Pharmacogenetics and Pharmacogenomics: Driving Forces in Modern Precision Medicine

A Special Issue of Biomedicines (ISSN 2227-9059) belonging to the section "Drug Discovery, Development and Delivery".

Deadline for manuscript submissions: 31 October 2026 | Viewed by 1376

Editors


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Guest Editor
1. Research Unit, Fundación Burgos por la Investigación de la Salud (FBIS), Hospital Universitario de Burgos, 09006 Burgos, Spain
2. Facultad de Ciencias de la Salud, Universidad de Burgos, 09002 Burgos, Spain
Interests: pharmacogenetics; pharmacogenomics; precision medicine

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Guest Editor
1. Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Catalonia, Spain
2. Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA
Interests: precision medicine; genomics; women’s health; pharmacogenomics

Special Issue Information

Dear Colleagues,

Pharmacogenetics and pharmacogenomics have emerged as pivotal components of modern precision medicine, enabling the optimization of therapeutic interventions through the understanding of individual genetic variability. This Special Issue aims to highlight innovative research and comprehensive reviews that explore the role of genetic and genomic factors in modulating drug response, toxicity, and treatment outcomes.

We welcome contributions on a wide range of topics, including the identification and clinical implementation of pharmacogenetic biomarkers, the development and application of polygenic risk scores in predicting drug response, and studies addressing phenoconversion and its impact on drug metabolism and therapeutic efficacy. Manuscripts focused on underrepresented patient populations, including ethnic minorities or individuals with rare diseases, are strongly encouraged, as these studies are essential to ensure equity and the broader applicability of pharmacogenomic insights.

Additionally, we invite submissions that explore methodological advances, real-world implementation strategies, and the integration of pharmacogenomics into clinical guidelines.

This Special Issue seeks to provide a comprehensive and inclusive overview of current progress in the field, aiming to bridge the gap between genomic research and clinical practice in the pursuit of truly personalized medicine.

Dr. Miriam Saiz-Rodríguez
Dr. Dora Koller
Guest Editors

Manuscript Submission Information

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Keywords

  • pharmacogenetics
  • pharmacogenomics
  • precision medicine
  • polygenic risk scores
  • phenoconversion
  • drug response
  • genetic biomarkers
  • personalized therapy
  • underrepresented populations
  • clinical implementation

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Published Papers (1 paper)

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Research

17 pages, 620 KB  
Article
Impact of CYP and ABCB1 Polymorphisms on Bortezomib-Induced Adverse Events in Multiple Myeloma
by Antonio Sanz-Solas, Noelia Pérez-Gómez, Jorge Labrador, Beatriz Cuevas, María Victoria Cuevas, Francisco Javier Díaz-Gálvez, Gerardo Hermida, Rodolfo Álvarez-Nuño, Gonzalo Benzo, Cristina Alonso-Madrigal, María González-Oter, Natalia García-Sancha, Raquel Vinuesa, Andrea Rodríguez-Lopez, Jesús Novalbos, Natalia Busto, Raquel Alcaraz, Francisco Abad-Santos and Miriam Saiz-Rodríguez
Biomedicines 2026, 14(4), 805; https://doi.org/10.3390/biomedicines14040805 - 1 Apr 2026
Viewed by 894
Abstract
Purpose: Bortezomib (BTZ) is widely used in multiple myeloma (MM), but its toxicity shows marked interindividual variability. This study aimed to identify pharmacogenetic and clinical factors associated with BTZ-related adverse drug reactions (ADRs). Methods: A retrospective and prospective observational study was [...] Read more.
Purpose: Bortezomib (BTZ) is widely used in multiple myeloma (MM), but its toxicity shows marked interindividual variability. This study aimed to identify pharmacogenetic and clinical factors associated with BTZ-related adverse drug reactions (ADRs). Methods: A retrospective and prospective observational study was conducted in 127 MM patients treated with BTZ-based regimens. Polymorphisms in CYP enzymes and ABCB1 were genotyped using qPCR. Associations between genetic variants, treatment response, and ADRs were assessed using univariate and multivariate analyses with Benjamini–Hochberg correction. Results: ADRs occurred in 98.4% of patients, most commonly gastrointestinal toxicity (49%), general toxicity (46%), and peripheral neuropathy (39%). Women showed higher rates of gastrointestinal toxicity and non-peripheral neurotoxicity. Multivariate analysis identified the ABCB1 C1236T A/G genotype as protective against gastrointestinal toxicity, while the CYP3A4 intermediate metabolizer phenotype was associated with increased psychiatric toxicity. TP53 mutations were independently associated with hematologic and renal toxicity. Kaplan–Meier analysis showed earlier onset of peripheral neuropathy and respiratory toxicity in CYP3A4 intermediate and poor metabolizers. Conclusions: Genetic variation in ABCB1 and CYP3A4, together with clinical factors such as TP53 mutation and sex, may contribute to interindividual variability in BTZ safety in MM. These findings should be considered exploratory given the sample size and require confirmation in larger cohorts. Nonetheless, they suggest a potential role for pharmacogenomics in supporting future approaches to treatment personalization. Full article
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