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New Trends and Challenges in Pharmacogenomics Research
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New Trends and Challenges in Pharmacogenomics Research

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

Deadline for manuscript submissions: 15 August 2025 | Viewed by 814

Special Issue Editor

Prof. Dr. Youssef Roman

E-Mail Website
Guest Editor
Department of Pharmacy Practice and Administrative Sciences, L.S. Skaggs College of Pharmacy, Idaho State University, 1311 E Central Dr, Meridian, ID 83642, USA
Interests: genomics; pharmacogenomics; drug metabolism; genetic epidemiology; cardiometabolic disorders; gout; uric acid

Special Issue Information

Dear Colleagues,

The field of pharmacogenomics is rapidly growing due to major advancements in sequencing technology. While pharmacogenomics has shown promise in reducing the burden of drug adverse events, the adoption of pharmacogenomics into routine practice has been lagging. Compounded by the limited sample size, the role of pharmacogenomics in early drug development programs remains limited to fully characterize the effect of genetic variability on drug response.

This Special Issue aims to highlight the trends, barriers, and opportunities to move pharmacogenomics from the bench to bed and back again. When shifting from a single gene variant to a polygenic risk assessment to predict the response, novel approaches to account for common and rare variants to assess the patient’s overall response are needed. These approaches will likely be able to optimize patient treatment outcomes as well as the selection of patients in clinical trials. We welcome the submission of both research and review articles to this Special Issue.

Prof. Dr. Youssef Roman
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

  • drug development
  • polygenic risk scores
  • diversity and inclusion
  • complex disease management
  • implementation science
  • genetic ancestry
  • special populations
  • rare variants

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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Research

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10 pages, 814 KiB  
Article
Assessing the Impact of Simplified Language on a Patient-Facing Pharmacogenetic Report: A User Comprehension Study
by Russell Amato, Nicole M. Del Toro-Pagan, Harris Nguyen, Jordan Plummer, Katie Pizzolato, David Krause and Daniel Dowd
J. Pers. Med. 2025, 15(6), 247; https://doi.org/10.3390/jpm15060247 - 12 Jun 2025
Viewed by 304
Abstract
Background: Pharmacogenetics (PGx) is the science of assessing how genetic variation affects drug efficacy, tolerability, and safety. While PGx is an emerging discipline which is becoming standard of care, many providers have misunderstandings about its utility. This is even more of a problem [...] Read more.
Background: Pharmacogenetics (PGx) is the science of assessing how genetic variation affects drug efficacy, tolerability, and safety. While PGx is an emerging discipline which is becoming standard of care, many providers have misunderstandings about its utility. This is even more of a problem for patients, who may perceive that there is a single drug that is “right” for them. The primary objective of this study was to evaluate consumer comprehension of a newly developed patient-facing PGx report. Methods: In this study, we adapted a commercial pharmacogenetic test (Genomind Professional PGx) into a report intended to be more comprehensible to the consumer. The initial translation of the clinical terminology used in the PGx report, into lay terminology was conducted by PharmDs and PhDs who have collectively provided over 20,000 PGx consults to date. These reports were then evaluated with readability scoring software to ensure each translation’s complexity remained ≤8th-grade reading level. A total of 107 participants were recruited to conduct the initial analysis with a goal of achieving a 90% comprehension rate using the Genomind consumer comprehension survey. These participants were also given a modified Minnesota Assessment of Pharmacogenomic Literacy (MAPL™) both before and after the Genomind comprehension survey to assess overall PGx literacy. Results: Ninety-eight (98) out of 107 research participants scored one or zero questions incorrectly, translating to >90% comprehension score on the Genomind consumer comprehension survey. These participants also demonstrated a significant increase in overall pharmacogenetic literacy, as assessed by MAPL after viewing the consumer report and survey. Conclusions: This study found that translating pharmacogenetic test results into lay language may provide individuals with a greater understanding of how their DNA may impact prescribed medications. Full article
(This article belongs to the Special Issue New Trends and Challenges in Pharmacogenomics Research)
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Review

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17 pages, 627 KiB  
Review
Major Allele Frequencies in CYP2C9 and CYP2C19 in Asian and European Populations: A Case Study to Disaggregate Data Among Large Racial Categories
by Horng-Ee Vincent Nieh and Youssef Malak Roman
J. Pers. Med. 2025, 15(7), 274; https://doi.org/10.3390/jpm15070274 - 27 Jun 2025
Viewed by 122
Abstract
CYP2C9 and CYP2C19 are major CYP450 enzymes that heavily influence the hepatic metabolism and bioactivation of many medications, including over-the-counter and narrow therapeutic index drugs. Compared to the wild-type alleles, genetic variants in either gene could potentially alter the pharmacokinetics of widely used [...] Read more.
CYP2C9 and CYP2C19 are major CYP450 enzymes that heavily influence the hepatic metabolism and bioactivation of many medications, including over-the-counter and narrow therapeutic index drugs. Compared to the wild-type alleles, genetic variants in either gene could potentially alter the pharmacokinetics of widely used medications, affect the desired therapeutic outcomes of a drug therapy, or increase the risk of undesired adverse events. The frequency of genetic polymorphisms associated with CYP450 enzymes can widely differ across and between racial and ethnic groups. This narrative review highlights the differences in CYP2C9 and CYP2C19 allele frequencies among European and Asian population subgroups, using published literature. Identifying the substantial differences across European and Asian populations, as well as within Asian subgroups, indicates the need to further scrutinize general population data. Clinical scientists and healthcare providers should advocate for more inclusive clinical pharmacogenomic data and racially and ethnically diverse pharmacogenomic databases. Clinical trials of limited racial and geographical diversity may not necessarily have strong external generalizability for all populations. Furthermore, clinical trials that designate an all-inclusive Asian population consisting of multiple ethnicities may not be adequate due to the perceived genetic differences among Asian subgroups. Gravitating towards a more comprehensive approach to utilizing pharmacogenomic data necessitates granular population-level genetic information which can be leveraged to improve how drug therapies are prescribed, achieve health equity, and advance the future of precision medicine. Full article
(This article belongs to the Special Issue New Trends and Challenges in Pharmacogenomics Research)
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