A multiplex pharmacogenetics assay using the MinION nanopore sequencing device

The main aim of this study was to develop a multiplex pharmacogenetics assay using the Oxford Nanopore MinION sequencing device to detect key genetic variants associated with variable drug responses to clopidogrel and warfarin. These drugs are commonly used anticoagulants, but their efficacy is affected by genetic polymorphisms, particularly in genes such as CYP2C19, CYP2C9, and VKORC1. The goal was to evaluate the potential for a cost-effective, portable sequencing assay that could be used for point-of-care genotyping in clinical settings.

The study utilised the Oxford Nanopore MinION sequencer, a portable and low-cost device, to sequence 84 samples in a single run. Key pharmacogenetic variants were targeted using a multiplex PCR approach followed by nanopore sequencing.

The major findings showed that nanopore sequencing achieved >90% accuracy for most variants. Overall, the assay successfully detected clinically relevant pharmacogenetic variants for clopidogrel and warfarin metabolism, demonstrating the potential for low-cost, high-throughput pharmacogenetic screening using nanopore sequencing.