Technologies for pharmacogenomics: a review

Lee, M. van der; Kriek, M.; Guchelaar, H.J.; Swen, J.J. (2020)

Article / Letter to editor

The continuous development of new genotyping technologies requires awareness of their potential advantages and limitations concerning utility for pharmacogenomics (PGx). In this review, we provide an overview of technologies that can be applied in PGx research and clinical practice. Most commonly used are single nucleotide variant (SNV) panels which contain a pre-selected panel of genetic variants. SNV panels offer a short turnaround time and straightforward interpretation, making them suitable for clinical practice. However, they are limited in their ability to assess rare and structural variants. Next-generation sequencing (NGS) and long-read sequencing are promising technologies for the field of PGx research. Both NGS and long-read sequencing often provide more data and more options with regard to deciphering structural and rare variants compared to SNV panels-in particular, in regard to the number of variants that can be identified, as well as the option for haplotype phasing. Nonetheless, while useful for research, not all sequencing data can be applied to clinical practice yet. Ultimately, selecting the right technology is not a matter of fact but a matter of choosing the right technique for the right problem.

• pharmacogenomics
• genotype
• phenotype
• next generation sequencing
• long-read sequencing

• All authors: Lee, M. van der; Kriek, M.; Guchelaar, H.J.; Swen, J.J.
• Date: 2020-12-01
• Journal: Genes
• Volume: 11
• Issue: 12
• DOI: doi:10.3390/genes11121456
• Link: https://www.mdpi.com/2073-4425/11/12/1456