The Use of Next-Generation Sequencing in Pharmacogenomics.
Clin Lab
; 69(8)2023 Aug 01.
Article
en En
| MEDLINE
| ID: mdl-37560847
ABSTRACT
BACKGROUND:
Next-generation sequencing (NGS) methods have become more commonly performed in clinical and research laboratories.METHODS:
This review summarizes the current laboratory NGS-based diagnostic approaches in pharmacogenomics including targeted multi-gene panel sequencing, whole-exome sequencing (WES), and whole-genome sequencing (WGS).RESULTS:
Clinical laboratories perform multiple non-uniform types of pharmacogenetic panels, which can reduce the overall number of single-gene tests to be more cost-efficient. Compared to the targeted multi-gene panels, which are not typically designed to detect novel variants, WES and WGS have a greater potential to identify secondary pharmacogenomic findings, which might be predictive for the pharmacotherapy outcome of different patient settings. WGS overcomes the limitations of WES enabling a more accurate exome-sequencing at appropriate coverage and the sequencing of non-coding regions. Different NGS-based study designs with different test strategies and study populations, varying sample sizes, and distinct analytical and interpretation procedures lead to different identification results of pharmacogenomic variants.CONCLUSIONS:
The rapid progress in gene sequencing technologies will overcome the clinical and laboratory challenges of WES and WGS. Further high throughput NGS-based pharmacogenomics studies in different populations and patient settings are necessary to expand knowledge about rare functional variants and to enhance translation in clinical practice.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Farmacogenética
/
Secuenciación de Nucleótidos de Alto Rendimiento
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Clin Lab
Asunto de la revista:
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Año:
2023
Tipo del documento:
Article