Pharmacogenomics最新文献

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Whole exome sequencing identifies rare variants involved in PPIX-metabolizing pathway in anti-TB drug-induced hepatitis. 全外显子组测序鉴定了抗结核药物性肝炎中ppix代谢途径的罕见变异。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-10-01 Epub Date: 2025-12-10 DOI: 10.1080/14622416.2025.2600244
Yu Wu, Lihuan Lu, Fei Wang, Meiling Zhang, Ruina Chen, Jingru Cheng, Xiaomin He, Hongqiu Pan, Honggang Yi, Shaowen Tang
{"title":"Whole exome sequencing identifies rare variants involved in PPIX-metabolizing pathway in anti-TB drug-induced hepatitis.","authors":"Yu Wu, Lihuan Lu, Fei Wang, Meiling Zhang, Ruina Chen, Jingru Cheng, Xiaomin He, Hongqiu Pan, Honggang Yi, Shaowen Tang","doi":"10.1080/14622416.2025.2600244","DOIUrl":"10.1080/14622416.2025.2600244","url":null,"abstract":"<p><strong>Aims: </strong>To screen and validate rare variants in the protoporphyrin IX (PPIX)-metabolizing pathway associated with anti-tuberculosis drug-induced hepatitis (AT-DIH).</p><p><strong>Methods: </strong>A two-stage matched case-control study was conducted. Firstly, a 1:1 matching design (50 cases and 50 controls) was adopted to screen for rare variants using whole exome sequencing (WES). Secondly, a 1:4 matching design (132 cases and 528 controls) was employed to validate these rare variants via TaqMan genotyping. The association between these variants and AT-DIH risk was evaluated using odds ratios (ORs) with 95% confidence intervals (CIs), with the false discovery rate (FDR) applied for multiple comparison correction.</p><p><strong>Results: </strong>The optimal sequence kernel association test (SKAT-O) and set-based tests identified 19 and 1 genes significantly associated with AT-DIH, respectively. The nuclear receptor coactivator 3 (NCOA3) gene was detected by both methods (SKAT-O: <i>p</i> = 0.002; set-based tests: <i>p</i> = 0.038), and seven algorithms identified four NCOA3 rare variants as deleterious. Further validation showed that the CC genotype of rs2230782 increased the risk of AT-DIH (OR = 15.074, 95%CI: 1.442-157.525, FDR <i>p</i> = 0.046), and this association remained significant in the two-stage combined analysis (3 cases and 1 control with CC genotype, OR = 14.832, 95%CI: 1.422-154.695, FDR <i>p</i> = 0.048).</p><p><strong>Conclusions: </strong>NCOA3 rs2230782 is associated with AT-DIH in Chinese anti-tuberculosis patients.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"615-623"},"PeriodicalIF":1.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12834231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145714950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genotype-guided ticagrelor/prasugrel versus clopidogrel therapy in stroke patients with CYP2C19 loss of function alleles: a systematic review and meta-analysis. 基因型引导的替格瑞/普拉格雷与氯吡格雷治疗卒中患者CYP2C19功能缺失等位基因:系统回顾和荟萃分析
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-10-01 Epub Date: 2025-12-26 DOI: 10.1080/14622416.2025.2603565
Mohitosh Biswas, Murshadul Alam Murad, Maliheh Ershadian, Shahnaz Parvin Sweety, Sakib Al Hasan, Chonlaphat Sukasem
{"title":"Genotype-guided ticagrelor/prasugrel versus clopidogrel therapy in stroke patients with <i>CYP2C19</i> loss of function alleles: a systematic review and meta-analysis.","authors":"Mohitosh Biswas, Murshadul Alam Murad, Maliheh Ershadian, Shahnaz Parvin Sweety, Sakib Al Hasan, Chonlaphat Sukasem","doi":"10.1080/14622416.2025.2603565","DOIUrl":"10.1080/14622416.2025.2603565","url":null,"abstract":"<p><strong>Introduction: </strong>Transient ischemic attack (TIA) or ischemic stroke (IS) patients may have recurrent stroke incidents, especially when carrying <i>CYP2C19</i> Loss-of-Function (LoF) alleles and taking clopidogrel. Recent studies suggest using alternative antiplatelets, e.g., prasugrel, ticagrelor, in these patients. However, the aggregated risk of recurrent stroke or composite vascular events in <i>CYP2C19</i> genotype-guided prasugrel/ticagrelor against clopidogrel therapy in such TIA/IS patients remained unexplored.</p><p><strong>Methods: </strong>A database search was performed to retrieve relevant studies. RevMan software was used to calculate the risk ratio (RR), considering <i>p</i> < 0.05 statistically significant.</p><p><strong>Result: </strong>Six studies (14,124 TIA/IS patients) were considered. TIA/IS patients carrying <i>CYP2C19</i> LoF alleles on ticagrelor/prasugrel therapy were associated with a significant reduction in the risk of composite vascular events (RR 0.76, 95% CI 0.66-0.89; <i>p</i> = 0.0004) and recurrent stroke (RR 0.76, 95% CI 0.64-0.90; <i>p</i> = 0.002) compared to the clopidogrel therapy. However, the bleeding events did not differ significantly (RR 0.91, 95% CI 0.65-1.27; <i>p</i> = 0.58) between the treatment groups.</p><p><strong>Conclusion: </strong>TIA/IS patients inheriting <i>CYP2C19</i> LoF alleles taking ticagrelor/prasugrel may significantly optimize the overall clinical benefits compared to those who are taking clopidogrel by reducing composite vascular events and recurrent stroke without elevating the risk of bleeding events.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"649-656"},"PeriodicalIF":1.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12773629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145834198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An interview with Dr James K. Hicks: implementing pharmacogenomics in cancer treatment. 采访James K. Hicks博士:在癌症治疗中实施药物基因组学。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-10-01 Epub Date: 2025-12-16 DOI: 10.1080/14622416.2025.2603569
James K Hicks
{"title":"An interview with Dr James K. Hicks: implementing pharmacogenomics in cancer treatment.","authors":"James K Hicks","doi":"10.1080/14622416.2025.2603569","DOIUrl":"10.1080/14622416.2025.2603569","url":null,"abstract":"","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"587-588"},"PeriodicalIF":1.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12863065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145768827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Selpercatinib for RET-positive advanced pancreatic cancer detected by liquid biopsy: a case-based insight. Selpercatinib用于液体活检检测ret阳性晚期胰腺癌:基于病例的见解。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-10-01 Epub Date: 2025-12-14 DOI: 10.1080/14622416.2025.2602419
Tarek Assi, Tania Moussa, Cendrella Bou-Orm, Cynthia Khalil, Joud Sawan, Axel Le Cesne
{"title":"Selpercatinib for RET-positive advanced pancreatic cancer detected by liquid biopsy: a case-based insight.","authors":"Tarek Assi, Tania Moussa, Cendrella Bou-Orm, Cynthia Khalil, Joud Sawan, Axel Le Cesne","doi":"10.1080/14622416.2025.2602419","DOIUrl":"10.1080/14622416.2025.2602419","url":null,"abstract":"<p><p>Pancreatic ductal adenocarcinoma (PDAC) is an aggressive malignancy with a poor prognosis and limited effective treatments. Standard chemotherapy offers modest survival benefits, and actionable genetic alterations are rare. RET gene fusions occur in less than 1% of PDAC cases but present a potential target for therapy. We describe a case of a 62-year-old woman with metastatic PDAC who progressed on two lines of chemotherapy. A RET fusion (TPR - RET) was identified via liquid biopsy and confirmed on tissue biopsy. Treatment with the selective RET inhibitor selpercatinib led to rapid symptom improvement, normalization of tumor markers, and significant tumor regression. A partial radiographic response of approximately 60% was achieved, with manageable toxicity. This case highlights the importance of comprehensive molecular profiling, including noninvasive methods like liquid biopsy, in identifying rare but actionable mutations. Emerging evidence from clinical trials supports the efficacy of RET inhibitors in RET-altered PDAC. Broader integration of genomic testing in PDAC may uncover new therapeutic opportunities and improve patient outcomes.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"589-592"},"PeriodicalIF":1.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12773617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145757196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Opportunities and challenges for the implementation of pharmacogenomics in supportive care for gastrointestinal cancer patients in Zimbabwe. 津巴布韦胃肠癌患者支持性护理中实施药物基因组学的机遇和挑战。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-10-01 Epub Date: 2025-12-09 DOI: 10.1080/14622416.2025.2600695
Tinashe Adrian Mazhindu, Ntokozo Ndlovu, Margaret Z Borok, Kevin Grimes, Collen Masimirembwa
{"title":"Opportunities and challenges for the implementation of pharmacogenomics in supportive care for gastrointestinal cancer patients in Zimbabwe.","authors":"Tinashe Adrian Mazhindu, Ntokozo Ndlovu, Margaret Z Borok, Kevin Grimes, Collen Masimirembwa","doi":"10.1080/14622416.2025.2600695","DOIUrl":"10.1080/14622416.2025.2600695","url":null,"abstract":"<p><strong>Introduction: </strong>Supportive care in oncology aims to prevent and manage cancer-related side effects. This study reviews supportive medications for gastrointestinal cancer patients, analyzes usage patterns, biomarker frequencies, and feasibility of dose adjustments.</p><p><strong>Methodology: </strong>A 10-year retrospective study was performed at Parirenyatwa group of Hospitals, Radiotherapy & Oncology Center evaluating the supportive care medicines prescribed for all gastrointestinal cancer patients.</p><p><strong>Results: </strong>A total of 607 patients were analyzed, 42% receiving cancer-specific treatment and 58% best supportive care. Patients who receive cancer-specific treatment, 200 participants (78%) received at least one supportive care medicine compared to 250 (71%) in the best supportive care group (OR 1.4; 95% CI 0.96-2; <i>p</i> = 0.08).Seventeen different supportive care medications were prescribed, seven (41%) of these have pharmacogenomic biomarkers testing recommendation. More patients in the cancer-treated group received medicines with actionable pharmacogenomic biomarkers than in the best supportive care group (56% versus 40%; OR 1.9; 95% CI 1.38-2.66; <i>p</i> = 0.0001). PGX guidelines were fully implemented for tramadol, codeine, omeprazole, and ondansetron; partially for ibuprofen and celecoxib; and unimplementable for amitriptyline.</p><p><strong>Conclusion: </strong>There is an opportunity to improve supportive care in gastrointestinal cancer patients through pharmacogenomics though some specific medicines challenges to full implementations are due to limited registered medicines.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"605-613"},"PeriodicalIF":1.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12773547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145708790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Understanding variation in metoprolol response: CYP2D6, drug interactions, and phenoconversion. 了解美托洛尔反应的变化:CYP2D6,药物相互作用和表型转化。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-10-01 Epub Date: 2025-12-15 DOI: 10.1080/14622416.2025.2597182
Bayan Azizi, David E Lanfear, Jasmine A Luzum
{"title":"Understanding variation in metoprolol response: CYP2D6, drug interactions, and phenoconversion.","authors":"Bayan Azizi, David E Lanfear, Jasmine A Luzum","doi":"10.1080/14622416.2025.2597182","DOIUrl":"10.1080/14622416.2025.2597182","url":null,"abstract":"<p><p>Metoprolol, a β1-selective blocker, is widely used for treating cardiovascular and non-cardiovascular conditions. Its pharmacokinetics (PK) and pharmacodynamics (PD) vary significantly between individuals, in part due to CYP2D6 genetic polymorphisms. Co-administration of CYP2D6 inhibitors can lead to phenotype-genotype discordance, known as phenoconversion, resulting in clinically significant changes in metoprolol exposure and response. This review examines studies of the combined impact of CYP2D6 genotype and inhibitor use on metoprolol PK and PD. A literature search of PubMed, Embase, and Scopus identified 17 relevant clinical studies. Strong inhibitors such as paroxetine and fluoxetine increased metoprolol exposure by up to 8-fold and induced phenoconversion in extensive metabolizers. Moderate inhibitors, including mirabegron and amiodarone, increased metoprolol exposure by 2- to 3-fold, particularly in those with high baseline CYP2D6 activity. These inhibitors also reduced heart rate and blood pressure, mimicking the response seen in poor metabolizers. Weak inhibitors caused minimal PK changes without notable PD effects. Severe adverse drug reactions, including bradycardia and hypotension, occurred with strong inhibitors, especially in patients with cardiovascular disease and reduced CYP2D6 function. CYP2D6 phenoconversion is a clinically important but often overlooked contributor to metoprolol response variability. Incorporating phenoconversion into clinical practice can lead to more effective pharmacotherapy with metoprolol.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"635-647"},"PeriodicalIF":1.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12773468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145757208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Glaucoma diagnosis and treatment in the era of precision medicine. 青光眼的诊断和治疗在精准医学时代。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-09-01 Epub Date: 2025-10-28 DOI: 10.1080/14622416.2025.2580267
Sara Labay-Tejado, Mercè Brunet, Elena Milla
{"title":"Glaucoma diagnosis and treatment in the era of precision medicine.","authors":"Sara Labay-Tejado, Mercè Brunet, Elena Milla","doi":"10.1080/14622416.2025.2580267","DOIUrl":"10.1080/14622416.2025.2580267","url":null,"abstract":"<p><p>Glaucoma is a chronic, degenerative eye disease for which personalized diagnostic and therapeutic biomarkers are still lacking. Precision medicine offers a promising strategy to improve glaucoma management, and pharmacogenomics may play a key role in optimizing treatment response, minimizing side effects, and enhancing adherence. Advances in genetics have introduced potential tools such as polygenic risk scores (PRS) for adult-onset glaucoma and CRISPR/Cas9 for early-onset monogenic forms. Although still in its early stages, pharmacogenetic research in glaucoma has identified several genetic variants that may influence drug efficacy and security. Notably, single nucleotide polymorphisms in genes such as <i>PTGFR</i>, <i>ADRB2</i> and <i>CYP2D6</i> have been associated with varied responses to beta-blockers and prostaglandin analogues. Other candidate genes include <i>ABCB1</i>, <i>SLCO2A1</i>, <i>AFAP1</i>, and <i>ADRB1</i>, though findings remain preliminary. Despite the appeal of genetically guided therapy, broader implementation in clinical practice requires larger, multicenter validation studies, functional analysis of variants, and consensus on actionable biomarkers. Until then, early diagnosis, adherence, and timely treatment remain the pillars of glaucoma care. This narrative review provides an updated overview of the current evidence, knowledge gaps, and future directions in the pharmacogenomics of glaucoma.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"543-558"},"PeriodicalIF":1.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12667680/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145378370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
From genomics to clinic: the transformative impact of AI in pharmacogenomics and personalized medicine. 从基因组学到临床:人工智能对药物基因组学和个性化医疗的变革影响。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-09-01 Epub Date: 2025-11-23 DOI: 10.1080/14622416.2025.2591596
Anantha Lakshmi Jakka, Ripsy Merrin Chacko, Mallikarjun Vasam, Shanmugarathinam Alagarsamy, Siva Sai Chandragiri, Sai Deepthi Gavini, Mano Joseph Mathew
{"title":"From genomics to clinic: the transformative impact of AI in pharmacogenomics and personalized medicine.","authors":"Anantha Lakshmi Jakka, Ripsy Merrin Chacko, Mallikarjun Vasam, Shanmugarathinam Alagarsamy, Siva Sai Chandragiri, Sai Deepthi Gavini, Mano Joseph Mathew","doi":"10.1080/14622416.2025.2591596","DOIUrl":"10.1080/14622416.2025.2591596","url":null,"abstract":"<p><p>At the crossroads of genomics and pharmacology, pharmacogenomics is revolutionizing healthcare by tailoring drug therapies to individual genetic profiles thereby reducing the risk of adverse drug reactions and propelling the field of precision medicine forward. This review delves into the role of pharmacogenomics in uncovering genetic variations, including single nucleotide polymorphisms, that affects how drugs are metabolized and effective. Artificial intelligence (AI) has ameliorated the discovery of biomarkers and the drug development process; enabled real-time clinical decision-making, expanding the possibilities of personalized medicine. AI-powered models, especially in machine learning and deep learning have demonstrated potential in forecasting drug responses and enhancing the precision of genetic variant identification, exemplified by tools like DeepVariant and AlphaFold. However, the diversity of data, the clarity of model interpretations, and the ethical issues surrounding data privacy and genetic discrimination remain as major hurdles. Efforts are underway to address these challenges through multi-omics integration, federated learning, and explainable AI, all aimed at improving clinical translation and promoting fair access to personalized treatments. This review enunciates the existing applications, translational pathways, and prospects of AI in pharmacogenomics, its promise in achieving the goal of precision medicine ensuring the proper treatment of right patient at the right moment.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"573-585"},"PeriodicalIF":1.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12667683/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145588287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Implementation of clopidogrel pharmacogenetics: a Brazilian perspective. 氯吡格雷药物遗传学的实施:巴西的观点。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2025-09-01 Epub Date: 2025-11-06 DOI: 10.1080/14622416.2025.2571388
J F Vieira, I H Tassoni, M L Chaves, A P Oliveira-Ferreira, R M Padilha, A Llerena, E Tarazona-Santos, F Rodrigues-Soares
{"title":"Implementation of clopidogrel pharmacogenetics: a Brazilian perspective.","authors":"J F Vieira, I H Tassoni, M L Chaves, A P Oliveira-Ferreira, R M Padilha, A Llerena, E Tarazona-Santos, F Rodrigues-Soares","doi":"10.1080/14622416.2025.2571388","DOIUrl":"10.1080/14622416.2025.2571388","url":null,"abstract":"<p><p>The <i>CYP2C19</i> gene encodes one of the main enzymes responsible for clopidogrel bioactivation, a widely prescribed antiplatelet prodrug. Due to its high polymorphism, clopidogrel response varies considerably, especially in carriers of nonfunctional alleles, such as <i>CYP2C192</i> and <i> * 3</i>. Meta-analyses have associated <i>CYP2C19</i> loss-of-function alleles with worse cardiovascular outcomes, and genotype-guided strategies have demonstrated feasibility and clinical utility, supporting the rationale for locally validated implementation in Brazil. Personalized treatment strategies, based on preemptive genotyping and genotype-guided recommendations, have been proposed to improve clopidogrel efficacy and safety. However, extrapolating international guidelines to genetically diverse and underrepresented populations, such as Brazilians, poses challenges. Therefore, to discuss the clinical application of this testing in Brazil, it is also necessary to explore strategies that promote national pharmacogenomic studies, enhance infrastructure and training, and better align public policies. This study followed a contextual synthesis approach, with evidence identified through PubMed (last updated July 2025), and discusses structural and scientific barriers to implementing precision medicine in a local context of Brazil, proposing strategies for <i>CYP2C19</i>-clopidogrel pharmacogenetics at the <i>Hospital de Clínicas</i> of the <i>Universidade Federal do Triângulo Mineiro</i> (HC-UFTM), Minas Gerais, Brazil, considering both local realities and broader systemic limitations.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"559-572"},"PeriodicalIF":1.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12667672/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145459391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cancer genetics and response to oncolytic virus treatment for ovarian cancer. 卵巢癌的癌症遗传学和对溶瘤病毒治疗的反应
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2025-09-01 Epub Date: 2025-11-20 DOI: 10.1080/14622416.2025.2580271
Erin L Fletcher, Alison O Cudmore, Barbara C Vanderhyden
{"title":"Cancer genetics and response to oncolytic virus treatment for ovarian cancer.","authors":"Erin L Fletcher, Alison O Cudmore, Barbara C Vanderhyden","doi":"10.1080/14622416.2025.2580271","DOIUrl":"10.1080/14622416.2025.2580271","url":null,"abstract":"<p><p>Ovarian cancers (OCs) are often defined as poorly immunogenic tumors that have low response rates to current immunotherapies and frequently develop resistance to chemotherapies. Oncolytic viruses (OVs) are an emerging therapeutic approach that is favored due to its multifactorial mechanism of action; OVs aim to enhance immune cell recovery and infiltration into the tumor, in addition to assisting the immune system to identify and target evasive tumors. While many different OVs have been studied, this review focuses on the four that have been extensively tested in preclinical models and clinical trials with OC patients: vaccinia viruses, vesicular stomatitis virus, herpes simplex 1, and adenoviruses. We will first explore how these viruses have been developed, modified and tested as monotherapies in OCs, with limited success. The various combinatorial approaches involving OVs that are currently being investigated to improve the outcomes for OC patients will then be addressed. Attention will be given to how the genetics of OC cells may influence response to OVs and how that has led to genetic modifications of OVs that improve the cancer specificity and efficacy of these therapies.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"529-542"},"PeriodicalIF":1.6,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12667681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145557636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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