Pharmacogenomics最新文献

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Pharmacogenetics in HIV therapy: a review of key biomarkers, regulatory annotations, and clinical dosing guidelines. HIV治疗中的药物遗传学:关键生物标志物、调控注释和临床给药指南的综述。
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2026-10-16 DOI: 10.1080/14622416.2026.2746614
Rita Nogueiras-Álvarez
{"title":"Pharmacogenetics in HIV therapy: a review of key biomarkers, regulatory annotations, and clinical dosing guidelines.","authors":"Rita Nogueiras-Álvarez","doi":"10.1080/14622416.2026.2746614","DOIUrl":"https://doi.org/10.1080/14622416.2026.2746614","url":null,"abstract":"<p><strong>Introduction: </strong>Pharmacogenetics is pivotal in modern HIV management, facilitating the transition from the traditional \"one-size-fits-all\" model toward personalized precision medicine. By analyzing how unique genetic profiles influence pharmacological responses, clinicians can maximize therapeutic efficacy while minimizing toxicities and adverse drug reactions. Given the high interindividual variability in antiretroviral drug exposure and the necessity for lifelong treatment, identifying key genetic biomarkers is essential to optimize patient safety, treatment adherence, and overall quality of life.</p><p><strong>Areas covered: </strong>This narrative review evaluates major gene-drug associations in HIV therapy, focusing on <i>HLA-B * 57:01</i> for abacavir, <i>UGT1A1</i> for atazanavir and dolutegravir, and <i>CYP2B6</i> for efavirenz. The research includes an exhaustive review of pharmacogenomic databases (e.g. ClinPGx), regulatory agency labels (FDA, EMA, Swissmedic, HC-SC, PMDA), and clinical guidelines from CPIC and DPWG.</p><p><strong>Expert opinion/commentary: </strong>Integrating pharmacogenetics into clinical practice significantly improves patient safety and treatment adherence. While <i>HLA-B * 57:01</i> screening is widely implemented, barriers remain for other markers, including logistical challenges and the lack of genomic representation for African and Latin American populations. Clinicians must utilize evidence-based resources and remain updated on this evolving field to effectively tailor antiretroviral regimens and practice precision medicine.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-10"},"PeriodicalIF":1.6,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149196083","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
Mapping the development pipeline of genomic point-of-care tests: a horizon scan. 绘制基因组即时检测的发展管道:水平扫描。
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2026-09-10 DOI: 10.1080/14622416.2026.2710146
Shona Haston, James Elgey, Olushola Ewedairo, Elizabeth Green, Alex Inskip, Lena Schmidt, Katie Thomson, Andrew Mkwashi
{"title":"Mapping the development pipeline of genomic point-of-care tests: a horizon scan.","authors":"Shona Haston, James Elgey, Olushola Ewedairo, Elizabeth Green, Alex Inskip, Lena Schmidt, Katie Thomson, Andrew Mkwashi","doi":"10.1080/14622416.2026.2710146","DOIUrl":"https://doi.org/10.1080/14622416.2026.2710146","url":null,"abstract":"<p><strong>Introduction: </strong>As precision medicine increasingly relies on genetic information, the development of reliable genomic point-of-care tests (POCTs) is essential. However, the number of technologies that have reached true clinical usability is limited. There is a growing need for POCTs that enable rapid, accurate analysis of human genetic variation, particularly across diverse clinical settings without requiring specialist expertise.</p><p><strong>Areas covered: </strong>This horizon scan aimed to provide an overview of the development pipeline of POCTs to identify variation(s) in the genome and epigenome that enable the use of genetic information to inform diagnosis, prognosis, and treatment decisions in any clinical area. Database (Embase and MEDLINE) and clinical trial registry (ClinicalTrials.gov) searches were conducted from 2019 to 19 December 2024; 346 unique technologies were identified.</p><p><strong>Expert opinion and commentary: </strong>A range of purposes and conditions were identified; the most common being diagnosis (<i>n</i> = 263) and cancer (<i>n</i> = 237) respectively. We defined 'true POCTs' as those that were highly automated, capable of analyzing complex samples, and operable by non-specialists. Only 36 met these criteria; six are already on the market, one is in clinical trials, and the remaining 29 are at various stages of development. Overall, most technologies were in early stages of development, highlighting the need for further innovation and validation.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-10"},"PeriodicalIF":1.6,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148920591","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
The role of pharmacogenomics in effective pain management with opioids. 药物基因组学在阿片类药物有效疼痛管理中的作用。
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2026-08-01 Epub Date: 2026-09-26 DOI: 10.1080/14622416.2026.2738673
Amanda Massmann, Natasha J Petry, Meghan Haan, Kristen Jacobsen, April Schultz, Jordan F Baye
{"title":"The role of pharmacogenomics in effective pain management with opioids.","authors":"Amanda Massmann, Natasha J Petry, Meghan Haan, Kristen Jacobsen, April Schultz, Jordan F Baye","doi":"10.1080/14622416.2026.2738673","DOIUrl":"10.1080/14622416.2026.2738673","url":null,"abstract":"<p><p>Opioids are commonly prescribed as standards of care for various types of pain. Multiple pathways can impact pain response, and understanding medication metabolism is imperative to achieving optimal analgesic response. Pharmacogenomics (PGx) can assist with understanding interindividual variability and aid in safe medication prescribing. Genetic variants in pharmacokinetic and pharmacodynamic genes have been evaluated, and literature generally favors use of pharmacokinetic associations in clinical practice. Tramadol and codeine have the most literature to support integration of PGx into routine prescribing practices. Hydrocodone and oxycodone have theoretical implications; however, data have been inconsistent. Clinical decision support has been the mainstay of integration of PGx results into routine clinical practice. Future research should focus on additional pathways implicated in opioid metabolism and response to further guide effective pain management with opioids.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"443-458"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149063287","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
Analysis of the influence of rs1801265 polymorphism on DPD enzyme activity and contributing factors in the Chinese population. rs1801265多态性对中国人群DPD酶活性的影响及影响因素分析
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2026-08-01 Epub Date: 2026-10-01 DOI: 10.1080/14622416.2026.2738674
Linkun Pan, Yang Shen, Haibo Jiang, Fangling Wu, Nan Wang, Mengzhen Zhang, Kui Yang, Jiajie Luan, Maodi Xu
{"title":"Analysis of the influence of rs1801265 polymorphism on DPD enzyme activity and contributing factors in the Chinese population.","authors":"Linkun Pan, Yang Shen, Haibo Jiang, Fangling Wu, Nan Wang, Mengzhen Zhang, Kui Yang, Jiajie Luan, Maodi Xu","doi":"10.1080/14622416.2026.2738674","DOIUrl":"10.1080/14622416.2026.2738674","url":null,"abstract":"<p><strong>Introduction: </strong>Dihydropyrimidine dehydrogenase (DPD), encoded by DPYD, is essential for 5-fluorouracil (5-FU) metabolism, yet functional variants remain understudied in Chinese populations.</p><p><strong>Methods: </strong>We enrolled 300 healthy Chinese subjects and measured DPD activity as the HPLC-based 5-FU degradation rate in PBMCs. Five DPYD SNPs selected from NCBI and PharmGKB were genotyped by SNaPshot; genotype-degradation-rate associations were assessed by univariate and multivariable regression with FDR correction, and functional consequences predicted using PolyPhen-2, SIFT, SWISS-MODEL and molecular docking.</p><p><strong>Results: </strong>The median degradation rate was 1.140 ng/mL/10<sup>6</sup> cells/min. c.85T > C (rs1801265) was the only variant associated with a higher degradation rate (<i>p</i> = 0.0041) and remained independently associated in the multivariable model; it is common in Asians (MAF ~7%). In 39 colorectal cancer patients receiving 5-FU-based chemotherapy, carriers showed numerically lower 5-FU AUC and shorter progression-free survival, without statistical significance. Molecular modeling predicted that the Cys29Arg substitution alters DPD conformation and 5-FU binding.</p><p><strong>Conclusion: </strong><i>DPYD</i> c.85T > C (rs1801265) was associated with higher 5-FU degradation capacity in Chinese subjects and is predicted to increase DPD activity. If confirmed, this gain-of-function effect may reduce fluoropyrimidine toxicity but could also warrant dose escalation to maintain efficacy; direct functional assays and prospective patient-cohort validation are required before clinical use.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"431-442"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671442/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149113637","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
The pharmacogenetic of cyclosporine in Tunisian renal transplantation. 环孢素在突尼斯肾移植中的药理学研究。
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2026-08-01 Epub Date: 2026-08-15 DOI: 10.1080/14622416.2026.2718046
Amani Abderahmene, Amira Moussa, Wissal Sahtout, Azzabi Awatif, Meriam Ammar, Dorra Amor, Saoussen Chouchene, Dorsaf Zellama, Ali Bouslama, Asma Omezzine
{"title":"The pharmacogenetic of cyclosporine in Tunisian renal transplantation.","authors":"Amani Abderahmene, Amira Moussa, Wissal Sahtout, Azzabi Awatif, Meriam Ammar, Dorra Amor, Saoussen Chouchene, Dorsaf Zellama, Ali Bouslama, Asma Omezzine","doi":"10.1080/14622416.2026.2718046","DOIUrl":"10.1080/14622416.2026.2718046","url":null,"abstract":"<p><strong>Introduction: </strong>Our study is the first study, in Tunisia, to investigate the effect of SNPs in <i>CYP3A5</i>, <i>CYP3A4</i>, <i>ABCB1</i>, and <i>POR</i> genes on the response to cyclosporine (CsA).</p><p><strong>Methods: </strong>In a retrospective study, a total of 78 renal transplant patients receiving CsA and mycophenolate mofetil (MMF) were recruited. Genotyping was performed using PROFLEX-PCR followed by RFLP.</p><p><strong>Results: </strong>We found a significant lower C0/D CsA in patients with at least one <i>CYP3A4*1B</i> allele compared to the wild type (<i>p</i> = 0.001). We found a statistically significant increased risk of acute and chronic rejection associated with carrying <i>CYP3A5*1/*1</i> or <i>*1/*3</i> compared to the <i>CYP3A5*3/*3</i> and of carrying <i>CYP3A*51B/*1B</i> or <i>*1/*1B</i> compared to the <i>CYP3A4*1/*1</i> (<i>p</i> = 0.001). The occurrence of leukopenia was significantly decreased in patients with at least one <i>CYP3A4*1B</i> allele (<i>p</i> = 0.01). and the occurrence of diarrhea was significantly increased in patients carrying the variant allele of <i>ABCB1-3435C>T</i> (<i>p</i> = 0.005).</p><p><strong>Conclusion: </strong>Our results support the usefulness of CsA pharmacokinetics tests in prekidney transplant assessments.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"415-422"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148761257","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 utilization as a tool for deprescribing in Veterans at high-risk for polypharmacy. 药物基因组学在退伍军人多重用药高风险人群中的应用。
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2026-08-01 Epub Date: 2026-10-01 DOI: 10.1080/14622416.2026.2738672
Lauren Collier Murray, Erica Farina, Lauren Welch, Trisha Seys Ranola, Jennifer Piccolo
{"title":"Pharmacogenomics utilization as a tool for deprescribing in Veterans at high-risk for polypharmacy.","authors":"Lauren Collier Murray, Erica Farina, Lauren Welch, Trisha Seys Ranola, Jennifer Piccolo","doi":"10.1080/14622416.2026.2738672","DOIUrl":"10.1080/14622416.2026.2738672","url":null,"abstract":"<p><strong>Background: </strong>Pharmacogenomics (PGx) assesses how genetic variation influences medication response and can support medication optimization. For patients with substantial medication burden, optimization efforts are essential for improving medication safety. At the Madison VA, Veterans identified through a polypharmacy dashboard receive comprehensive medication reviews to determine opportunities for deprescribing. This quality improvement pilot evaluates the impact of incorporating PGx-guided recommendations into these deprescribing focused reviews.</p><p><strong>Methods: </strong>Veterans at a community‑based ambulatory care clinic identified via the polypharmacy dashboard were included in this pilot if they were taking at least two PGx-impacted medications based on the standard 22-gene panel available within the Veterans Health Administration. PGx Clinical Pharmacist Practitioners (CPPs) consented Veterans for PGx testing, conducted chart reviews, and completed telehealth visits to deprescribe medications based on PGx results if appropriate.</p><p><strong>Results: </strong>Fifty-eight patients met criteria and 50 completed PGx testing. After exclusions, 44 patients were analyzed. Deprescribing recommendations were made for 75% (33/44) of patients, resulting in 15 PGx-guided deprescribing interventions.</p><p><strong>Conclusion: </strong>Incorporating PGx into existing workflows enhances medication optimization and supports deprescribing for Veterans at high risk of polypharmacy.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"387-394"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149113643","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
Genetic variation and response to platinum chemotherapy in cancer treatment: a review article. 癌症治疗中的遗传变异和对铂类化疗的反应:综述文章。
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2026-08-01 Epub Date: 2026-09-11 DOI: 10.1080/14622416.2026.2729991
Ryan S Hilton, Laura S Graham
{"title":"Genetic variation and response to platinum chemotherapy in cancer treatment: a review article.","authors":"Ryan S Hilton, Laura S Graham","doi":"10.1080/14622416.2026.2729991","DOIUrl":"10.1080/14622416.2026.2729991","url":null,"abstract":"<p><p>Platinum-based chemotherapies, including cisplatin, carboplatin, and oxaliplatin, are foundational treatments of multiple solid tumor types, inducing cell death via DNA cross-linking. Genetic markers of DNA repair have been extensively studied as determinants of response. We searched MEDLINE (2000-2026) and appraised 204 publications, contributing 212 study entries, against a four-tier evidence hierarchy, distinguishing throughout between prognostic vs. predictive biomarker claims. Defects in nucleotide excision repair and homologous recombination repair are associated with outcomes with platinum therapy across nearly every tumor type examined. Evidence supporting these markers as predictors of platinum-specific benefit is far narrower. Of 212 entries reviewed, only 10 compared platinum against an alternative regimen under randomized allocation, and five of these found no differential benefit. Homologous recombination deficiency predicts benefit from platinum-based therapy in high-grade serous ovarian carcinoma and randomized data support a predictive role for germline <i>BRCA1/2</i> mutations in triple-negative breast cancer. For ERCC1, two randomized trials disagree, and no assay identified in this review distinguishes the single isoform competent to form the incision complex with XPF.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"459-477"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671440/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148945372","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
Process evaluation of a pharmacogenomic informed antidepressant prescribing intervention delivered in primary care: findings from the PRESIDE (PhaRmacogEnomicS in Depression) trial. 初级保健中药物基因组学告知抗抑郁药物处方干预的过程评估:来自PRESIDE(抑郁症药物基因组学)试验的结果。
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2026-08-01 Epub Date: 2026-09-28 DOI: 10.1080/14622416.2026.2736305
Georgia Ramsay, Madeline Luke, Philip Ly, Rachel Brooks, Matthew Thoenig, Elise Dettmann, Jennifer Bibb, Floriana La Rocca, Patty Chondros, Cathrine Mihalopoulos, Mary Lou Chatterton, Melanie Galea, Adrian Laughlin, Jane Gunn, Timothy Chen, Thomas M Polasek, Victoria J Palmer, Chad Bousman, Sibel Saya, Jon Emery
{"title":"Process evaluation of a pharmacogenomic informed antidepressant prescribing intervention delivered in primary care: findings from the PRESIDE (PhaRmacogEnomicS in Depression) trial.","authors":"Georgia Ramsay, Madeline Luke, Philip Ly, Rachel Brooks, Matthew Thoenig, Elise Dettmann, Jennifer Bibb, Floriana La Rocca, Patty Chondros, Cathrine Mihalopoulos, Mary Lou Chatterton, Melanie Galea, Adrian Laughlin, Jane Gunn, Timothy Chen, Thomas M Polasek, Victoria J Palmer, Chad Bousman, Sibel Saya, Jon Emery","doi":"10.1080/14622416.2026.2736305","DOIUrl":"10.1080/14622416.2026.2736305","url":null,"abstract":"<p><strong>Background: </strong>Major depressive disorder (MDD) impacts 300 million people globally, with most people being managed in primary care. Clinical response to antidepressant medications is highly variable. Pharmacogenomics (PGx) may improve prescribers' ability to match an antidepressant medication with patient phenotype, increasing the likelihood of a response.</p><p><strong>Objectives: </strong>This process evaluation aims to understand factors that impacted PGx intervention implementation in the PRESIDE Trial, conducted in general practices in Victoria, Australia.</p><p><strong>Methods: </strong>Antidepressant prescribing data, evidence of intervention use and qualitative data from interviews with participants were included. Analysis and interpretation of the data were informed by the (UK) Medical Research Council's Framework for Developing and Evaluating Complex Interventions.</p><p><strong>Results: </strong>While clinicians and patients supported PGx informed antidepressant prescribing, documented uptake of the intervention was low, as were antidepressant medication initiations or changes in line with the PGx report. Participants reported a lack of clarity regarding follow-up processes post PGx report return. The impact of COVID-19 during trial implementation included delays to intervention delivery. The provision of mental health care in primary care settings was also impacted.</p><p><strong>Conclusions: </strong>Future applications of PGx informed antidepressant prescribing would benefit from refined patient selection and ensuring PGx information is available when most useful.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"377-385"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671452/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149070019","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
The influence of pharmacogenetics on the treatment-related outcomes of antidepressants and antipsychotics in Brazil: a systematic review. 药物遗传学对巴西抗抑郁药和抗精神病药治疗相关结果的影响:一项系统综述。
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2026-08-01 Epub Date: 2026-09-15 DOI: 10.1080/14622416.2026.2729992
Marina Celis Teixeira, Luiz Gustavo Dos Santos Lima, Carolina Dagli-Hernandez, Marília Berlofa Visacri, Patricia Melo Aguiar
{"title":"The influence of pharmacogenetics on the treatment-related outcomes of antidepressants and antipsychotics in Brazil: a systematic review.","authors":"Marina Celis Teixeira, Luiz Gustavo Dos Santos Lima, Carolina Dagli-Hernandez, Marília Berlofa Visacri, Patricia Melo Aguiar","doi":"10.1080/14622416.2026.2729992","DOIUrl":"10.1080/14622416.2026.2729992","url":null,"abstract":"<p><strong>Introduction: </strong>Pharmacogenetics investigates how genetic variability influences drug response, with particular relevance in psychiatry, where treatment often requires trial-and-error approaches. However, most pharmacogenetic evidence derives from predominantly European populations, limiting its applicability to admixed populations like Brazil's. This study aimed to synthesize evidence on genetic determinants of antidepressant and antipsychotic treatment outcomes in Brazilian populations.</p><p><strong>Methods: </strong>PubMed, Embase, BVS/Bireme and Google Scholar were systematically searched up to January 2026. Two reviewers screened studies and assessed quality. Eligible studies were observational, conducted in Brazil, evaluating pharmacogenetic influences on adults using antidepressants or antipsychotics.</p><p><strong>Results: </strong>19 papers were included, comprising 2,590 participants; 46% females. In schizophrenia, variants in <i>CYP2C19</i>, <i>DRD1</i>, <i>DRD2</i>, and <i>CYP1A2</i> were associated with clozapine safety and response. In bipolar disorder, <i>GAD1</i> variants were linked to lower Glu/GABA ratio. In major depressive disorder, all <i>CYP2C19</i> ultrarapid metabolizers required combination therapy to achieve remission. For smoking cessation, <i>CYP2B6</i> rs2279343 AA showed greater success with bupropion. In obsessive-compulsive disorder, <i>HTR2A</i> and <i>HTR1B</i> variants were associated with differential treatment response.</p><p><strong>Conclusion: </strong>Brazilian studies report relevant gene-drug associations, but sample limitations reduce generalizability. Therefore, routine pharmacogenetic testing in Brazilian psychiatric practice remains premature.</p><p><strong>Registration number: </strong>PROSPERO CRD42024533782.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"505-523"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671432/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148970677","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 and artificial intelligence in cardiovascular disease: emerging tools for precision medicine. 心血管疾病中的药物基因组学和人工智能:精准医疗的新兴工具。
IF 1.6 4区 医学
Pharmacogenomics Pub Date : 2026-08-01 Epub Date: 2026-09-14 DOI: 10.1080/14622416.2026.2732154
Serap Yalçın Azarkan, Fikret Keleş
{"title":"Pharmacogenomics and artificial intelligence in cardiovascular disease: emerging tools for precision medicine.","authors":"Serap Yalçın Azarkan, Fikret Keleş","doi":"10.1080/14622416.2026.2732154","DOIUrl":"10.1080/14622416.2026.2732154","url":null,"abstract":"<p><p>Cardiovascular diseases (CVD) remain a predominant cause of mortality and morbidity globally. Conventional therapy methods may be constrained by their inadequate acknowledgment of individual genetic and clinical variations. In this context, pharmacogenetics and artificial intelligence (AI) applications, essential elements of the precision medicine approach, present a novel paradigm for the management of cardiovascular disorders. Pharmacogenetics elucidates the genetic basis of individual responses to drugs, thereby improving treatment success and minimizing adverse drug effects. Conversely, artificial intelligence facilitates enhanced diagnostic accuracy, risk assessment, and treatment strategy formulation through the analysis of extensive and complex clinical, genetic, and imaging datasets. The amalgamation of these two domains provides substantial benefits in formulating tailored treatment plans and enhances clinical decision-making processes. Nonetheless, obstacles including data security, ethical concerns, and insufficient clinical validation hinder the extensive adoption of these technologies. In conclusion, the integration of pharmacogenetics and artificial intelligence has considerable promise for the enhanced, secure, and individualized management of cardiovascular illnesses. PubMed, Google Scholar, Scopus, and Web of Science were searched for relevant literature published from 1990 to 2026, with particular emphasis on recent and clinically relevant studies.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"491-503"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671457/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148963649","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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