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© 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

Background/Objectives: The clinical implementation of pharmacogenetics (PGx) remains limited, even for well-established drug–gene interactions. In addition to insufficient infrastructure and PGx education among healthcare professionals, there is currently no consensus regarding which genetic variants should be tested, the most appropriate testing approach (e.g., single-gene vs. multi-gene panels), or how to translate genotypes into actionable therapeutic recommendations. Methods: We describe the implementation of PGx in real daily clinical routine at a single institution to guide other centers. We analyze the drug–gene interactions and genetic variants included in our program based on allelic, genotypic, and phenotypic frequencies, resulting therapeutic recommendations. Linkage disequilibrium and haplotype analyses are also performed. Results and Conclusions: PGx testing was primarily requested by the oncology department. Not all variants included in typical panels had clinical utility in our setting. We do not recommend testing CYP2C19*17 prior to clopidogrel prescription, as it does not translate into a dosing recommendation. TPMT*3B may be considered just to confirm TPMT*3A due to its linkage with TPMT*3C. Similarly, we do not recommend the routine testing of CYP2C9*2 prior to siponimod prescription, as it does not inform therapeutic decisions according to the current drug label.

Details

Title
Clinical Pharmacogenetics: Results After Implementation of Preemptive Tests in Daily Routine
Author
Díaz-Villamarín Xando 1   VIAFID ORCID Logo  ; Martínez-Pérez María 2 ; Nieto-Sánchez, María Teresa 2   VIAFID ORCID Logo  ; Fernández-Varón Emilio 3   VIAFID ORCID Logo  ; Torres-García, Alicia 1   VIAFID ORCID Logo  ; Blancas Isabel 4   VIAFID ORCID Logo  ; Cabeza-Barrera, José 5   VIAFID ORCID Logo  ; Morón Rocío 2   VIAFID ORCID Logo 

 Instituto de Investigación Biosanitaria de Granada (Ibs. Granada), 18012 Granda, Spain 
 Instituto de Investigación Biosanitaria de Granada (Ibs. Granada), 18012 Granda, Spain, Hospital Pharmacy, Hospital Universitario San Cecilio, 18016 Granada, Spain 
 Department of Pharmacology, Center for Biomedical Research (CIBM), University of Granada, 18016 Granada, Spain 
 Medical Oncology, Hospital Universitario San Cecilio, 18016 Granada, Spain 
 Hospital Pharmacy, Hospital Universitario San Cecilio, 18016 Granada, Spain 
First page
245
Publication year
2025
Publication date
2025
Publisher
MDPI AG
e-ISSN
20754426
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3223914365
Copyright
© 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.