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Advancements in Diagnostic and Preventive Pharmacogenomics

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pharmacology".

Deadline for manuscript submissions: 31 December 2025 | Viewed by 1541

Special Issue Editor


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Guest Editor
Department of Pharmacology and Toxicology, King’s College Circle, University of Toronto, Toronto, ON M5S 1A8, Canada
Interests: pharmacogenemoics; advanced genome profiling technologies; human genome informatics; accurate personalized medicine

Special Issue Information

Dear Colleagues,

Advancements in diagnostic and preventive pharmacogenomics are revolutionizing the landscape of personalized medicine by leveraging novel genome profiling technologies. These innovations enable the precise detection of individuals’ genetic backgrounds, which are pivotal in understanding their responses to various drugs. High-throughput sequencing, including Next-Generation Sequencing (NGS) and long-read sequencing technologies, as well as comprehensive array-based targeted sequencing, facilitate comprehensive genetic analyses, uncovering gene–drug and gene–gene–drug interactions with unprecedented accuracy. By integrating these technologies into clinical practice, healthcare providers can tailor treatments to the genetic profiles of patients, thereby enhancing therapeutic efficacy and minimizing adverse drug reactions (ADRs). Such precision medicine approaches are particularly beneficial in complex cases where multiple genetic factors influence drug metabolism and response, offering a more holistic view of patient care.

The shift from point-of-care to pre-emptive genotyping represents a paradigm change in pharmacogenomics, with significant implications for preventive healthcare. Such genome screening approaches enable the anticipation and avoidance of potential ADRs. This proactive strategy not only enhances patient safety but also optimizes therapeutic outcomes by selecting the most appropriate drugs based on patients’ genetic predisposition. Moreover, the integration of pharmacogenomic data into electronic health records ensures that genetic information is readily accessible, facilitating informed decision-making by clinicians. As a result, pre-emptive genotyping has the potential to transform pharmacogenomics from a reactive to a preventive discipline, ultimately enhancing the quality and efficiency of healthcare.

Because of this, the correct and accurate detection of pharmacogenes’ star alleles can be considered the first step into the future of pharmacogenomics. The aim of this Special Issue is to compile and present new reports and studies addressing advancements in the genetic profiling of individuals, novel discoveries, and multi-omics technologies for the genetic analysis of drug-related genes. The results will enhance treatment outcomes, especially for those seeking drug stratification in clinical practice. Investigators working in this fascinating area are welcome to submit original research, review articles, case reports, and other relevant manuscripts to our Special Issue.

This Special Issue is supervised by Dr. Alireza Tafazoli, assisted by our Topical Advisory Panel Member Dr. Pantea Kiani (Department of Pharmacology, Utrecht Institute for Pharmaceutical Sciences, Utrecht University).

Dr. Alireza Tafazoli
Guest Editor

Manuscript Submission Information

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Keywords

  • genome profiling
  • pharmacogenetic analysis
  • diagnostic pharmacogenomics
  • pre-emptive pharmacogenomics
  • advanced genotyping technologies

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Published Papers (1 paper)

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Research

17 pages, 320 KiB  
Article
Effect of Genetic Variants on Rosuvastatin Pharmacokinetics in Healthy Volunteers: Involvement of ABCG2, SLCO1B1 and NAT2
by Eva González-Iglesias, Clara Méndez-Ponce, Dolores Ochoa, Manuel Román, Gina Mejía-Abril, Samuel Martín-Vilchez, Alejandro de Miguel, Antía Gómez-Fernández, Andrea Rodríguez-Lopez, Paula Soria-Chacartegui, Francisco Abad-Santos and Jesús Novalbos
Int. J. Mol. Sci. 2025, 26(1), 260; https://doi.org/10.3390/ijms26010260 - 30 Dec 2024
Cited by 1 | Viewed by 1187
Abstract
Statins are the primary drugs used to prevent cardiovascular disease by inhibiting the HMG-CoA reductase, an enzyme crucial for the synthesis of LDL cholesterol in the liver. A significant number of patients experience adverse drug reactions (ADRs), particularly musculoskeletal problems, which can affect [...] Read more.
Statins are the primary drugs used to prevent cardiovascular disease by inhibiting the HMG-CoA reductase, an enzyme crucial for the synthesis of LDL cholesterol in the liver. A significant number of patients experience adverse drug reactions (ADRs), particularly musculoskeletal problems, which can affect adherence to treatment. Recent clinical guidelines, such as those from the Clinical Pharmacogenetics Implementation Consortium (CPIC) in 2022, recommend adjusting rosuvastatin doses based on genetic variations in the ABCG2 and SLCO1B1 genes to minimize ADRs and improve treatment efficacy. Despite these adjustments, some patients still experience ADRs. So, we performed a candidate gene study to better understand the pharmacogenetics of rosuvastatin. This study included 119 healthy volunteers who participated in three bioequivalence trials of rosuvastatin alone or in combination with ezetimibe at the Clinical Trials Unit of the Hospital Universitario de La Princesa (UECHUP). Participants were genotyped using a custom OpenArray from ThermoFisher that assessed 124 variants in 38 genes associated with drug metabolism and transport. No significant differences were observed according to sex or biogeographic origin. A significant increase in t1/2 (pmultivariate(pmv) = 0.013) was observed in the rosuvastatin plus ezetimibe trial compared with the rosuvastatin alone trials. Genetic analysis showed that decreased (DF) and poor function (PF) volunteers for the ABCG2 transporter had higher AUC/DW (adjusted dose/weight), AUC72h/DW and Cmax/DW compared to normal function (NF) volunteers (pmv< 0.001). DF and PF volunteers for SLCO1B1 showed an increase in AUC72h/DW (pmv = 0.020) compared to increased (IF) and NF individuals. Results for ABCG2 and SLCO1B1 were consistent with the existing literature. In addition, AUC/DW, AUC72h/DW and Cmax/DW were increased in intermediate (IA) and poor (PA) NAT2 acetylators (pmv = 0.001, pmv< 0.001, pmv< 0.001, respectively) compared to rapid acetylators (RA), which could be associated through a secondary pathway that was previously unknown. Full article
(This article belongs to the Special Issue Advancements in Diagnostic and Preventive Pharmacogenomics)
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