Largest whole-genome sequencing pharmacogenetics study

Next generation sequencing technologies have been around since the last decade, however, its used in pharmacogenetic studies are limited and in general include fewer samples (Weeke et al. 2014, Yang et al. 2018, Chua et al., 2015, Li et al. 2018). Recently, the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium and investigators from USA and other countries performed the first and the largest whole-genome sequencing pharmacogenetic study from 1,441 children with asthma from the tails of the bronchodilator drug response distribution (Mak et al. 2018).  The aim of the study was to identify common and rare variants associated with albuterol, a bronchodilator, response in ethnically diverse children. A genomewide significant locus and several suggestive loci near to genes related to lung function and immunity were identified. This first whole-genome pharmacogenetics study using the tails of the drug response is a promising approach and hopefully other kinds of pharmacogenomics studies using whole-genome or whole–exome sequencing will become more widely used in future. ​