ArticlePharmaceutics2023
A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact.
Article in Pharmaceutics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- [Selection of pharmacogenomic variants and methodology for their use in community pharmacy].Farmaceuticos comunitarios · 2024Pooled it
- The Spanish Polygenic Score reference distribution: a resource for personalized medicine.European journal of human genetics : EJHG · 2026Article
- Impact of Complex Genetic and Drug-Drug Interactions on Tamoxifen Metabolism and Efficacy.Journal of personalized medicine · 2025Review
- Clinical Pharmacogenetics: Results After Implementation of Preemptive Tests in Daily Routine.Journal of personalized medicine · 2025Article
- Comprehensive pharmacogenomics profiling of the Serbian population.Frontiers in pharmacology · 2025Article
- Leveraging long-read sequencing technologies for pharmacogenomic testing: applications, analytical strategies, challenges, and future perspectives.Frontiers in genetics · 2025Review
- Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.Frontiers in genetics · 2025Article
- [Pharmaceutical Indication Service in a case of palmar-plantar erythema after amoxicillin and ibuprofen treatment].Farmaceuticos comunitarios · 2024Article
- Prevalence of actionable pharmacogenetic variants and high-risk drug prescriptions: A Swiss hospital-based cohort study.Clinical and translational science · 2024Article
- A Pharmacogenetic Panel-Based Prediction of the Clinical Outcomes in Elderly Patients with Coronary Artery Disease.Pharmaceutics · 2024Article
- Article
- Update on the PriME-PGx initiative: evolution of pharmacogenetics in daily clinical practice.Pharmacogenomics · 2024Review
- Review
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
The implementation of pharmacogenetics (PGx) is a main milestones of precision medicine nowadays in order to achieve safer and more effective therapies. Nevertheless, the implementation of PGx diagnostics is extremely slow and unequal worldwide, in part due to a lack of ethnic PGx information. We analysed genetic data from 3006 Spanish individuals obtained by different high-throughput (HT) techniques. Allele frequencies were determined in our population for the main 21 actionable PGx genes associated with therapeutical changes. We found that 98% of the Spanish population harbours at least one allele associated with a therapeutical change and, thus, there would be a need for a therapeutical change in a mean of 3.31 of the 64 associated drugs. We also identified 326 putative deleterious variants that were not previously related with PGx in 18 out of the 21 main PGx genes evaluated and a total of 7122 putative deleterious variants for the 1045 PGx genes described. Additionally, we performed a comparison of the main HT diagnostic techniques, revealing that after whole genome sequencing, genotyping with the PGx HT array is the most suitable solution for PGx diagnostics. Finally, all this information was integrated in the Collaborative Spanish Variant Server to be available to and updated by the scientific community.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.