Pharmacogenomics最新文献

Impact of CYP2C19 polymorphism testing on the risk of stent thrombosis in patients with carotid artery stenting.

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-03-31 DOI: 10.1080/14622416.2025.2478810

Huai Wu Yuan, Xia Huang, Min Ying Pan, Xuan Yu Chen, Yun Zhen Hu, Mei Hua Lin, Jian Er Wang, Yong Wu, Jun Hu, Mei Ling Cao, Hui Liang

{"title":"Impact of CYP2C19 polymorphism testing on the risk of stent thrombosis in patients with carotid artery stenting.","authors":"Huai Wu Yuan, Xia Huang, Min Ying Pan, Xuan Yu Chen, Yun Zhen Hu, Mei Hua Lin, Jian Er Wang, Yong Wu, Jun Hu, Mei Ling Cao, Hui Liang","doi":"10.1080/14622416.2025.2478810","DOIUrl":"https://doi.org/10.1080/14622416.2025.2478810","url":null,"abstract":"Objective: We aimed to identify the impact of CYP2C19 polymorphism testing on clinical outcomes in patients who have undergone carotid artery stenting (CAS).Methods: This was a single-center retrospective cohort study. CYP2C19 polymorphisms were identified based on the presence of two normal functional alleles in normal metabolizers (NMs), a normal functional allele and a nonfunctional allele in intermediate metabolizers and two nonfunctional alleles in poor metabolizers. Patients were recommended for the CYP2C19 polymorphism testing followed by the change in dual antithrombotic drugs (DAPT) at the discretion of the supervising physician. The primary clinical endpoint was stent thrombosis (ST). Logistic regression was used to evaluate the relative risk of clinical outcomes.Results: A total of 273 patients were included. The relative risk of ST was not reduced in patients who underwent CYP2C19 polymorphism testing than in patients without this test (3.1% vs. 3.9%, OR = 0.914, 95% CI = 0.218-3.841). The ST in NMs and non-NMs was 3.4% and 2.9%, respectively, and showing no reduction in NMs (OR = 1.145, 95% CI = 0.162-8.105). Changing DAPT did not reduce the relative risk of ST compared with non-changing (2.3% vs. 3.2%, OR = 1.604, 95% CI = 0.024-107.033).Conclusions: CYP2C19 polymorphism was not related to stent thrombosis in patients with CAS.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-7"},"PeriodicalIF":1.9,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pharmacogenomic markers associated with drug-induced QT prolongation: a systematic review.

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-03-21 DOI: 10.1080/14622416.2025.2481025

Marlene Schouby Bentestuen, Christian Noe Weis, Caroline Bækmann Jeppesen, Liv Swea Thiele, Janne Pia Thirstrup, Juan Cordero-Solorzano, Henrik Kjærulf Jensen, Anna Starnawska, Alexander Sebastian Hauser, Christiane Gasse

{"title":"Pharmacogenomic markers associated with drug-induced QT prolongation: a systematic review.","authors":"Marlene Schouby Bentestuen, Christian Noe Weis, Caroline Bækmann Jeppesen, Liv Swea Thiele, Janne Pia Thirstrup, Juan Cordero-Solorzano, Henrik Kjærulf Jensen, Anna Starnawska, Alexander Sebastian Hauser, Christiane Gasse","doi":"10.1080/14622416.2025.2481025","DOIUrl":"https://doi.org/10.1080/14622416.2025.2481025","url":null,"abstract":"Aim: To systematically assess clinical studies involving patients undergoing drug therapy, comparing different genotypes to assess the relationship with changes in QT intervals, with no limitations on study design, setting, population, dosing regimens, or duration.Methods: This systematic review followed PRISMA guidelines and a pre-registered protocol. Clinical human studies on PGx markers of diQTP were identified, assessed using standardized tools, and categorized by design. Gene associations were classified as pharmacokinetic or pharmacodynamic. Identified genes underwent pathway enrichment analyses. Drugs were classified by third-level Anatomical Therapeutic Chemical (ATC) codes. Descriptive statistics were computed by study category and drug classes.Results: Of 4,493 reports, 84 studies were included, identifying 213 unique variants across 42 drug classes, of which 10% were replicated. KCNE1-Asp85Asn was the most consistent variant. Most findings (82%) were derived from candidate gene studies, suggesting bias toward known markers. The diQTP-associated genes were mainly linked to \"cardiac conduction\" and \"muscle contraction\" pathways (false discovery rate = 4.71 × 10-14). We also found an overlap between diQTP-associated genes and congenital long QT syndrome genes.Conclusion: Key genes, drugs, and pathways were identified, but few consistent PGx markers emerged. Extensive, unbiased studies with diverse populations are crucial to advancing the field.Registration: A protocol was pre-registered at PROSPERO under registration number CRD42022296097.Data deposition: Data sets generated by this review are available at figshare: DOI: 10.6084/m9.figshare.27959616.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-20"},"PeriodicalIF":1.9,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Impact of a pharmacogenomics (PGx) clinic on patient satisfaction and PGx literacy.

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-03-21 DOI: 10.1080/14622416.2025.2481015

Amanda Massmann, Jordan Baye, Max Weaver, Natasha Petry, Kristen Jacobsen, April Schultz, Halle Brady, Joel Van Heukelom

{"title":"Impact of a pharmacogenomics (PGx) clinic on patient satisfaction and PGx literacy.","authors":"Amanda Massmann, Jordan Baye, Max Weaver, Natasha Petry, Kristen Jacobsen, April Schultz, Halle Brady, Joel Van Heukelom","doi":"10.1080/14622416.2025.2481015","DOIUrl":"https://doi.org/10.1080/14622416.2025.2481015","url":null,"abstract":"Introduction: Genetic variants can impact medication response. The study of genetic variants on medications is called pharmacogenomics (PGx). Understanding PGx results can be difficult as results are reported differently than other laboratory tests. Patients have reported a lack of understanding and satisfaction with PGx information.Methods: Surveys were emailed to patients seen in the PGx clinic and patients who participated in an elective screening (Sanford Chip) at Sanford Health. Surveys were conducted to assess literacy, understanding and satisfaction of PGx testing. Survey responses were summarized using descriptive statistics.Results: There were 121 responses that were initially collected. A total of 100 responses were included in the analysis. The median response amongst all individuals was 9 out of a possible 13 points on the PGx literacy assessment. PGx clinic patients had increased satisfaction compared to Sanford Chip patients for being able to understand results (p < 0.05), that PGx test provided information to improve my care plan (p < 0.05), that they feel confident that my medication will be effective for me based on my genetics (p < 0.05), were satisfied with communication of results (p < 0.001) and overall experience (p < 0.01).Discussion: Implementation of a PGx clinic improves patient experience, confidence, and satisfaction.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-7"},"PeriodicalIF":1.9,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Reinterpretation of pharmacogenomic phenotypes after combinatorial psychiatric testing.

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-03-20 DOI: 10.1080/14622416.2025.2479409

Michele Cung, John Loftus, Mark A Marzinke, James M Stevenson

{"title":"Reinterpretation of pharmacogenomic phenotypes after combinatorial psychiatric testing.","authors":"Michele Cung, John Loftus, Mark A Marzinke, James M Stevenson","doi":"10.1080/14622416.2025.2479409","DOIUrl":"https://doi.org/10.1080/14622416.2025.2479409","url":null,"abstract":"Aim: Providers can use combinatorial pharmacogenomic panels to aid psychiatric medication prescribing. Results are typically documented in static documents which list the genotype and predicted phenotype (interpretation). However, genotype-to-phenotype translations can differ between laboratories and change as scientific consensuses evolves. Here, we describe the implications of reinterpreting phenotype after combinatorial psychiatric pharmacogenomic testing in a real-world setting.Patients and methods: 143 patients underwent testing from 2014 to 2021. Reported genotypes and phenotypes were compared to 2024 Clinical Pharmacogenetics Implementation Consortium definitions. Chi-square tests and logistic regression were used to examine the differences in phenotype frequencies before and after reinterpretation and examine the association with time since testing.Results: Eighty-one patients (57%) required at least one updated interpretation. CYP2C19 interpretations changed for 44/143 patients (31%), followed by CYP2D6 (29%), CYP2B6 (3%), and CYP2C9 (1%). Reinterpretation reduced the number of CYP2D6 ultrarapid and poor metabolizers (p = 0.005), which has implications for antidepressant prescribing. Likelihood of a patient having a reinterpreted phenotype was not associated with time since reporting (p = 0.71).Conclusions: Reported phenotypes from combinatorial PGx testing often do not align with current standardized definitions, even from tests performed recently. Health systems should establish procedures to standardize and periodically update pharmacogenomic interpretations.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-7"},"PeriodicalIF":1.9,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Patient perspectives of a multidisciplinary Pharmacogenomics clinic.

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-03-20 DOI: 10.1080/14622416.2025.2481016

Lindy Maska, Roseann S Donnelly, Benjamin J Kerman, Allison Cirino, Elizabeth Fieg

{"title":"Patient perspectives of a multidisciplinary Pharmacogenomics clinic.","authors":"Lindy Maska, Roseann S Donnelly, Benjamin J Kerman, Allison Cirino, Elizabeth Fieg","doi":"10.1080/14622416.2025.2481016","DOIUrl":"https://doi.org/10.1080/14622416.2025.2481016","url":null,"abstract":"Aim: To assess patient perspectives following evaluation in a multidisciplinary pharmacogenomics clinic run by a clinical pharmacist, genetic counselor, and physician.Methods: A survey was distributed to 187 adults seen in the Brigham and Women's Hospital Pharmacogenomics Clinic. Participants who completed the survey were invited to complete a semi-structured interview. Interview subjects were selected based on order of responses, scheduling availability, and range of participant experiences with testing and the clinic process. Surveys were analyzed with descriptive statistics, and interview transcripts were analyzed with thematic analysis.Results: Forty-two survey responses were received; 13 participants were interviewed. Quantitative data demonstrated high satisfaction with the multidisciplinary clinic model and belief that pharmacogenomic testing has value. Qualitative analysis identified four themes: 1) Self-Advocacy as a Patient Responsibility in the Utilization of Pharmacogenomic Results, 2) High Satisfaction with Multidisciplinary Pharmacogenomics Clinic Model and Team, 3) Utility of Pharmacogenomics, and 4) Desire for Pharmacogenomics Resources.Conclusion: Patients value the care provided by a multidisciplinary pharmacogenomics clinic team, but they need to advocate for the use of their results with other healthcare professionals.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-13"},"PeriodicalIF":1.9,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Treatment of extended RAS/ BRAF wild-type metastatic colorectal cancer with anti-EGFR antibody combinations.

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-03-17 DOI: 10.1080/14622416.2025.2479414

Ioannis A Voutsadakis

{"title":"Treatment of extended RAS/ BRAF wild-type metastatic colorectal cancer with anti-EGFR antibody combinations.","authors":"Ioannis A Voutsadakis","doi":"10.1080/14622416.2025.2479414","DOIUrl":"https://doi.org/10.1080/14622416.2025.2479414","url":null,"abstract":"Receptor tyrosine kinase pathways are frequently deregulated in cancer. Inhibiting these pathways with small molecule inhibitors or monoclonal antibodies has become a crucial addition to the therapeutic armamentarium in oncology. Since the introduction of drugs that target receptor tyrosine kinase pathways, it has become evident that not all patients respond to treatment. Therefore, biomarkers to predict response and benefit of drugs targeting tyrosine kinases have been sought. Monoclonal antibodies targeting the Epidermal Growth Factor Receptor (EGFR), one of the four receptors of the EGFR family were among the first targeted therapies used in solid tumors. Two drugs of this class, cetuximab and panitumumab, have been used in patients with metastatic colorectal cancer initially without any biomarker requirement. Soon, it became clear that responses were mostly observed in patients without mutations in KRAS oncogene. Currently, additional mutations of the pathway, including non-exon 2 mutations in KRAS, mutations in the homologous GTPase NRAS, in kinase BRAF and PIK3CA and other pathway proteins, have been added in the evaluation for responsiveness prediction to cetuximab and panitumumab. In this review, the predictive biomarker landscape for anti-EGFR monoclonal antibody inhibitors in metastatic colorectal cancers with no extended RAS and BRAF mutations will be examined.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-14"},"PeriodicalIF":1.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Impact of CYP2D6 and ADRB1 polymorphisms on heart rate of post-PCI patients treated with metoprolol. CYP2D6和ADRB1多态性对接受美托洛尔治疗的PCI术后患者心率的影响

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-05-31 DOI: 10.2217/pgs-2017-0203

Xiaofeng Gao, Huan Wang, Hui Chen

{"title":"Impact of CYP2D6 and ADRB1 polymorphisms on heart rate of post-PCI patients treated with metoprolol.","authors":"Xiaofeng Gao, Huan Wang, Hui Chen","doi":"10.2217/pgs-2017-0203","DOIUrl":"10.2217/pgs-2017-0203","url":null,"abstract":"Aim: To explore the effect of CYP2D6*10 (100C > T) and ADRB1 1165 G > C polymorphisms on heart rate of post-PCI (percutaneous coronary intervention) patients treated with metoprolol succinate sustained-release tablets. Methods: A total of 756 inpatients with metoprolol succinate sustained-release tablets were selected and the genotypes of CYP2D6*10 and ADRB1 1165G > C were detected in 319 patients using gene chip detection. The target heart rate was defined as a resting heart rate < 70 beats/min. Clinical data were collected. Results: A total of 319 inpatients were enrolled in the study. The mutant allele frequencies of CYP2D6 and ADRB1 were 57.21 and 69.44%, respectively. Whatever the dose of metoprolol, the heart rates were lower in patients with homozygous mutation of CYP2D6 than those with heterozygous mutation and wild-type (p < 0.05). Nevertheless, this effect was not seen between different genotypes of ADRB1. Logistic regression analysis showed that the dose of metoprolol and the genotypes of CYP2D6 were predictors of heart rate <70 beats/min in these patients. Further multivariate analysis indicated that patients with homozygous mutation had better control of heart rates compared with those with wild-type and heterozygous mutation of CYP2D6*10 genotypes (all: p < 0.001). Conclusion:CYP2D6*10 polymorphisms were associated with the heart rate of post-PCI patients treated with metoprolol succinate sustained-release tablets.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-9"},"PeriodicalIF":2.1,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35515184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pharmacogenomic implications of the differential distribution of CYP3A5 metabolic phenotypes among Latin American populations. 拉丁美洲人群中 CYP3A5 代谢表型不同分布的药物基因组学意义。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-03-01 Epub Date: 2024-03-20 DOI: 10.2217/pgs-2024-0009

Guilherme Suarez-Kurtz, Claudio José Struchiner

引用次数: 0

Knowledge and perceptions of pharmacogenomics among pharmacists in Manitoba, Canada. 加拿大马尼托巴省药剂师对药物基因组学的了解和看法。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-03-01 Epub Date: 2024-03-20 DOI: 10.2217/pgs-2024-0013

Abdullah Al Maruf, Meagan Shields, Amber Fryza, Amanda Wondrasek, Christine Leong, Kaarina Kowalec, Chad Bousman

引用次数: 0

Implementation of whole-exome sequencing for pharmacogenomics profiling and exploring its potential clinical utilities. 采用全外显子组测序进行药物基因组学分析，探索其潜在的临床用途。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-03-01 Epub Date: 2024-03-21 DOI: 10.2217/pgs-2023-0243

Danyi Wang, Jayaprakasam Bolleddula, Anna Coenen-Stass, Thomas Grombacher, Jennifer Q Dong, Juergen Scheuenpflug, Giuseppe Locatelli, Zheng Feng

引用次数: 0