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Potential of whole-genome sequencing-based pharmacogenetic profiling
Sylvan Manuel Caspar1,2, Timo Schneider1, Patricia Stoll1
1Center for Cardiovascular Genetics & Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich 8952, Switzerland.
Pharmacogenomics
|February 1, 2021
Summary
Pharmacogenetics enables personalized medicine through genetic profiling. Whole-genome sequencing (WGS) offers comprehensive insights, but long-read sequencing promises superior data quality for improved patient care.
Area of Science:
- Genomics
- Pharmacology
- Precision Medicine
Background:
- Pharmacogenetics is crucial for personalized medicine, guiding drug selection and dosage.
- Traditional methods use targeted genotyping for known genetic variants.
- Whole-genome sequencing (WGS) offers a comprehensive approach for genetic diagnostics and pharmacogenetic profiling.
Purpose of the Study:
- To evaluate the potential and limitations of WGS for pharmacogenetic profiling.
- To highlight the advantages of WGS in identifying rare and novel variants.
- To project future trends in sequencing technologies for genetic diagnostics.
Main Methods:
- Utilized whole-genome sequencing (WGS) for pharmacogenetic analysis.
- Focused on the CYP2D6 pharmacogene as a case study.
- Compared short-read sequencing limitations with WGS capabilities.
Main Results:
- WGS enables comprehensive pharmacogenetic profiling, including rare variants, in a single assay.
- Short-read sequencing presents limitations in fully capturing pharmacogenetic information.
- Demonstrated the utility of WGS using the CYP2D6 gene example.
Conclusions:
- WGS is a powerful tool for pharmacogenetic profiling, advancing precision medicine.
- Long-read sequencing is anticipated to become the preferred method for gene diagnostics and pharmacogenetics.
- Future adoption of long-read sequencing will enhance data quality and patient care.
Keywords:
CYP2D6adverse drug reactionslong-read sequencingnext-generation sequencingpharmacogeneticsprecision medicinepseudogenesstructural variationMore Related Videos
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