Technologies for Pharmacogenomics: A Review.

Area of Science:

• Genomics
• Pharmacogenomics
• Biotechnology

Background:

• Advancements in genotyping technologies necessitate an evaluation of their suitability for pharmacogenomics (PGx).
• Understanding the strengths and weaknesses of different genotyping methods is vital for effective PGx research and clinical application.

Purpose of the Study:

• To review current genotyping technologies applicable to pharmacogenomics.
• To compare the advantages and limitations of single nucleotide variant (SNV) panels, next-generation sequencing (NGS), and long-read sequencing for PGx.

Main Methods:

• Literature review of genotyping technologies used in pharmacogenomics.
• Comparative analysis of SNV panels, NGS, and long-read sequencing based on data output, variant detection capabilities (rare and structural), and clinical utility.

Main Results:

• SNV panels offer rapid results and simple interpretation, suitable for clinical settings but limited for rare/structural variants.
• NGS and long-read sequencing provide comprehensive data, enabling detection of rare and structural variants and haplotype phasing, making them powerful research tools.
• Current limitations exist in applying all sequencing data directly to clinical practice.

Conclusions:

• The selection of a genotyping technology for pharmacogenomics depends on the specific research or clinical question.
• SNV panels are practical for routine clinical PGx, whereas NGS and long-read sequencing are more suited for in-depth research and discovery.
• Future advancements may bridge the gap between research capabilities and clinical applicability of advanced sequencing technologies.