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Pharmacogenomics最新文献

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Therapeutic drug monitoring and pharmacogenetics to tune imatinib exposure in gastrointestinal stromal tumor patients: hurdles and perspectives for clinical implementation. 调节胃肠道间质瘤患者伊马替尼暴露的治疗药物监测和药物遗传学:临床实施的障碍和前景。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-12-01 Epub Date: 2023-11-13 DOI: 10.2217/pgs-2023-0198
Sara Gagno, Chiara Dalle Fratte, Bianca Posocco, Angela Buonadonna, Arianna Fumagalli, Michela Guardascione, Giuseppe Toffoli, Erika Cecchin
{"title":"Therapeutic drug monitoring and pharmacogenetics to tune imatinib exposure in gastrointestinal stromal tumor patients: hurdles and perspectives for clinical implementation.","authors":"Sara Gagno, Chiara Dalle Fratte, Bianca Posocco, Angela Buonadonna, Arianna Fumagalli, Michela Guardascione, Giuseppe Toffoli, Erika Cecchin","doi":"10.2217/pgs-2023-0198","DOIUrl":"10.2217/pgs-2023-0198","url":null,"abstract":"<p><p>Tweetable abstract Present evidence supports the use of intensified pharmacologic monitoring of #imatinib including #TherapeuticDrugMonitoring and #PGx to improve outcomes in patients with GI stromal tumor. Future studies need to address emerging questions to facilitate implementation in clinics.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"895-900"},"PeriodicalIF":2.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89719218","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
SLCO1B1 variants and the risk of antituberculosis drug-induced hepatotoxicity: a systematic review and meta-analysis. SLCO1B1变异与抗结核药物引起的肝毒性风险:一项系统综述和荟萃分析
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-12-01 Epub Date: 2023-11-29 DOI: 10.2217/pgs-2023-0168
Min Zhu, Xinyu Chen, Zhuolu Hao, Yiwen He, Bing Han, Shaowen Tang
{"title":"<i>SLCO1B1</i> variants and the risk of antituberculosis drug-induced hepatotoxicity: a systematic review and meta-analysis.","authors":"Min Zhu, Xinyu Chen, Zhuolu Hao, Yiwen He, Bing Han, Shaowen Tang","doi":"10.2217/pgs-2023-0168","DOIUrl":"10.2217/pgs-2023-0168","url":null,"abstract":"<p><p><b>Aims:</b> To evaluate the association between <i>SLCO1B1</i> gene polymorphisms and susceptibility of antituberculosis drug-induced hepatotoxicity (ATDH). <b>Methods:</b> We searched the PubMed, Cochrane Library, Embase, Web of Science, Wan Fang and China National Knowledge Infrastructure database from inception to 2022. <b>Results:</b> Nine case-control studies with 1129 cases and 2203 controls were included. Among four SNPs reported in two or more studies, the final results indicated that SNP rs4149014 was significantly associated with decreased ATDH risk (dominant model, odds ratio: 0.73; 95% CI: 0.55-0.97; p = 0.03; allele model, odds ratio: 0.69; 95% CI: 0.55-0.86; p = 0.001), and the trial sequential analysis also confirmed this significant association. <b>Conclusion:</b> <i>SLCO1B1</i> gene SNP rs4149014 was significantly associated with lower risk of ATDH susceptibility.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"931-942"},"PeriodicalIF":2.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138452123","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
Pre-emptive pharmacogenomics implementation among polypharmacy patients 65 years old and older: a clinical pilot. 在65岁及以上的多药患者中实施先发制人的药物基因组学:临床试点。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-12-01 Epub Date: 2023-11-15 DOI: 10.2217/pgs-2023-0185
Ryley Uber, Vanessa A Hayduk, Apoorva Pradhan, Theron Ward, Alison Flango, Jove Graham, Eric A Wright
{"title":"Pre-emptive pharmacogenomics implementation among polypharmacy patients 65 years old and older: a clinical pilot.","authors":"Ryley Uber, Vanessa A Hayduk, Apoorva Pradhan, Theron Ward, Alison Flango, Jove Graham, Eric A Wright","doi":"10.2217/pgs-2023-0185","DOIUrl":"10.2217/pgs-2023-0185","url":null,"abstract":"<p><p><b>Aim:</b> Pre-emptive testing of pharmacogenomic (PGx) variations has potential to improve medication safety and effectiveness; however, testing is not routine. Given the newfound payor coverage of multigene testing and the potential value of testing within aging patients, it is imperative to test local PGx testing capabilities, report results to patients and providers, and determine the value of testing. <b>Materials & methods:</b> We designed a randomized clinical pilot of a pre-emptive PGx testing process using the electronic health record compared with usual care among an aging primary care population. <b>Results & conclusion:</b> The impact of the program on prescribing patterns, healthcare utilization and costs of care will be evaluated. We hypothesize that implementation of a pre-emptive multigene PGx panel is feasible among elderly, polypharmacy, primary care patients, measured by the number of enrolled patients with PGx results entered in the medical record. Health system wide PGx implementation, including capacity needed to integrate these valuable results, is also described.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"915-920"},"PeriodicalIF":2.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"107591992","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 knowledge and awareness among diverse patients treated with angiotensin converting enzyme inhibitors. 接受血管紧张素转换酶抑制剂治疗的不同患者对药物基因组学的了解和认识。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2023-12-01 Epub Date: 2023-12-06 DOI: 10.2217/pgs-2023-0191
Hetanshi Naik, Michelle Y O'Connor, Saskia C Sanderson, Nancy Pinnell, Mingshu Dong, Amy Wiegand, Aniwaa Owusu Obeng, Noura S Abul-Husn, Stuart A Scott
{"title":"Pharmacogenomic knowledge and awareness among diverse patients treated with angiotensin converting enzyme inhibitors.","authors":"Hetanshi Naik, Michelle Y O'Connor, Saskia C Sanderson, Nancy Pinnell, Mingshu Dong, Amy Wiegand, Aniwaa Owusu Obeng, Noura S Abul-Husn, Stuart A Scott","doi":"10.2217/pgs-2023-0191","DOIUrl":"10.2217/pgs-2023-0191","url":null,"abstract":"<p><p>We developed novel electronic phenotyping algorithms for the Bio<i>Me</i> biobank data, which accurately identified angiotensin converting enzyme inhibitor (ACEi)-induced angioedema cases and controls. A survey was mailed to all 1075 patients and 91 were returned. Over a third reported that prescribing physicians had not discussed with them the concepts of interindividual drug response variability or adverse event risk, and 73% of patients were previously unaware of pharmacogenomics; however, most patients were interested in having pharmacogenomic testing. Moreover, 67% of patients indicated that pharmacogenomic testing would positively influence their medication compliance. In addition to identifying an innovative approach to define biobank cohorts for pharmacogenomic studies, these results indicate that patients are interested in pharmacogenomic testing, which could translate to improved adherence.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"921-930"},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10794943/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138488242","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
Pharmacogenomics implementation across multiple clinic settings: a qualitative evaluation. 药物基因组学实施跨多个诊所设置:定性评价。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-11-01 Epub Date: 2023-11-17 DOI: 10.2217/pgs-2023-0179
Sarah A Shue, Elizabeth Rowe, Lauren A Bell, Teresa Damush, Alexis DeLong, Tayler Gowan, Todd Skaar, David Haggstrom
{"title":"Pharmacogenomics implementation across multiple clinic settings: a qualitative evaluation.","authors":"Sarah A Shue, Elizabeth Rowe, Lauren A Bell, Teresa Damush, Alexis DeLong, Tayler Gowan, Todd Skaar, David Haggstrom","doi":"10.2217/pgs-2023-0179","DOIUrl":"10.2217/pgs-2023-0179","url":null,"abstract":"<p><p><b>Aim:</b> To advance clinical adoption and implementation of pharmacogenomics (PGx) testing, barriers and facilitators to these efforts must be understood. This study identified and examined barriers and facilitators to active implementation of a PGx program across multiple clinic settings in an academic healthcare system. <b>Materials & methods:</b> 28 contributors to the PGx implementation (e.g., clinical providers, informatics specialists) completed an interview to elicit their perceptions of the implementation. <b>Results:</b> Qualitative analysis identified several barriers and facilitators that spanned different stages of the implementation process. Specifically, unclear test payment mechanisms, decision support tool development, rigid workflows and provider education were noted as barriers to the PGx implementation. A multidisciplinary implementation team and leadership support emerged as key facilitators. Furthermore, participants also suggested strategies to overcome or maintain these factors. <b>Conclusion:</b> Assessing real-world implementation perceptions and suggested strategies from a range of implementation contributors facilitates a more comprehensive framework and best-practice guidelines for PGx implementation.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"881-893"},"PeriodicalIF":2.1,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136398673","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
Towards more accurate pharmacogenomic variant effect predictions. 更准确的药物基因组变异效应预测。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-11-01 Epub Date: 2023-10-17 DOI: 10.2217/pgs-2023-0187
Yoomi Park, Volker Lauschke
{"title":"Towards more accurate pharmacogenomic variant effect predictions.","authors":"Yoomi Park, Volker Lauschke","doi":"10.2217/pgs-2023-0187","DOIUrl":"10.2217/pgs-2023-0187","url":null,"abstract":"<p><p>Tweetable abstract Accurate variant interpretation has become a key bottleneck for the translation of an individual's pharmacogenome into actionable recommendations. We recommend an integrated use of multiplexed assays, structure-based predictions and biobank data to develop more accurate effect predictors.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"841-844"},"PeriodicalIF":2.1,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41237625","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 testing in oncology: a health system's approach to identify oncology provider perspectives. 肿瘤学中的药物基因组测试：卫生系统确定肿瘤学提供者观点的方法。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-11-01 Epub Date: 2023-11-09 DOI: 10.2217/pgs-2023-0164
Meghna Bhatt, Beth N Peshkin, Sadaf Kazi, Marc D Schwartz, Nadia Ashai, Sandra M Swain, D Max Smith
{"title":"Pharmacogenomic testing in oncology: a health system's approach to identify oncology provider perspectives.","authors":"Meghna Bhatt, Beth N Peshkin, Sadaf Kazi, Marc D Schwartz, Nadia Ashai, Sandra M Swain, D Max Smith","doi":"10.2217/pgs-2023-0164","DOIUrl":"10.2217/pgs-2023-0164","url":null,"abstract":"<p><p><b>Aim:</b> Identify oncology healthcare providers' attitudes toward barriers to and use cases for pharmacogenomic (PGx) testing and implications for prescribing anticancer and supportive care medications. <b>Materials & methods:</b> A questionnaire was designed and disseminated to 71 practicing oncology providers across the MedStar Health System. <b>Results:</b> 25 of 70 (36%) eligible oncology providers were included. 88% were aware of PGx testing and 72% believed PGx can improve care. Of providers who had ordered a medication with PGx implications in the past month, interest in PGx for anticancer (90-100%) and supportive care medications (>75%) was high. Providers with previous PGx education were more likely to have ordered a test (odds ratio: 7.9; 95% CI: 1.1-56; p = 0.0394). <b>Conclusion:</b> Oncology provider prescribing practices and interest in PGx suggest opportunities for implementation.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"859-870"},"PeriodicalIF":2.1,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71522353","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
Clinical pharmacology and pharmacogenomics for implementation of personalized medicine. 实现个体化医疗的临床药理学和药物基因组学。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-11-01 Epub Date: 2023-11-27 DOI: 10.2217/pgs-2023-0188
Ashwin Kamath, Preethi J Shenoy, Sheetal D Ullal, Ashok K Shenoy, Sahana D Acharya, Rajeshwari Shastry, Rashmi R Rao, Priyanka Kamath, Poovizhi R Bharathi, Chakradhara Rao S Uppugunduri
{"title":"Clinical pharmacology and pharmacogenomics for implementation of personalized medicine.","authors":"Ashwin Kamath, Preethi J Shenoy, Sheetal D Ullal, Ashok K Shenoy, Sahana D Acharya, Rajeshwari Shastry, Rashmi R Rao, Priyanka Kamath, Poovizhi R Bharathi, Chakradhara Rao S Uppugunduri","doi":"10.2217/pgs-2023-0188","DOIUrl":"10.2217/pgs-2023-0188","url":null,"abstract":"<p><p>With the aim of integrating clinical pharmacology with pharmacogenomics and providing a platform to gather clinicians, academicians, diagnostic laboratory personnel and scientists from related domains, the International Conference on Clinical Pharmacology and Pharmacogenomics 2023 (ICCPP 2023) was jointly organized by the Department of Pharmacology, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, India and the CANSEARCH research platform in Pediatric Oncology and Hematology, University of Geneva, Geneva, Switzerland. The conference was held on 31 August and 1 September 2023, as a continued Indo-Swiss scientific exchange event series. In this report we describe the proceedings of this conference for the benefit of peers who could not attend the conference but are interested in knowing about the scientific program in detail.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"873-879"},"PeriodicalIF":2.1,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138441109","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
Characterization of CYP2C19 pharmacogenetic variation in African populations and comparison with other global populations. CYP2C19在非洲人群中的药物遗传变异特征及其与其他全球人群的比较。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2023-11-01 Epub Date: 2023-11-06 DOI: 10.2217/pgs-2023-0166
Ross P Booyse, David Twesigomwe, Scott Hazelhurst
{"title":"Characterization of <i>CYP2C19</i> pharmacogenetic variation in African populations and comparison with other global populations.","authors":"Ross P Booyse, David Twesigomwe, Scott Hazelhurst","doi":"10.2217/pgs-2023-0166","DOIUrl":"10.2217/pgs-2023-0166","url":null,"abstract":"<p><p><b>Background:</b> <i>CYP2C19</i> is important in the metabolism of clopidogrel and several antidepressants. This study aimed to characterize the distribution of <i>CYP2C19</i> star alleles (haplotypes) across diverse African populations compared with global populations. <b>Methods:</b> <i>CYP2C19</i> star alleles and diplotypes were called from high coverage genomes using the StellarPGx pipeline. <b>Results:</b> <i>CYP2C19*1</i> (51%), <i>*2</i> (17%) and <i>*17</i> (22%) were the most common star alleles across African populations in this study. It was observed that 3% of African participants had potentially novel <i>CYP2C19</i> haplotypes. <b>Conclusion:</b> This study supports the necessity for <i>CYP2C19</i> pharmacogenetic testing in African and global clinical settings, as well as the importance of comprehensive star allele characterization in the African context.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"845-857"},"PeriodicalIF":1.9,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694788/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71484927","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
Pharmacogenomics of chloroquine and hydroxychloroquine: current evidence and future implications. 氯喹和羟氯喹的药物基因组学：当前证据和未来意义。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-10-01 Epub Date: 2023-10-17 DOI: 10.2217/pgs-2023-0124
Mohitosh Biswas, Chonlaphat Sukasem
{"title":"Pharmacogenomics of chloroquine and hydroxychloroquine: current evidence and future implications.","authors":"Mohitosh Biswas,&nbsp;Chonlaphat Sukasem","doi":"10.2217/pgs-2023-0124","DOIUrl":"10.2217/pgs-2023-0124","url":null,"abstract":"<p><p>As substrates of CYP2C8, CYP3A4/5 and CYP2D6, chloroquine's (CQ) and hydroxychloroquine's (HCQ) efficacy and safety may be affected by variants in the genes encoding these enzymes. This paper aims to assimilate the current evidence on the pharmacogenomics of CQ/HCQ and to identify risk phenotypes affecting the safety or efficacy of these drugs. It has been found that some <i>CYP3A5</i>, <i>CYP2D6</i> and <i>CYP2C8</i> genetic variants may affect the safety or effectiveness of CQ/HCQ. The phenotypes predictively representing ultra-rapid and poor metabolizers have been considered high-risk phenotypes. After considering these high-risk phenotypes in different ethnic groups, it is predicted that a considerable proportion of patients taking CQ/HCQ may be at risk of either therapeutic failure or severe toxicities.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"831-840"},"PeriodicalIF":2.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41237624","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
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