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In view of the limited data related to preemptive pharmacogenomics (PGx) testing in the primary care setting, we designed a study to assess the feasibility of implementing preemptive PGx services at outpatient clinics, with the aim to assess the practicality and challenges of implementing preemptive PGx testing within primary care, and its impact on clinical workflows and patient care. This prospective study was conducted between October 2022 and August 2023 at five outpatient clinics located in Singapore. Patients aged 21 to 65 with a reported history or risk of developing any of the target chronic conditions or any patients receiving one of the 29 PGx-associated medications were recruited. Patients' buccal samples were processed using a multi-gene qPCR-based panel of 21 allele variants of five pharmacogenes. Surveys were administered to study participants and clinicians to assess their perceptions and outcomes related to PGx testing. Among the 222 patients, 95% had at least one clinically actionable variant. Of these patients, 113 reported taking at least one of the 29 studied drugs, with 21.2% of them receiving at least one clinically actionable recommendation based on their PGx results. A total of 150 patients (67.6%) participated in the post-test follow-up survey. Among them, 70% expressed feeling relieved and happy upon receiving their test reports and reported increased confidence in taking their prescribed medication. Furthermore, clinicians identified the necessity for clearer legal regulations regarding PGx testing and insurance coverage to enhance future adoption of PGx testing. Given a high prevalence of clinically actionable variants in almost all tested patients, this study underscores the feasibility and clinical benefits of preemptive PGx testing in primary care clinics in Singapore.Clinical Trial Registration: This study is registered with ClinicalTrials.gov, identifier NCT05504135, with the registration date of August 17, 2022.
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http://dx.doi.org/10.1038/s41397-025-00366-1 | DOI Listing |
J Med Internet Res
September 2025
Artificial Intelligence Center, China Medical University Hospital, 2, Yude Road, Taichung, 404327, Taiwan, 886 4-22052121.
Background: The effective implementation of personalized pharmacogenomics (PGx) requires the integration of released clinical guidelines into decision support systems to facilitate clinical applications. Large language models (LLMs) can be valuable tools for automating information extraction and updates.
Objective: This study aimed to assess the effectiveness of repeated cross-comparisons and an agreement-threshold strategy in 2 advanced LLMs as supportive tools for updating information.
J Clin Psychopharmacol
September 2025
Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, GA.
Purpose/background: Multiple meta-analyses have suggested that pharmacogenomic (PGx) testing may be a valuable tool to improve clinical outcomes for patients with major depressive disorder (MDD) who have failed at least one treatment. However, these meta-analyses included studies with different PGx tests and different trial designs, which produce uncertainty when interpreting results. To investigate the clinical utility of a single weighted multigene PGx test, a meta-analysis was performed for prospective studies utilizing this PGx test in adult patients with MDD.
View Article and Find Full Text PDFPharmaceuticals (Basel)
August 2025
Division of Clinical Pharmacology and Toxicology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Medication discontinuation attributable to adverse drug reactions (ADRs) and/or inefficacy remains a concern of psychotropic medications among children and adolescents. Pharmacogenetic (PGx) testing has been proposed to individualize treatment, although its utility remains uncertain. We retrospectively evaluated whether PGx testing of two key metabolism genes (i.
View Article and Find Full Text PDFBMJ Open
August 2025
Department of Family Medicine, McMaster University Faculty of Health Sciences, Hamilton, Ontario, Canada.
Objectives: Many patients with major depressive disorder must try multiple antidepressants before they identify a drug that is both effective and tolerable. Pharmacogenomic (PGx) testing may provide clinicians with guidance around medication choice based on a patient's drug response-related genetic variants. However, this technology is not routinely used in clinical care in Canada, and the views of key actors in the implementation process are largely unknown.
View Article and Find Full Text PDFJ Am Pharm Assoc (2003)
August 2025
Sanford Imagenetics, Sanford Health, Sioux Falls, South Dakota, USA; Department of Internal Medicine, University of South Dakota School of Medicine, Vermillion, South Dakota, USA.
Background: CYP2D6 affects metabolism of several opioids; however, the clinical impact of genetic variants on efficacy has limited evidence in large patient populations.
Objective: This study aims to assess the impact of CYP2D6 phenotype on pain response in an elective pharmacogenomic (PGx) screening population prescribed opioids.
Methods: A retrospective review was conducted on hospitalized patients with CYP2D6 genotyping, prescribed either codeine, tramadol, hydrocodone, or oxycodone within 24 months prior to PGx testing and through 36 months after results.