Written by Ricardo Alves
Published on Vol 5 , 2025
Warfarin has continued to be the leading vitamin K-dependent oral anticoagulant around the globe since its introduction in 1954. Its dosing is notoriously difficult because the medication has a very small therapeutic range and shows broad variability in dose needs across individuals, which has made it one of the most extensively investigated drugs in genotype–phenotype research. Yet, the majority of this work has focused on Asian and White cohorts, resulting in a pharmacogenomic evidence base th
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Precision medicine opens new possibilities for treatments tailored to an individual’s genetic profile, lifestyle habits, and environmental factors. By merging molecular, pathological, and clinical diagnostic data, pharmacists can deliver more targeted pharmaceutical care. This work assessed community pharmacists’ perceived value of precision medicine, their existing knowledge, and the training they believe is required. Across a 10-month period, a previously validated questionnaire—also made avai
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Evidence from forward-looking clinical investigations indicates that using pharmacogenomics (PGx) to guide therapy decisions can lower the occurrence of serious and life-threatening drug complications. The Dutch Pharmacogenetics Working Group (DPWG) designates certain drug–gene interaction (DGI) scenarios that can avert drug-associated mortality as “essential,” yet their combined clinical and economic value has not been fully quantified. This study aims to evaluate the national-level impact and
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Cytochrome P450 2D6 (CYP2D6) is a major enzyme responsible for processing xenobiotics and contributes to the elimination of numerous therapeutic agents. Variation in the CYP2D6 gene produces substantial person-to-person differences in metabolic capacity and can influence how CYP2D6 probe compounds, such as dextromethorphan (DXM), are phenotyped. To explore these effects, we (i) assembled a large DXM pharmacokinetic dataset and (ii) created and verified a physiologically based pharmacokinetic (PB
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Human leukocyte antigen (HLA) molecules appear on the surface of antigen-presenting cells and are essential for adaptive immune function. Within class I genes, several HLA-B variants have been linked to adverse drug reactions (ADRs) and are applied as pharmacogenetic indicators. Although ADRs contribute substantially to hospital admissions and deaths, information describing the distribution of HLA-B pharmacogenetic markers across Arab populations remains limited. In this work, we assessed the oc
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Efavirenz (EFV) and atazanavir (ATV) are key components of antiretroviral therapy (ART) for individuals living with HIV, acting as a non-nucleoside reverse transcriptase inhibitor and a protease inhibitor, respectively. Clinical responses to these drugs vary greatly among patients, particularly regarding adverse drug reactions (ADRs). Previous studies suggest that the UGT1A1*28 and CYP2B6 c.516G>T genetic variants may increase susceptibility to ATV- and EFV-related toxicities. This study investi
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Written by Sara Lindberg
Published on Vol 5 , 2025
Growing efforts have focused on uncovering pharmacogenetic contributors that heighten the likelihood of clozapine-associated agranulocytosis or granulocytopenia (CIAG). Three markers—the SLCO1B3-SCLO1B7 polymorphism (rs149104283) and specific single–residue substitutions in the human leukocyte antigen (HLA) region, HLA-DQB1 (126Q) and HLA-B (158T)—have been linked to elevated CIAG risk. In this analysis, we examined both the clinical impact and economic implications of supplementing existing HLA
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Written by Andre Pacheco
Published on Vol 5 , 2025
India accounts for over 17% of the global population and exhibits extensive genetic heterogeneity, including many clinically important rare variants distributed among numerous sub-groups. These variants remain underrepresented in widely used international reference datasets such as the 1000 Genomes Project (1KG), which contains comparatively few samples from Indian backgrounds. Such resources are crucial for drug discovery and pharmaceutical research, where population diversity is essential for
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A substantial person-to-person variability in clinical outcomes with cyclin-dependent kinase 4 and 6 inhibitors (CDKis) has been documented. Here, we describe a series of five individuals receiving palbociclib or ribociclib who were evaluated through our clinical pharmacology consultation service, which included therapeutic drug monitoring (TDM), pharmacogenetic assessment, and drug–drug interaction review to assist physicians in optimizing CDKi therapy for metastatic breast cancer. Plasma sampl
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Dutasteride and tamsulosin constitute a widely used first-line combination therapy for benign prostatic hyperplasia (BPH). Although this regimen is generally more effective than either drug alone, it is also associated with a higher frequency of adverse drug reactions (ADRs). Regulatory agencies—including the U.S. Food and Drug Administration and the European Medicines Agency—advise caution when prescribing tamsulosin to CYP2D6 poor metabolizers (PMs) receiving CYP3A4 inhibitors. However, no det
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Written by Daniela Sousa
Published on Vol 5 , 2025
To explore the domestic factors affecting the implementation of pharmacogenomics (PGx) and its future prospects in China, we carried out a questionnaire-based survey on PGx applications and testing. The survey was designed on the widely used online platform “Wenjuanxing” (www.wjx.cn) and distributed via the social media app WeChat. Among the 422 respondents, 27.7% were physicians, 31.3% were pharmacists, and 41.0% were researchers. Less than half of the physicians recognized the importance of PG
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Despite its potential, the integration of pharmacogenomics (PGx) testing into clinical practice remains limited, largely due to gaps in education and training. This study investigates healthcare professionals’ (HCPs) knowledge, attitudes, and confidence in applying PGx, using surveys conducted before and after a structured training program. The training program was organized into five modules addressing three main learning goals. Participants completed surveys both prior to and following the tra
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Despite the widespread use of praziquantel (PZQ) for schistosomiasis, little is known about how genetic differences influence its plasma levels and treatment outcomes. This study examined the relationship between pharmacogenetic variations and both drug exposure and therapeutic response in Tanzanian school-aged children infected with Schistosoma mansoni. A total of 340 participants received a single PZQ dose. Stool samples were analyzed using the Kato-Katz technique, and treatment success was ev
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This study explored how variations in pharmacodynamic genes influence prolactin elevation in pediatric and adolescent patients with autism spectrum disorder (ASD) receiving risperidone. Using a retrospective cohort of 124 patients treated with risperidone for at least three months, we analyzed multiple gene variants and devised a novel genetic risk scoring system for the dopamine D2 receptor (DRD2) to simplify haplotype interpretation.While single nucleotide polymorphisms (SNPs) alone did not sh
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In recent years, immunotherapy has gained prominence both as a therapeutic option and as a major topic of cancer research. Despite this progress, the effectiveness of immune checkpoint inhibitors (ICI) in colorectal cancer remains limited, largely because current biomarkers can identify only a small fraction of patients who will benefit. Since chemokine signaling plays a key role in guiding immune cell recruitment and shaping antitumor immunity, this study examined whether alterations in chemoki
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Written by Pawel Zielinski
Published on Vol 5 , 2025
Pharmacogenomics (PGx) focuses on using genetic information to improve and personalize drug therapy. Many clinical centers have already begun incorporating pharmacogenetic testing into routine care. Next-generation sequencing (NGS) is becoming a more comprehensive, efficient, and cost-effective tool for PGx applications. This review outlines the key factors involved in using NGS to guide medication decisions in clinical settings. It examines both the benefits and the challenges associated with a
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