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Pharmacogenomics: Current Status and Future Perspectives
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Pharmacogenomics: Current Status and Future Perspectives

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Pharmacogenetics".

Deadline for manuscript submissions: closed (5 February 2024) | Viewed by 4962

Special Issue Editor

Dr. Marta Miarons Font

E-Mail Website
Guest Editor
Hospital Universitari Vall d'Hebron, Barcelona, Spain
Interests: pharmacogenetics; pharmacogenomics; pharmacokinetics; drug evaluation

Special Issue Information

Dear Colleagues,

The purpose of this Special Issue, “Pharmacogenomics: Current Status and Future Perspectives”, is two-fold: (1) to shed light on the progress made in the last years in the Pharmacogenetics and Pharmacogenomics field and on its future challenges to provide a thorough overview of the state of the art in this area of research, and (2) to focus on new insights, novel developments, current challenges, latest discoveries, recent advances and future perspectives in this field.

This Special Issue aims to collect articles to increase the knowledge in the pharmacogenetics area and its implementation in the clinical setting. In this Special Issue, original research articles and reviews are welcome. Research areas may include the following: pharmacogenetics, clinical implementation of pharmacogenetics and identification of genetic factors associated with drug responses in clinical setting, between others.

I would like to invite you, experts and beginners in the field of pharmacogenomics, to contribute to this Special Issue with your research, in order to accelerate the implementation of pharmacogenomic procedures in drug development and clinical practice.

Dr. Marta Miarons Font
Guest Editor

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 100 words) can be sent to the Editorial Office for announcement on this website.

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 Personalized Medicine 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 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
  • pharmacogenomics
  • biomarkers
  • polymorphism
  • precision medicine
  • genetics
  • drug therapy

Published Papers (3 papers)

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Research

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14 pages, 559 KiB  
Article
The Case for Pre-Emptive Pharmacogenetic Screening in South Africa
by Tracey Hurrell, Jerolen Naidoo, Collen Masimirembwa and Janine Scholefield
J. Pers. Med. 2024, 14(1), 114; https://doi.org/10.3390/jpm14010114 - 19 Jan 2024
Viewed by 1256
Abstract
Lack of equitable representation of global genetic diversity has hampered the implementation of genomic medicine in under-represented populations, including those on the African continent. Data from the multi-national Pre-emptive Pharmacogenomic Testing for Preventing Adverse Drug Reactions (PREPARE) study suggest that genotype guidance for [...] Read more.
Lack of equitable representation of global genetic diversity has hampered the implementation of genomic medicine in under-represented populations, including those on the African continent. Data from the multi-national Pre-emptive Pharmacogenomic Testing for Preventing Adverse Drug Reactions (PREPARE) study suggest that genotype guidance for prescriptions reduced the incidence of clinically relevant adverse drug reactions (ADRs) by 30%. In this study, hospital dispensary trends from a tertiary South African (SA) hospital (Steve Biko Academic Hospital; SBAH) were compared with the drugs monitored in the PREPARE study. Dispensary data on 29 drugs from the PREPARE study accounted for ~10% of total prescriptions and ~9% of the total expenditure at SBAH. VigiLyze data from the South African Health Products Regulatory Authority were interrogated for local ADRs related to these drugs; 27 were listed as being suspected, concomitant, or interacting in ADR reports. Furthermore, a comparison of pharmacogene allele frequencies between African and European populations was used to frame the potential impact of pre-emptive pharmacogenetic screening in SA. Enumerating the benefit of pre-emptive pharmacogenetic screening in SA will only be possible once we initiate its full application. However, regional genomic diversity, disease burden, and first-line treatment options could be harnessed to target stratified PGx today. Full article
(This article belongs to the Special Issue Pharmacogenomics: Current Status and Future Perspectives)
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16 pages, 702 KiB  
Article
Food Administration and Not Genetic Variants Causes Pharmacokinetic Variability of Tadalafil and Finasteride
by Gonzalo Villapalos-García, Pablo Zubiaur, Cristina Marián-Revilla, Paula Soria-Chacartegui, Marcos Navares-Gómez, Gina Mejía-Abril, Andrea Rodríguez-Lopez, Eva González-Iglesias, Samuel Martín-Vílchez, Manuel Román, Dolores Ochoa and Francisco Abad-Santos
J. Pers. Med. 2023, 13(11), 1566; https://doi.org/10.3390/jpm13111566 - 31 Oct 2023
Cited by 1 | Viewed by 1583
Abstract
Tadalafil and finasteride are used in combination for the management of benign prostatic hyperplasia (BPH). Genetic variations in genes involved in the metabolism and transport of tadalafil or finasteride (i.e., pharmacogenes) could affect their pharmacokinetic processes altering their drug exposure, efficacy, and toxicity. [...] Read more.
Tadalafil and finasteride are used in combination for the management of benign prostatic hyperplasia (BPH). Genetic variations in genes involved in the metabolism and transport of tadalafil or finasteride (i.e., pharmacogenes) could affect their pharmacokinetic processes altering their drug exposure, efficacy, and toxicity. The main objective of this study was to investigate the effects of variants in pharmacogenes on the pharmacokinetics of tadalafil and finasteride. An exploratory candidate gene study involving 120 variants in 33 genes was performed with 66 male healthy volunteers from two bioequivalence clinical trials after administration of tadalafil/finasteride 5 mg/5 mg under fed or fasting conditions. Afterwards, a confirmatory study was conducted with 189 male and female volunteers receiving tadalafil 20 mg formulations in seven additional bioequivalence clinical trials. Regarding tadalafil, fed volunteers showed higher area in the time-concentration curve (AUC∞), maximum plasma concentration (Cmax), and time to reach Cmax (tmax) compared to fasting volunteers; male volunteers also showed higher AUC∞ and Cmax compared to female volunteers. Furthermore, fed volunteers presented higher finasteride AUC∞, Cmax and tmax compared to fasting individuals. Variants in ABCC3, CYP1A2, CES1, NUDT15, SLC22A1/A2 and UGT2B10 were nominally associated with pharmacokinetic variation in tadalafil and/or finasteride but did not remain significant after correction for multiple comparisons. Genetic variation did not demonstrate to clinically impact on the pharmacokinetics of finasteride and tadalafil; however, additional studies with larger sample sizes are needed to assess the effect of rare variants, such as CYP3A4*20 or *22, on tadalafil and finasteride pharmacokinetics. Full article
(This article belongs to the Special Issue Pharmacogenomics: Current Status and Future Perspectives)
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Review

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13 pages, 683 KiB  
Review
The Genetics behind Sulfation: Impact on Airway Remodeling
by Charikleia Ntenti, Eleni Papakonstantinou, Liana Fidani, Daiana Stolz and Antonis Goulas
J. Pers. Med. 2024, 14(3), 248; https://doi.org/10.3390/jpm14030248 - 25 Feb 2024
Viewed by 1265
Abstract
In COPD, chronic inflammation and exposure to irritants, such as cigarette smoke, lead to the thickening of bronchial walls. This results from increased deposition of collagen and other extracellular matrix components, contributing to the narrowing of airways. Nevertheless, it is widely recognized that [...] Read more.
In COPD, chronic inflammation and exposure to irritants, such as cigarette smoke, lead to the thickening of bronchial walls. This results from increased deposition of collagen and other extracellular matrix components, contributing to the narrowing of airways. Nevertheless, it is widely recognized that COPD is an inflammatory disorder marked by partially reversible airflow limitation wherein genetic factors interact with the environment. In recent years, numerous investigations have substantiated the correlation between gene polymorphisms and COPD. SUMF1 has been implicated in diverse cellular processes, including lysosomal function and extracellular matrix maintenance, both of which play pivotal roles in respiratory health. The genetic variations in SUMF1 could lead to an imbalanced sulfation in the extracellular matrix of lung tissue, potentially playing a role in the onset of COPD. Recent studies have uncovered a potential link between dysregulation of SUMF1 and COPD progression, shedding light on its involvement in the abnormal sulfatase activity observed in COPD patients. Through a comprehensive review of current literature and experimental findings, this article aims to contribute to the growing body of knowledge surrounding the genetic intricacies concerning sulfation of airway remodeling and possible pharmacological applications in COPD and asthma management. Full article
(This article belongs to the Special Issue Pharmacogenomics: Current Status and Future Perspectives)
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