Pharmacogenomic biomarkers for improved drug therapy - recent progress and future developments

This paper aimed to provide an overview of recent advancements in pharmacogenomic biomarkers, which are critical in predicting individual drug responses and reducing adverse drug reactions (ADRs). The review discusses the role of genetic polymorphisms in drug-metabolizing enzymes, particularly cytochrome P450 enzymes, and highlights the importance of rare genetic variants in pharmacogenomics.

It also addresses the challenges of implementing pharmacogenomic biomarkers in clinical practice, emphasizing the need for personalised medicine, especially in oncology.

The authors discussed emerging technologies that facilitate biomarker discovery, including long-read sequencing platforms such as those developed by Oxford Nanopore Technologies (ONT). This technology was highlighted for its potential to overcome challenges associated with short-read sequencing, such as accurately detecting structural variants, copy number variations (CNVs), and repetitive elements, which are important for pharmacogenomic analysis.

Technologies producing long reads enable more comprehensive analysis of complex regions of the genome, such as those found in cytochrome P450 genes, which are critical for drug metabolism.