Journal
PHARMACOGENOMICS
Volume 22, Issue 3, Pages 177-190Publisher
FUTURE MEDICINE LTD
DOI: 10.2217/pgs-2020-0155
Keywords
adverse drug reactions; CYP2D6; long-read sequencing; next-generation sequencing; pharmacogenetics; precision medicine; pseudogenes; structural variation
Categories
Funding
- Fondation pour la Recherche et le Traitement Medical (FRTM)
- Gebauer Stiftung
- Lotteriefonds ZH
- G + B Schwyzer Stiftung
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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.
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.
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