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Pharmaceuticals
Special Issues
Applications of Pharmacogenomics in Precision Medicine
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Applications of Pharmacogenomics in Precision Medicine

A special issue of Pharmaceuticals (ISSN 1424-8247). This special issue belongs to the section "Pharmacology".

Deadline for manuscript submissions: 31 August 2026 | Viewed by 2875

Special Issue Editors

Dr. Kariofyllis Karamperis

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Guest Editor
Laboratory of Pharmacogenomics and Individualized Therapy, Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece
Interests: personalized medicine; pharmacogenomics; evolutionary biology; population genetics; public health genomics
Dr. Branka Zukic

E-Mail Website
Guest Editor
Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, 11 000 Belgrade, Serbia
Interests: pharmacogenomics/pharmacotranscriptomics in various diseases (pediatric acute lymphoblastic leukemia, inflammatory bowel disease, COVID-19); population pharmacogenomics; personalized medicine; molecular basis of personalized treatment of solid tumors (non-small cell lung carcinoma, hepatocellular carcinoma)
Dr. Fernanda Rodrigues-Soares

E-Mail Website
Guest Editor
Instituto de Ciências Biológicas e Naturais—ICBN, Universidade Federal do Triângulo Mineiro—UFTM, Uberaba 3838025-350, MG, Brazil
Interests: pharmacogenomics; personalized medicine; ancestry; ethnic groups
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Pharmacogenomics is a growing backbone of personalized medicine, reshaping drug therapy by accounting for individual genetic variation. With advances in genomic technologies and bioinformatics, clinicians can now better predict drug response, minimize or even prevent adverse drug reactions, and select the most effective treatments tailored to each patient’s genetic profile.

This Special Issue will explore the translational and clinical applications of pharmacogenomics across a broad spectrum of medical fields, including cardiology, psychiatry, oncology, infectious diseases, rare disorders, and beyond. We invite original research articles, reviews, case studies, and methodological papers that examine key areas such as the detection and characterization of novel or known pharmacogenomic variants, their interaction with other drugs (drug–gene interactions), clinical implementation strategies, pharmacogenomics across admixed populations, regulatory frameworks, and ethical considerations.

Particular interest will be given to submissions focused on drug–gene interactions, pharmacogenomic biomarkers, multi-omics integration, and the role of pharmacogenomics in addressing health disparities and advancing precision therapeutics.

By bringing together insights from academia, clinical practice, and industry, this Special Issue aims to highlight the current landscape, innovations, and practical challenges in applying pharmacogenomics to achieve safer, more effective, and individualized patient care.

Dr. Kariofyllis Karamperis
Dr. Branka Zukic
Dr. Fernanda Rodrigues-Soares
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Pharmaceuticals is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • personalized medicine
  • pharmacogenomics
  • drug–gene interactions
  • adverse drug reactions
  • pharmacogenomic biomarkers
  • multi-omics
  • population pharmacogenomics
  • precision therapeutics

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Published Papers (2 papers)

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Research

24 pages, 929 KB  
Article
Analytical and Clinical Validation of Action PharmaKitDx: A Comprehensive NGS Panel for the Identification of Pharmacogenetic Variants in Diverse Populations
by Luis Ramudo-Cela, Marta Izquierdo-García, María Dolores-Sequedo, Vicente Cubells-Perez, Sara Bernal, Pau Riera, Adriana Lasa, Laura Torres-Juan, Victor José Asensio, Iciar Martínez-López, Antonia Obrador de Hevia, Matías Morín, Miguel Ángel Moreno-Pelayo, Greta Carmona-Antoñanzas and Javier Porta Pelayo
Pharmaceuticals 2026, 19(4), 568; https://doi.org/10.3390/ph19040568 - 1 Apr 2026
Viewed by 1105
Abstract
Background/Objectives: Pharmacogenomics (PGx) enables personalized therapy by identifying genetic variants that influence drug response. Despite the advantages of next-generation sequencing (NGS), few clinically validated, guideline-aligned panels comprehensively detect common, rare, and structurally complex pharmacogenetic variants. Methods: We developed and analytically validated [...] Read more.
Background/Objectives: Pharmacogenomics (PGx) enables personalized therapy by identifying genetic variants that influence drug response. Despite the advantages of next-generation sequencing (NGS), few clinically validated, guideline-aligned panels comprehensively detect common, rare, and structurally complex pharmacogenetic variants. Methods: We developed and analytically validated Action PharmaKitDx, a targeted NGS panel covering 335 pharmacogenes, including all priority genes recommended by CPIC, DPWG, and CPNDS. Performance was assessed using Coriell HapMap and GeT-RM reference materials across multiple library preparation workflows and Illumina platforms. Clinical feasibility was evaluated in 41 patient samples from diverse specialties. Results were compared with established reference methods, including PCR-based assays, STR analysis, Sanger sequencing, and whole-exome sequencing. Results: Analytical validation: More than 99% of target bases achieved ≥30× coverage. Analytical accuracy, sensitivity, specificity, and positive predictive value exceeded 99.3%, with repeatability and reproducibility >99.7%. Concordance with GeT-RM haplotypes reached 98% after star-allele harmonization. The panel accurately detected complex variants, including CYP2D6 copy-number changes and hybrid alleles. Clinical validation: Full concordance with prior genotyping was observed in clinical samples. Beyond the initial testing indication, each sample harbored a mean of six actionable variants (range 2–10). Thirty-six rare (minor allele frequency <1%) potentially actionable variants were additionally identified. Conclusions: Action PharmaKitDx demonstrates high analytical performance and broad clinical applicability, supporting its implementation as a scalable solution for comprehensive pharmacogenetic testing and precision prescribing. Full article
(This article belongs to the Special Issue Applications of Pharmacogenomics in Precision Medicine)
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30 pages, 3776 KB  
Article
Pharmacogenomics of Sorafenib in Hepatocellular Carcinoma (HCC): A LncRNA-Expression Guided Approach Using UCA1 and MALAT1 for Personalizing Therapy in a 154-Patient Cohort
by Mahmoud Nazih, Imam Waked, Shimaa Abdelsattar, Hiba S. Al-Amodi, Hala F. M. Kamel, Muhammad Mahmoud Attia, Ahmed I. Khoder, Sahar Badr Hassan and Mohamed Mahmoud Abdel-Latif
Pharmaceuticals 2026, 19(1), 70; https://doi.org/10.3390/ph19010070 - 29 Dec 2025
Cited by 1 | Viewed by 900
Abstract
Background/Objectives: Hepatocellular carcinoma (HCC) presents limited therapeutic options for advanced disease, and sorafenib therapy is hampered by significant interpatient heterogeneity in response. This necessitates biomarker-guided strategies to personalize treatment. This study investigated the long noncoding RNAs UCA1 and MALAT1 as pharmacogenomic biomarkers [...] Read more.
Background/Objectives: Hepatocellular carcinoma (HCC) presents limited therapeutic options for advanced disease, and sorafenib therapy is hampered by significant interpatient heterogeneity in response. This necessitates biomarker-guided strategies to personalize treatment. This study investigated the long noncoding RNAs UCA1 and MALAT1 as pharmacogenomic biomarkers for personalizing sorafenib therapy in advanced HCC. Methods: In a prospective cohort of 154 HCC patients receiving first-line sorafenib (400 mg twice daily), serum lncRNA levels were quantified by RT-qPCR at baseline, Week 4, and Week 12. Expression levels were correlated with treatment response (mRECIST), time-to-progression (TTP), and overall survival (OS). Statistical analyses included Kaplan–Meier estimates, Cox proportional hazards models, and ROC curve analysis. Results: High baseline expression of UCA1 (77.9% of patients) and MALAT1 (73.4%) was associated with aggressive disease. High UCA1 correlated with reduced 12-month survival (60.8% vs. 73.5%, p = 0.026) and shorter median Time-to-Progression (TTP) (18.0 vs. 21.9 weeks, p = 0.002). High MALAT1 was associated with significantly shorter median TTP (18.0 vs. 25.2 weeks, p = 0.003). In multivariable analysis, both lncRNAs were independent prognostic factors for shorter TTP (UCA1: HR = 1.52, p = 0.014; MALAT1: HR = 1.61, p = 0.006). Serial monitoring revealed that a ≥10% rise in either lncRNA by Week 4 predicted a five-fold higher progression risk by Week 12 (52% vs. 10%, p < 0.001), providing a median lead time of 7.0 weeks before radiological confirmation of progression. Conclusions: These findings demonstrate that UCA1 and MALAT1 enable early identification of sorafenib resistance. Baseline stratification and serial monitoring can provide early detection of treatment resistance, informing clinical decision-making and supporting their potential utility for personalizing therapy in advanced HCC. Full article
(This article belongs to the Special Issue Applications of Pharmacogenomics in Precision Medicine)
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