PharmacogenomicsPub Date : 2023-11-01Epub Date: 2023-11-09DOI: 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}
PharmacogenomicsPub Date : 2023-11-01Epub Date: 2023-11-27DOI: 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}
PharmacogenomicsPub Date : 2023-11-01Epub Date: 2023-11-06DOI: 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}
PharmacogenomicsPub Date : 2023-10-01Epub Date: 2023-10-17DOI: 10.2217/pgs-2023-0124
Mohitosh Biswas, Chonlaphat Sukasem
{"title":"Pharmacogenomics of chloroquine and hydroxychloroquine: current evidence and future implications.","authors":"Mohitosh Biswas, 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}
PharmacogenomicsPub Date : 2023-10-01Epub Date: 2023-10-25DOI: 10.2217/pgs-2023-0149
Priyanga Ranasinghe, Nirmala Sirisena, Jeremy N Ariadurai, Thuwaragesh Vishnukanthan, Sathsarani Thilakarathne, Gayani Anandagoda, Vajira Hw Dissanayake
{"title":"Pharmacogenomic variants affecting efficacy and toxicity of statins in a south Asian population from Sri Lanka.","authors":"Priyanga Ranasinghe, Nirmala Sirisena, Jeremy N Ariadurai, Thuwaragesh Vishnukanthan, Sathsarani Thilakarathne, Gayani Anandagoda, Vajira Hw Dissanayake","doi":"10.2217/pgs-2023-0149","DOIUrl":"10.2217/pgs-2023-0149","url":null,"abstract":"<p><p><b>Aim:</b> To describe the diversity of pharmacogenetic variants of statins among Sri Lankans. <b>Materials & methods:</b> Variant data of relevant genes were obtained from an anonymized database of 426 Sri Lankans. Minor allele frequencies (MAFs) were compared with published data from other populations. <b>Results:</b> The MAF of <i>SLCO1B1*5</i> (rs4149056 [T>C]) was 18.19% (95% CI: 14.53-21.85). MAFs of <i>CYP2C9*2</i> (rs1799853 [C>T]) and <i>CYP2C9*3</i> (rs1057910 [A>C]) were 2.58% (95% CI: 1.08-4.08) and 10.30% (95% CI: 7.75-13.61), respectively. MAFs of rs2231142 (G>T) (<i>ABCG2</i>), rs7412 (C>T) (<i>APOE</i>) and rs20455 (A>G) (<i>KIF6</i>) variants were 10.68% (95% CI: 7.76-13.60), 3.52% (95% CI: 1.77-5.27) and 50.7% (95% CI: 45.96-55.45), respectively. Compared with western/other Asian populations, rs20455 (A>G), <i>CYP2C9*3</i> (A>C) and <i>SLCO1B1*5</i> (T>C) variants were significantly higher in Sri Lankans. <b>Conclusion:</b> Variants that affect efficacy of statins (<i>KIF6</i> [rs20455], <i>CYP2C9*3</i>) and increase risk of statin-induced myotoxicity (<i>SLCO1B1*5</i> and <i>CYP2C9*3</i>) were prevalent in higher frequencies among Sri Lankans compared with western populations.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"809-819"},"PeriodicalIF":2.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50158543","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}
PharmacogenomicsPub Date : 2023-10-01Epub Date: 2023-10-23DOI: 10.2217/pgs-2023-0140
Julia Concha, Estela Sangüesa, Jose Luis Peña, María Pilar Ribate, Cristina Belén García
{"title":"Retrospective pharmacogenetic study in a cohort of pediatric tuberous sclerosis complex patients using everolimus.","authors":"Julia Concha, Estela Sangüesa, Jose Luis Peña, María Pilar Ribate, Cristina Belén García","doi":"10.2217/pgs-2023-0140","DOIUrl":"10.2217/pgs-2023-0140","url":null,"abstract":"<p><p><b>Aim:</b> Tuberous sclerosis complex (TSC) is a rare disease that produces multisystemic disorders. Everolimus (EVR) is the only immunosuppressive drug approved to control the symptoms and progression of the disease. The aim was to evaluate the genotype-phenotype association to improve the pediatric TSC pharmacotherapeutic outcome. <b>Patients & methods:</b> Ten pediatric TSC patients were recruited. Concomitant treatment and main metabolic enzymes and transporter coding gene variants of EVR were analyzed. <b>Results:</b> Significant associations were found between <i>CYP3A4*22</i> allele and concomitant treatment with valproic acid (CYP3A4-inhibitor) with a poor metabolizer phenotype and the presence of pneumonia. <b>Conclusion:</b> This is the first pharmacogenetic study of EVR in pediatric TSC patients. The authors propose to consider concomitant treatment and pharmacogenetics due to their multifactorial status.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"797-808"},"PeriodicalIF":2.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49691944","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}
PharmacogenomicsPub Date : 2023-10-01Epub Date: 2023-10-17DOI: 10.2217/pgs-2023-0093
Alexis Koon, Jiaxian He, Jai Patel, Allison Morse, Victoria Boseman, Alicia Hamilton, Thomas Knight, Nilay Shah, Brittany Ragon, Aleksander Chojecki, Jing Ai, Nury Steuerwald, Jonathan Gerber, Edward Copelan, Michael Grunwald, Justin Arnall
{"title":"Evaluation of pentamidine tolerability and efficacy between <i>CYP2C19</i> phenotypes.","authors":"Alexis Koon, Jiaxian He, Jai Patel, Allison Morse, Victoria Boseman, Alicia Hamilton, Thomas Knight, Nilay Shah, Brittany Ragon, Aleksander Chojecki, Jing Ai, Nury Steuerwald, Jonathan Gerber, Edward Copelan, Michael Grunwald, Justin Arnall","doi":"10.2217/pgs-2023-0093","DOIUrl":"10.2217/pgs-2023-0093","url":null,"abstract":"<p><p>Intravenous pentamidine is used for prophylaxis against <i>Pneumocystis jirovecii</i> pneumonia, an infection seen in hematopoietic stem cell transplant recipients. Pentamidine is partially metabolized by <i>CYP2C19</i>, which is vulnerable to pharmacogenetic variation. This retrospective study evaluated allogeneic hematopoietic stem cell transplant patients who received intravenous pentamidine as <i>P. jirovecii</i> pneumonia prophylaxis. The primary objective was the association between <i>CYP2C19</i> phenotype and discontinuation of pentamidine due to drug-related side effects based on univariate logistic regression (N = 81). Ten patients (12.3%) discontinued pentamidine because of side effects. There was no difference in discontinuation between phenotype groups (p = 0.18) or discontinuation due to side effects (p = 0.76). Overall, no association was seen between phenotypes and pentamidine-related side effects (p = 0.475). Drug discontinuation rates and <i>P. jirovecii</i> pneumonia infection rates were low.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"821-830"},"PeriodicalIF":2.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41237623","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}
PharmacogenomicsPub Date : 2023-10-01Epub Date: 2023-10-17DOI: 10.2217/pgs-2023-0160
Nadine de Godoy Torso, Paulo Caleb Jl Santos, Patricia Moriel
{"title":"Challenges for the application of pharmacogenomics associated with the nomenclature of allelic variants.","authors":"Nadine de Godoy Torso, Paulo Caleb Jl Santos, Patricia Moriel","doi":"10.2217/pgs-2023-0160","DOIUrl":"10.2217/pgs-2023-0160","url":null,"abstract":"","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"793-796"},"PeriodicalIF":2.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41237621","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}
PharmacogenomicsPub Date : 2023-09-01Epub Date: 2023-10-17DOI: 10.2217/pgs-2023-0075
Guido Boabaid May, Bruna Raquel de Souza, Bárbara Yasmin Gueuvoghlanian-Silva, Esther Camilo Dos Reis, Sofia Rech Mostardeiro, Paula Pedrassani Boabaid May, Elvis Cueva Mateo, Giovanna Grunewald Vietta, Giovana Weber Hoss
{"title":"Distribution of pharmacogene allele and phenotype frequencies in Brazilian psychiatric patients.","authors":"Guido Boabaid May, Bruna Raquel de Souza, Bárbara Yasmin Gueuvoghlanian-Silva, Esther Camilo Dos Reis, Sofia Rech Mostardeiro, Paula Pedrassani Boabaid May, Elvis Cueva Mateo, Giovanna Grunewald Vietta, Giovana Weber Hoss","doi":"10.2217/pgs-2023-0075","DOIUrl":"10.2217/pgs-2023-0075","url":null,"abstract":"<p><p><b>Purpose:</b> This work was designed to identify the pharmacogenetic profile of Brazilian psychiatric patients receiving psychoactive drug treatment according to ethnicity. <b>Methods:</b> Based on the GnTech<sup>®</sup> database, this cross-sectional study analyzed data from self-reported sociodemographic and genetic results from the next-generation sequencing panel composed of 26 pharmacogenes from 359 psychotropic drug users. <b>Results:</b> Variant frequencies of multiple pharmacogenes presented differences between ethnicities (<i>CYP3A5</i>, <i>CYP2D6</i>, <i>CYP1A2</i>, <i>CYP2B6</i>, <i>CYP3A4</i>, <i>UGT1A4</i>, <i>UGT2B15</i>, <i>ABCB1 rs1045642</i>, <i>ADRA2A rs1800544</i>, <i>COMT rs4680</i>, <i>GRIK4 rs1954787</i>, <i>GSK3B rs334558</i>, <i>GSK3B rs6438552</i>, <i>HTR1A rs6295</i>, <i>HTR2A rs7997012</i>, <i>HTR2C rs1414334</i>, <i>MTHFR rs1801131</i>, <i>OPRM1 rs1799971</i> and <i>5-HTTLPR</i>), endorsing the necessity of individual-level analyses in drug treatment. <b>Conclusion:</b> A discussion of pharmacogenomic test implementation in psychiatric clinical practice is needed to improve treatment choices, especially in Brazil, a multiethnic country.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"747-760"},"PeriodicalIF":2.1,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41237622","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}
PharmacogenomicsPub Date : 2023-09-01Epub Date: 2023-09-28DOI: 10.2217/pgs-2023-0136
V Kalidasan, Iswarya Kunalan, Reena Rajasuriar, Vijay Kumar Subbiah, Kumitaa Theva Das
{"title":"<i>HLA-B*57:01</i> typing in a Malaysian cohort: implications of abacavir hypersensitivity in people living with HIV.","authors":"V Kalidasan, Iswarya Kunalan, Reena Rajasuriar, Vijay Kumar Subbiah, Kumitaa Theva Das","doi":"10.2217/pgs-2023-0136","DOIUrl":"10.2217/pgs-2023-0136","url":null,"abstract":"<p><p><b>Background:</b> Abacavir (ABC) in combination with other antiretroviral drugs, is used to treat people living with HIV (PLWH). However, it is linked to a fatal hypersensitivity reaction in susceptible individuals, and is strongly associated with the <i>HLA-B*57:01</i> allele. <b>Materials & methods:</b> A total of 152 patients, 50 PLWH and 102 HIV-1 negative patients, were assessed for the <i>HLA-B*57:01</i> allele through a sequence-specific primer PCR. <b>Results:</b> All PLWH tested negative for the <i>HLA-B*57:01</i> allele, but two HIV-negative patients were found to have <i>HLA-B*57</i>, with one of them expressing the <i>HLA-B*57:01</i> allele. <b>Conclusion:</b> Given the low prevalence of this risk allele in the population, testing for the presence of <i>HLA-B*57:01</i> in PLWH may not provide significant benefit for the reported population.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"761-769"},"PeriodicalIF":2.1,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41163341","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}