The Use of Next-Generation Sequencing in Pharmacogenomics

Area of Science:

• Genomics and Precision Medicine
• Clinical Diagnostics
• Pharmacogenomics

Background:

• Next-generation sequencing (NGS) is increasingly adopted in clinical and research settings.
• Pharmacogenomics utilizes genetic information to guide drug therapy.
• Standardization of NGS methods in clinical practice is evolving.

Purpose of the Study:

• To review current laboratory NGS-based diagnostic approaches in pharmacogenomics.
• To compare targeted multi-gene panels, whole-exome sequencing (WES), and whole-genome sequencing (WGS).
• To highlight the potential of WES and WGS for identifying secondary pharmacogenomic findings.

Main Methods:

• Review of current literature on NGS diagnostic approaches in pharmacogenomics.
• Comparison of targeted multi-gene panels, WES, and WGS.
• Analysis of factors influencing pharmacogenomic variant identification.

Main Results:

• Clinical labs use diverse pharmacogenetic panels for cost-efficiency.
• WES and WGS identify secondary pharmacogenomic findings with potential pharmacotherapy implications.
• WGS offers advantages over WES, including improved exome sequencing and non-coding region analysis.
• Variability in study designs impacts pharmacogenomic variant identification.

Conclusions:

• Technological advancements in gene sequencing will address WES and WGS challenges.
• High-throughput NGS pharmacogenomics studies in diverse populations are needed.
• Further research will expand knowledge of rare functional variants and clinical translation.