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Updates in the Use of Pharmacogenetics in Clinical Practice

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Pharmacology".

Deadline for manuscript submissions: 20 September 2026 | Viewed by 689

Special Issue Editors


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Guest Editor
1. Instituto de Investigación Biosanitaria de Granada (Ibs. Granada), 18012 Granada, Spain
2. Hospital Pharmacy, Hospital Universitario San Cecilio, 18016 Granada, Spain
Interests: pharmacogenetics; pharmacogenomics; personalized medicine; clinical implementation; hospital pharmacy; clinical pharmacy; pre-emptive pharmacogenetics

E-Mail Website
Guest Editor
1. Instituto de Investigación Biosanitaria de Granada (Ibs. Granada), 18012 Granada, Spain
2. Hospital Pharmacy, Hospital Universitario San Cecilio, 18016 Granada, Spain
Interests: pharmacogenetics; clinical pharmacology; personalized medicine

Special Issue Information

Dear Colleagues,

Pharmacogenetics has emerged as a powerful tool for guiding drug therapy decisions and improving clinical outcomes through the personalization of treatment. In recent years, its application in routine clinical practice has gained increasing attention across diverse therapeutic areas, such as psychiatry, oncology, cardiology, and pain management. Despite its potential, several barriers still hinder its widespread implementation.

This Special Issue aims to explore the latest advances, practical applications, and future directions of pharmacogenetics in clinical settings. We welcome original research and reviews that highlight the integration of pharmacogenetic testing into clinical systems, real-world data supporting its utility, and novel approaches for interpreting and applying genetic information in patient care.

In this Special Issue, contributions may include but are not limited to clinical implementation studies, guideline development, clinical decisions, and clinical implications of pharmacogenetic testing.

We look forward to your valuable contributions.

Dr. Rocío Morón Romero
Dr. Xando Díaz-Villamarín
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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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 2600 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

  • pharmacogenetics
  • personalized medicine
  • clinical implementation
  • drug response
  • pharmacogenomics
  • precision medicine
  • healthcare integration
  • decision support
  • clinical implications of genetic testing

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Published Papers (1 paper)

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Research

17 pages, 737 KB  
Article
The Early Safety Signal of Sacituzumab Govitecan-Related Toxicity and the UGT1A1*28 Genotype in Metastatic Breast Cancer: A Real-World Preliminary Report
by María Martínez-Pérez, María Teresa Nieto-Sánchez, Xando Díaz-Villamarín, Alicia Torres-García, Emilio Fernández-Varón, Alvaro Prados-Carmona, Marta Legerén, José Cabeza-Barrera, Isabel Blancas and Rocío Morón
J. Clin. Med. 2026, 15(5), 1715; https://doi.org/10.3390/jcm15051715 - 24 Feb 2026
Viewed by 501
Abstract
Background/Objectives: Sacituzumab govitecan (SG) releases SN-38, the same active metabolite as irinotecan, thereby sharing key metabolic pathways and toxicity mechanisms. The clearance of SN-38 is strongly influenced by UGT1A1 polymorphisms, particularly the UGT1A1*28 allele. While UGT1A1*28 genotyping routinely guides irinotecan dosing, no such [...] Read more.
Background/Objectives: Sacituzumab govitecan (SG) releases SN-38, the same active metabolite as irinotecan, thereby sharing key metabolic pathways and toxicity mechanisms. The clearance of SN-38 is strongly influenced by UGT1A1 polymorphisms, particularly the UGT1A1*28 allele. While UGT1A1*28 genotyping routinely guides irinotecan dosing, no such recommendations exist for SG. This study describes the relationship between UGT1A1*28 and severe SG-related toxicity in real-world practice, identifying early safety signals and exploring the clinical and economic impact. Methods: This retrospective observational study (2021–2025) included patients with metastatic breast cancer treated with SG and patients with advanced gastrointestinal malignancies treated with irinotecan at a tertiary hospital. In the SG cohort, genotyping followed grade ≥3 toxicity; in the irinotecan cohort, it was performed prospectively. Toxicity (Common Terminology Criteria for Adverse Events version 5.0) and healthcare costs related to hospitalizations were estimated using official institutional tariffs. Results: All nine SG patients with severe toxicity (100%) carried the UGT1A1*28 allele. In the irinotecan cohort (n = 74), which was managed with genotype-guided dosing, severe toxicity and hospitalization were less frequent. SG was associated with higher mean costs per treated patient (€2817.01 vs. €1233.63), driven by toxicity-related admissions (33.3% vs. 10.8%). Genotyping costs (€10.51) were negligible compared to daily hospitalization expenses (up to €1984.90). Conclusions: Severe SG-related toxicity reveals a consistent UGT1A1*28-associated vulnerability. Given the drug’s recent approval in Spain, these data represent an urgent real-world safety signal. The marked disparity between low genotyping costs and high hospitalization expenses supports implementing preventive UGT1A1 testing to optimize the safety and sustainability of sacituzumab govitecan therapy. Full article
(This article belongs to the Special Issue Updates in the Use of Pharmacogenetics in Clinical Practice)
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