Potential of whole-genome sequencing-based pharmacogenetic profiling

Pharmacogenetics represents a major driver of precision medicine, promising individualized drug selection and dosing. Traditionally, pharmacogenetic profiling has been performed using targeted genotyping that focuses on common/known variants. Recently, whole-genome sequencing (WGS) is emerging as a more comprehensive short-read next-generation sequencing approach, enabling both gene diagnostics and pharmacogenetic profiling, including rare/novel variants, in a single assay. Using the example of the pharmacogene CYP2D6, we demonstrate the potential of WGS-based pharmacogenetic profiling as well as emphasize the limitations of short-read next-generation sequencing. In the near future, we envision a shift toward long-read sequencing as the predominant method for gene diagnostics and pharmacogenetic profiling, providing unprecedented data quality and improving patient care.

Automated summary

Pharmacogenetics plays a key role in personalized medicine, with whole-genome sequencing offering a more comprehensive approach to pharmacogenetic profiling. Short-read next-generation sequencing has limitations, and there may be a shift towards long-read sequencing for improved gene diagnostics and pharmacogenetic profiling in the future.