AI Article Synopsis
- - Pharmacogenetics is a key aspect of precision medicine, allowing for personalized drug choices and dosages based on an individual's genetic makeup.
- - Whole-genome sequencing (WGS) is gaining traction as a more thorough method for pharmacogenetic profiling, detecting both common and rare genetic variants in one test.
- - The future of gene diagnostics in pharmacogenetics may shift towards long-read sequencing, which could enhance data quality and improve overall patient care.
Article Abstract
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 , 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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| http://dx.doi.org/10.2217/pgs-2020-0155 | DOI Listing |
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