New Approaches in Pharmacogenomics

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

Deadline for manuscript submissions: 20 January 2026 | Viewed by 1793

Special Issue Editor

Department of Pharmacology and Pharmacogenomics Research Center, College of Medicine, Inje University, Busan, Republic of Korea
Interests: genetic polymorphisms; functional genomics; adverse drug reactions; pharmacogenomics; personalized medicine; drug metabolism;
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Inter-individual variability in drug responses is common and is likely to become increasingly problematic as the elderly population requiring multiple medications grows. The causes of this inter-individual variability mainly include genomic factors. Fortunately, analytical techniques have improved in recent years, so the need to incorporate pharmacogenomics into clinical practice is now recognized in many countries around the world. To reduce inter-individual variability in drug responses and increase drug efficacy and safety, we need to modify the drugs, the routes of administration, and the doses we use. However, despite this need, there is currently a huge knowledge gap in pharmacogenomics among healthcare practitioners, which poses the major dilemma of how incorporate pharmacogenomics into the healthcare system. Therefore, this Special Issue aims to collect efforts and findings on the application of currently developed or revealed pharmacogenomic knowledge and technologies to clinical practice in order to bridge this gap and overcome the dilemma.

Cutting-edge research in pharmacogenomics can create guidelines that can be personalized and applied to humans by verifying the results through prospective clinical trials, clinical cases, and functional genomics.

Suitable topics include drug- and disease-specific pharmacogenomic testing methods, user-friendly decision support tools/software for personalized medicine, collaborative data between genomic experts and healthcare providers, biomarkers for predicting treatment outcomes, innovative treatment approaches based on pharmacogenomics, innovative medical education programs/experiences, and research on integrating pharmacogenomics into clinical practice. In addition, authors are encouraged to submit novel findings on the biological function of genetic variants and their association with disease. Suitable papers include original research, reviews, and updated overviews of pharmacogenetics and pharmacogenomics.

Dr. Su-Jun Lee
Guest Editor

Manuscript Submission Information

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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

  • personalized medicine
  • supporting tools/software for personalized medicine
  • pharmacogenomic test
  • pharmacogenomic education
  • drug response
  • genomic biomarker
  • functional genomics
  • healthcare system

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Published Papers (2 papers)

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Research

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16 pages, 828 KiB  
Article
Enhancing the Integration of Pre-Emptive Pharmacogenetic (PGx) Testing in Primary Care: Prioritizing Underserved Patients’ Preferences in Implementation
by Emma G. Bryan, Kelsey Lunsford, Michaela D. Mullis, Antionette McFarlane, Erica Elwood, Brian E. Gawronski, Julio D. Duarte and Carla L. Fisher
J. Pers. Med. 2024, 14(12), 1128; https://doi.org/10.3390/jpm14121128 - 29 Nov 2024
Cited by 2 | Viewed by 784
Abstract
Background/Objectives: The integration of pharmacogenetic (PGx) testing into primary care has not been widely implemented, despite its benefits for patients and providers. PGx testing could also reduce health disparities as patients with lower healthcare access are prescribed higher proportions of medications with [...] Read more.
Background/Objectives: The integration of pharmacogenetic (PGx) testing into primary care has not been widely implemented, despite its benefits for patients and providers. PGx testing could also reduce health disparities as patients with lower healthcare access are prescribed higher proportions of medications with PGx guidelines. Little is known about the preferences of patients who have experienced PGx testing to inform implementation across the care process. This qualitative study aimed to refine implementation by capturing patient preferences on (1) testing and prescription timing, (2) patient–clinician discussion of results during post-test counseling, and (3) usability of a card during results dissemination. Methods: Interviews were conducted with 25 primary care patients from clinics primarily serving medically underserved populations. Interview transcripts were thematically analyzed using a constant comparative approach. Results: While patients supported both reactive and pre-emptive testing, they valued pre-emptive PGx testing because it is proactive for future health needs, expedites treatment, and is convenient. Patients’ preferences for receiving prescriptions depended on several factors: having immediate access to needed medications, avoiding experiencing medication side effects and interactions, avoiding taking ineffective medications, and avoiding inconveniences. Patients identified three issues critical to patient–clinician interactions when receiving testing results: information specific to medications, clarification and further information about their results, and enhanced clinician accessibility related to the results. Lastly, they liked that the results card could facilitate discussions with clinicians and was informative and convenient but said it lacked clarity. Conclusions: These findings should inform implementation strategies for integrating PGx testing in primary care for underserved patients. Full article
(This article belongs to the Special Issue New Approaches in Pharmacogenomics)
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Review

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27 pages, 809 KiB  
Review
Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance
by Yazun Jarrar, Ghayda’ Alhammadin and Su-Jun Lee
J. Pers. Med. 2025, 15(4), 128; https://doi.org/10.3390/jpm15040128 - 27 Mar 2025
Viewed by 445
Abstract
Individual variations in the active form of vitamin D (Vit.D) arise from a combination of dietary intake, sun exposure, and genetic factors, making it complex and challenging to maintain optimal levels. Among Vit.D-related genes, variations in CYP2R1 and CYP27B1 influence Vit.D synthesis, CYP24A1 [...] Read more.
Individual variations in the active form of vitamin D (Vit.D) arise from a combination of dietary intake, sun exposure, and genetic factors, making it complex and challenging to maintain optimal levels. Among Vit.D-related genes, variations in CYP2R1 and CYP27B1 influence Vit.D synthesis, CYP24A1 regulates its inactivation, and the Vit.D receptor (VDR) mediates Vit.D signaling. These genetic variations contribute to substantial differences in Vit.D concentrations and associated clinical effects. However, there has been a lack of comprehensive, simultaneous exploration of these key genes and their clinical implications. This review provides a systematic analysis of genetic variants in Vit.D-related P450 genes identified in human clinical studies, along with in silico predictions of their functional consequences. Since multiple genes seem to influence the body’s response to Vit.D, studying just one genetic variant may not fully explain Vit.D deficiency. A comprehensive evaluation of all Vit.D-related genes could offer valuable insights for advancing personalized medicine in Vit.D management. This study provides a foundation for developing a more personalized approach to Vit.D supplementation and regulation, guided by genetic information. Full article
(This article belongs to the Special Issue New Approaches in Pharmacogenomics)
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