Jennifer Tovar, PharmD & Husna Rahim, PharmD
Improving Clinical Outcomes: Next Generation Sequencing and Pharmacogenomics. How has Next Generation Sequencing (NGS) transformed the field of pharmacogenomics (PGx)? NGS, also known as massive parallel sequencing, is a cutting-edge technology that enables rapid, high-throughput sequencing of DNA or RNA. The benefits of NGS-based PGx testing are substantial, including broader detection capabilities, reduced adverse drug reactions (ADRs), and improved healthcare system efficiency.

Multi-gene NGS panels enable proactive interventions. NGS offers broader detection capabilities compared to SNP-based PGx testing traditionally used in clinical practice. It allows for identification of functional genetic variations (FGVs) beyond SNP’s, such as insertions/deletions (InDels) and copy number variations (CNVs) (Gebert et al, 2021). Multi-gene NGS panels detect clinically actionable variants before drug initiation, enabling proactive interventions. To accelerate the benefits of genomic medicine, embedding these panels into routine diagnostics creates permanent genomic records for lifetime therapeutic guidance.
NGS can help predict which patients are likely to require dose adjustments. Comprehensive PGx analysis prevents harmful drug-gene interactions. By providing a more complete picture of a patient’s genetic makeup, NGS can help predict which patients are likely to experience adverse drug reactions or require dose adjustments. (Bousman, et al. 2021). These insights allow medical professionals to refine therapeutic strategies by understanding potential drug responses and side effects better. For patients and healthcare professionals, this translates to fewer hospitalizations and improved medication safety.
Balancing cost-effectiveness with high specificity. NGS technology’s ability to sequence multiple genes simultaneously enables the creation of comprehensive PGx panels, improving healthcare system efficiency. These panels assess numerous drug-gene interactions in a single test, providing a holistic view of an individual’s potential drug responses. Multi-gene NGS panels detect clinically actionable variants before drug initiation, balancing cost-effectiveness with high specificity (Mahmoud et al, 2024). As NGS platforms become economically feasible and faster, a broader implementation within clinical settings could result (Ji, et al. 2018).
Learn more about UGenome’s Personalized Medication Service, ProPEx, or contact UGenome. You can also find case studies for UGenome’s bioinformatics services Metabolite Identification, Bone Metastasis Risk Analysis in Breast Cancer, Survival Analysis with gene signatures in cancer
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