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Pharmacogenomics from Research to Current Practice
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Pharmacogenomics from Research to Current Practice

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

Deadline for manuscript submissions: 20 June 2024 | Viewed by 4448

Special Issue Editors

Dr. Xander Van Wijk

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Guest Editor
Medical and Scientific Affairs, Beckman Coulter Diagnostics, Brea, CA, USA
Interests: pharmacogenomics; cardiac biomarkers; clinical chemistry; toxicology
Dr. Natalie Reizine

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Guest Editor
Division of Hematology/Oncology, Department of Medicine, University of Illinois at Chicago, Chicago, IL 60612, USA
Interests: pharmacogenomics; personalized therapeutics; medical oncology
Prof. Dr. Johannes Mosbacher

E-Mail Website
Guest Editor
Precision Pharmaceuticals, University of Applied Sciences Northwestern Switzerland, Muttenz, Switzerland
Interests: pharmacotherapeutics; drug discovery; neurosciences

Special Issue Information

Dear Colleagues,

The response rates to many marketed drugs against major diseases range from an acceptable 80% to only 25%, meaning that many patients experience no benefits from current drug treatments. Even worse, those patients may still experience adverse drug reactions (ADRs), which account for thousands of hospital admissions, and their impact and management costs up to 30 billion dollars annually in the USA alone. Pharmacogenomics (PGx) predicts how individuals will absorb, metabolize, and respond to a drug based on their genotype. It is estimated that ~50% of patients receive at least one drug in a 1-year period that has such drug–gene interactions (DGIs), and that in about one-third of those, drugs show significantly altered pharmacokinetic (PK) or pharmacodynamic (PD) properties. Therefore, prediction of those DGIs through PGx testing holds high potential to decrease healthcare costs by improving drug efficacy and reducing ADRs. At research level, PGx testing is well established and affordable.

The translation into clinical practice, however, has been slow, possibly due to barriers such as 1) trust in the predictivity of PGx testing; 2) lack of PGx data integration in EHR for automated clinical decision support; 3) complexity of interpretation of genotype data; 4) limited data showing cost-effectiveness; and 5) treatment delays when waiting for PGx data.

This Special Issue aims to discuss how to break those barriers, highlighting current developments in PGx research, laboratory aspects, specific drug considerations, and sharing experiences and examples towards clinical implementation.

Dr. Xander Van Wijk
Dr. Natalie Reizine
Prof. Dr. Johannes Mosbacher
Guest Editors

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

  • pharmacogenomics

  • genetic testing
  • clinical implementation
  • adverse drug reactions
  • pharmacokinetics
  • pharmacodynamics
  • therapeutic drug monitoring
  • pharmacogenetics
 

Published Papers (2 papers)

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Research

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14 pages, 8185 KiB  
Communication
Pharmacogenetics and Adverse Events in the Use of Fluoropyrimidine in a Cohort of Cancer Patients on Standard of Care Treatment in Zimbabwe
by Boluwatife Lawrence Afolabi, Tinashe Mazhindu, Chikwambi Zedias, Margaret Borok, Ntokozo Ndlovu, Collen Masimirembwa and on behalf of Consortium for Genomics and Therapeutics in Africa (CGTA)
J. Pers. Med. 2023, 13(4), 588; https://doi.org/10.3390/jpm13040588 - 28 Mar 2023
Cited by 1 | Viewed by 1686
Abstract
Fluoropyrimidines are commonly used in the treatment of colorectal cancer. They are, however, associated with adverse events (AEs), of which gastrointestinal, myelosuppression and palmar-plantar erythrodysesthesia are the most common. Clinical guidelines are used for fluoropyrimidine dosing based on dihydropyrimidine dehydrogenase (DPYD) [...] Read more.
Fluoropyrimidines are commonly used in the treatment of colorectal cancer. They are, however, associated with adverse events (AEs), of which gastrointestinal, myelosuppression and palmar-plantar erythrodysesthesia are the most common. Clinical guidelines are used for fluoropyrimidine dosing based on dihydropyrimidine dehydrogenase (DPYD) genetic polymorphism and have been shown to reduce these AEs in patients of European ancestry. This study aimed to evaluate, for the first time, the clinical applicability of these guidelines in a cohort of cancer patients on fluoropyrimidine standard of care treatment in Zimbabwe. DNA was extracted from whole blood and used for DPYD genotyping. Adverse events were monitored for six months using the Common Terminology Criteria for AEs (CTCAE) v.5.0. None of the 150 genotyped patients was a carrier of any of the pathogenic variants (DPYD*2A, DPYD*13, rs67376798, or rs75017182). However, severe AEs were high (36%) compared to those reported in the literature from other populations. There was a statistically significant association between BSA (p = 0.0074) and BMI (p = 0.0001) with severe global AEs. This study has shown the absence of the currently known actionable DPYD variants in the Zimbabwean cancer patient cohort. Therefore, the current pathogenic variants in the guidelines might not be feasible for all populations hence the call for modification of the current DPYD guidelines to include minority populations for the benefit of all diverse patients. Full article
(This article belongs to the Special Issue Pharmacogenomics from Research to Current Practice)
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Case Report
Pharmacogenetic Analysis Enables Optimization of Pain Therapy: A Case Report of Ineffective Oxycodone Therapy
by Florine M. Wiss, Céline K. Stäuble, Henriette E. Meyer zu Schwabedissen, Samuel S. Allemann and Markus L. Lampert
J. Pers. Med. 2023, 13(5), 829; https://doi.org/10.3390/jpm13050829 - 13 May 2023
Cited by 2 | Viewed by 2134
Abstract
Patients suffering from chronic pain may respond differently to analgesic medications. For some, pain relief is insufficient, while others experience side effects. Although pharmacogenetic testing is rarely performed in the context of analgesics, response to opiates, non-opioid analgesics, and antidepressants for the treatment [...] Read more.
Patients suffering from chronic pain may respond differently to analgesic medications. For some, pain relief is insufficient, while others experience side effects. Although pharmacogenetic testing is rarely performed in the context of analgesics, response to opiates, non-opioid analgesics, and antidepressants for the treatment of neuropathic pain can be affected by genetic variants. We describe a female patient who suffered from a complex chronic pain syndrome due to a disc hernia. Due to insufficient response to oxycodone, fentanyl, and morphine in addition to non-steroidal anti-inflammatory drug (NSAID)-induced side effects reported in the past, we performed panel-based pharmacogenotyping and compiled a medication recommendation. The ineffectiveness of opiates could be explained by a combined effect of the decreased activity in cytochrome P450 2D6 (CYP2D6), an increased activity in CYP3A, and an impaired drug response at the µ-opioid receptor. Decreased activity for CYP2C9 led to a slowed metabolism of ibuprofen and thus increased the risk for gastrointestinal side effects. Based on these findings we recommended hydromorphone and paracetamol, of which the metabolism was not affected by genetic variants. Our case report illustrates that an in-depth medication review including pharmacogenetic analysis can be helpful for patients with complex pain syndrome. Our approach highlights how genetic information could be applied to analyze a patient’s history of medication ineffectiveness or poor tolerability and help to find better treatment options. Full article
(This article belongs to the Special Issue Pharmacogenomics from Research to Current Practice)
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