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Psychiatric Level 1A evidence pharmacogenomics in a Brazilian admixed cohort and global populations. 巴西混血队列和全球人群的精神病 1A 级证据药物基因组学。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-01-30 DOI: 10.2217/pgs-2023-0211
Helena Pereira Ribeiro, Beatriz Meza Baraldi, Fernanda Rodrigues-Soares, Aline Cristiane Planello
{"title":"Psychiatric Level 1A evidence pharmacogenomics in a Brazilian admixed cohort and global populations.","authors":"Helena Pereira Ribeiro, Beatriz Meza Baraldi, Fernanda Rodrigues-Soares, Aline Cristiane Planello","doi":"10.2217/pgs-2023-0211","DOIUrl":"10.2217/pgs-2023-0211","url":null,"abstract":"<p><p><b>Purpose:</b> To compare minor allele frequencies (MAFs) of psychiatric drug response variants in a Brazilian admixed cohort with global populations and other Brazilian groups. <b>Methods:</b> PharmGKB MAFs were gathered from publicly available genetic datasets for Brazil and worldwide. <b>Results:</b> Among 146 variants in <i>CYP2D6</i> and <i>CYP2C19</i>, 41 were present in Brazil, mostly rare (MAF <1%). 11 variants showed significant MAF differences with large effect sizes compared with global populations. <i>CYP2C19*3</i> (rs4986893), <i>CYP2C19*17</i> (rs12248560), <i>CYP2D6*17</i> (rs28371706-A) and <i>CYP2D6*29</i> (rs61736512) exhibited higher frequencies in Brazil, with the latter three also differing from other Brazilian groups. <b>Conclusion:</b> This study highlights significant pharmacogenomic diversity in Brazil and globally, underscoring the need for more research in personalized psychiatric drug therapy.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"69-78"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139574585","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
Implementing pharmacogenomic testing in Australian general practice: an exploratory qualitative study. 在澳大利亚全科医生中实施药物基因组测试：一项探索性定性研究。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-08-07 DOI: 10.1080/14622416.2024.2382078
Emma Ewasiuk, Jon Emery, Gabrielle Reid, Sibel Saya
{"title":"Implementing pharmacogenomic testing in Australian general practice: an exploratory qualitative study.","authors":"Emma Ewasiuk, Jon Emery, Gabrielle Reid, Sibel Saya","doi":"10.1080/14622416.2024.2382078","DOIUrl":"10.1080/14622416.2024.2382078","url":null,"abstract":"<p><p><b>Aim:</b> To explore general practitioners' (GPs) views on implementing pharmacogenomic testing in Australian general practice.<b>Methods:</b> Semi-structured interviews were conducted with nine GPs in Australia, recruited from primary care networks. Interviews were analyzed using thematic analysis. Themes were mapped onto the Consolidated Framework for Implementation Research domains.<b>Results:</b> Barriers to implementation included lack of knowledge, education, standardized pharmacogenomic reports and national clinical guidelines and financial inaccessibility. Facilitators included positive exposure to pharmacogenomics, peer influences, interdisciplinary collaboration and proven clinical utility. Current uptake was minimal; however, GPs shared positive perceptions of clinical use.<b>Conclusion:</b> Recommendations for successful implementation include building and disseminating clinical evidence, developing national guidelines and standardized reports, incorporation into formal education and increasing financial accessibility.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"377-389"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418283/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141898012","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 prescribing predictors in CYP2C19 intermediate metabolizers receiving percutaneous coronary intervention. 接受经皮冠状动脉介入治疗的 CYP2C19 中间代谢者的基因型指导处方预测因子。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-06-06 DOI: 10.1080/14622416.2024.2355862
Joshua J Park, Gervacio Y Cabel, Kevin K Cheng, Jefferson Dang, Amer K Ardati, Jin Han, James C Lee
{"title":"Genotype-guided prescribing predictors in CYP2C19 intermediate metabolizers receiving percutaneous coronary intervention.","authors":"Joshua J Park, Gervacio Y Cabel, Kevin K Cheng, Jefferson Dang, Amer K Ardati, Jin Han, James C Lee","doi":"10.1080/14622416.2024.2355862","DOIUrl":"10.1080/14622416.2024.2355862","url":null,"abstract":"<p><p><b>Background:</b> Previous differences in guideline recommendation strength for CYP2C19 intermediate metabolizers may have limited genotype (PGx)-optimal post-percutaneous coronary intervention antiplatelet prescribing.<b>Results:</b> In this single-center retrospective observational cohort study of CYP2C19 intermediate metabolizers, patients prescribed PGx-optimal therapy were younger and less likely on anticoagulation (2 vs 12%; <i>p</i> = 0.006). More patients prescribed PGx-optimal therapy possessed commercial insurance (36 vs 7%; <i>p</i> < 0.001), which was a predictor for PGx-optimal selection (OR: 6.464; 95% CI: 2.386-17.516; <i>p</i> < 0.001).<b>Conclusion:</b> Anticoagulation use was significantly associated with clopidogrel use (OR: 0.138; 95% CI: 0.026<b>-</b>0.730; <i>p</i> = 0.020). No statistical difference in composite major adverse cardiovascular events (5 vs 14%; <i>p</i> = 0.173) or bleeding (8 vs 6%; Not significant) was observed between PGx-optimal and PGx-suboptimal therapy.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"293-298"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11404693/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141331621","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
Effect of gene variants on opioid dose, pain and adverse effect outcomes in advanced cancer: an explorative study. 基因变异对晚期癌症患者阿片类药物剂量、疼痛和不良反应结果的影响：一项探索性研究。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-12-21 DOI: 10.2217/pgs-2023-0207
Aaron K Wong, Pal Klepstad, Andrew A Somogyi, Sara Vogrin, Brian Le, Jennifer Philip, Justin P Rubio
{"title":"Effect of gene variants on opioid dose, pain and adverse effect outcomes in advanced cancer: an explorative study.","authors":"Aaron K Wong, Pal Klepstad, Andrew A Somogyi, Sara Vogrin, Brian Le, Jennifer Philip, Justin P Rubio","doi":"10.2217/pgs-2023-0207","DOIUrl":"https://doi.org/10.2217/pgs-2023-0207","url":null,"abstract":"<p><p><b>Aim:</b> Associations between gene variants and opioid net effect are unclear. We conducted an exploratory pharmacogenetic analysis of 35 gene variants and opioid response in advanced cancer. <b>Patients & methods:</b> This multi-center prospective cohort study included clinical data, questionnaires (pain and adverse effects) and DNA (blood). Negative binomial regression and logistic regression were used. <b>Results:</b> Within 54 participants, eight statistically significant associations (p = 0.002-0.038) were observed between gene variants and opioid dose, pain scores or adverse effects, the majority being within the neuroimmune TLR4 pathway (IL1B [rs1143634], IL2 [rs2069762], IL6 [rs1800795], BDNF [rs6265]) and ARRB2 pathway (ARRB2 [rs3786047], DRD2 [rs6275]). <b>Conclusion:</b> Neuroimmune pathway genes may contribute to differences in opioid response in cancer and may be included in future similar studies.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138830880","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
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 1.9 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":1.9,"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 1.9 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":1.9,"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
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