for each relevant gene.