Pharmacogenomics最新文献

Pharmacogenetics of venlafaxine response in older adults with depression and chronic lower back pain. 老年抑郁症和慢性腰痛患者文拉法辛反应的药物遗传学研究。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-05-08 DOI: 10.1080/14622416.2026.2669395

Martin Kronenbuerger, Leen Magarbeh, Stefan Kloiber, Emytis Tavakoli, Ilona Gorbovskaya, Arun Tiwari, James L Kennedy, Jordan F Karp, Daniel J Muller, Samar S M Elsheikh

{"title":"Pharmacogenetics of venlafaxine response in older adults with depression and chronic lower back pain.","authors":"Martin Kronenbuerger, Leen Magarbeh, Stefan Kloiber, Emytis Tavakoli, Ilona Gorbovskaya, Arun Tiwari, James L Kennedy, Jordan F Karp, Daniel J Muller, Samar S M Elsheikh","doi":"10.1080/14622416.2026.2669395","DOIUrl":"https://doi.org/10.1080/14622416.2026.2669395","url":null,"abstract":"Background: Late-life depression (LLD) and chronic low back pain frequently co-occur and exacerbate one another. Outcomes with antidepressant treatment in this population are often suboptimal. Pharmacogenetic factors may help explain variability in antidepressant response. Building on prior findings suggesting that SLC6A2 variation predicts venlafaxine response in LLD, we examined whether such genetic associations extend to older adults with chronic low back pain in the ADAPT study (Addressing Depression and Pain Together).Methods: Older adults with LLD and chronic low back pain received venlafaxine treatment over 20 weeks. The primary analysis focused on the SLC6A2 rs2242446 variant, whereas secondary analyses evaluated 37 variants across 14 candidate genes implicated in depression or pain. Outcomes included percentage improvement in PHQ-9 scores, remission, and time to remission.Results: Genotype data were available for 101 participants. Primary analyses showed no association between SLC6A2 rs2242446 and any outcome measure. In secondary analyses, the serotonin 1A receptor gene (HTR1A) variant rs6295 emerged as the most consistent nominal genetic signal.Conclusion: Previously reported pharmacogenetic signal involving SLC6A2 did not extend to a more clinically complex population, whereas exploratory serotonergic variation showed a nominal association. Findings inform pharmacogenetic research in late-life depression with comorbid pain.Clinical trial registration identifier is NCT01124188.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-15"},"PeriodicalIF":1.9,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147841329","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 use of cell-free DNA (cfDNA)/circulating tumor DNA (ctDNA) to guide treatment selection in metastatic breast cancer. 利用游离DNA (cfDNA)/循环肿瘤DNA （ctDNA）指导转移性乳腺癌的治疗选择。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-04-19 DOI: 10.1080/14622416.2026.2658438

Oluwaferanmi Bello, Olivia Rieur, Neelima Vidula

{"title":"The use of cell-free DNA (cfDNA)/circulating tumor DNA (ctDNA) to guide treatment selection in metastatic breast cancer.","authors":"Oluwaferanmi Bello, Olivia Rieur, Neelima Vidula","doi":"10.1080/14622416.2026.2658438","DOIUrl":"https://doi.org/10.1080/14622416.2026.2658438","url":null,"abstract":"Metastatic breast cancer is a heterogeneous disease entity with varying genomic alterations. Mutations may be acquired through tumor evolution under the pressure of treatment. While both tumor tissue genotyping and cell-free DNA (cfDNA)/circulating tumor DNA (ctDNA) may be used to identify actionable mutations for therapeutic intervention, cfDNA/ctDNA offer the advantages of being less invasive and more feasible for serial sampling, which make them conducive for real-time tumor genotyping. In addition, due to heterogeneity within a tumor, a single tumor tissue biopsy may not capture all mutations present. This article examines cfDNA assays, which may serve as a complementary tool to tumor tissue genotyping for guiding treatment selection in metastatic breast cancer. The biology of cfDNA release, preanalytical handling, assay platforms, and detection limits are summarized here. Actionable genomic mutations such as PIK3CA, ESR1, ERBB2, BRCA1/2, and AKT/PTEN are reviewed in relation to their corresponding therapeutic agents. Implementation challenges, pre-analysis pitfalls, uncertain sampling cadence, cost barriers, and disparities in access are discussed, along with potential solutions.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-11"},"PeriodicalIF":1.9,"publicationDate":"2026-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147723599","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 future of pharmacogenomics in cardiovascular medicine. 药物基因组学在心血管医学中的应用前景。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-04-17 DOI: 10.1080/14622416.2026.2658437

Marianna Danielli, Nicole Benfield, Helen R Warren, Patricia B Munroe

{"title":"The future of pharmacogenomics in cardiovascular medicine.","authors":"Marianna Danielli, Nicole Benfield, Helen R Warren, Patricia B Munroe","doi":"10.1080/14622416.2026.2658437","DOIUrl":"https://doi.org/10.1080/14622416.2026.2658437","url":null,"abstract":"Pharmacogenomics (PGX) offers a key route to individualizing cardiovascular therapy, with robust evidence now supporting genotype-guided prescribing for commonly prescribed cardiovascular drugs, such as antiplatelets, -beta-blockers, statins and anticoagulants, yet clinical implementation remains inconsistent. This review summarizes the current state of cardiovascular PGX within clinical practice across major drug classes, highlighting some more recent implementation settings, and considers from the progression toward multigene panels. This review reflects upon the current progress of PGX genome-wide association studies for discovering novel genes influencing drug response, considering the ongoing study design challenges and use of different datasets: from clinical trials to consortium-based meta-analysis and now large biobanks using electronic health record data. This review evaluates the clinical implementation status of PGX, outlining the challenges still remaining, and suggesting possible future directions. The issue of cost effectiveness for PGX is critically assessed as one likely barrier, with unresolved questions around economic sustainability and equitable access. By reviewing some of the new PGX initiatives, in the UK and internationally, we discuss where the greatest promise may lie, for PGX to be able to realize its potential in future real-world cardiovascular care and become embedded as a routine, preemptive component of cardiovascular precision prescribing.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-14"},"PeriodicalIF":1.9,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147699500","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

Acute hemolytic anemia and methemoglobinemia in a pediatric oncology patient with G6PD deficiency: a case report. 小儿肿瘤G6PD缺乏症患者急性溶血性贫血和高铁血红蛋白血症1例报告。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-04-13 DOI: 10.1080/14622416.2026.2658474

Chaja N Klein, Monique H Suijker, Katja M J Heitink-Pollé, Maaike Luesink, Lidwien Hanff, Alwin D R Huitema, Meta H M Diekstra

{"title":"Acute hemolytic anemia and methemoglobinemia in a pediatric oncology patient with G6PD deficiency: a case report.","authors":"Chaja N Klein, Monique H Suijker, Katja M J Heitink-Pollé, Maaike Luesink, Lidwien Hanff, Alwin D R Huitema, Meta H M Diekstra","doi":"10.1080/14622416.2026.2658474","DOIUrl":"https://doi.org/10.1080/14622416.2026.2658474","url":null,"abstract":"Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common enzymatic disorder that is often asymptomatic until exposure to oxidative stress, such as certain medications. Rasburicase, used for tumor lysis syndrome (TLS) prophylaxis, can trigger hemolysis in G6PD-deficient patients.Case presentation: We report a nine-year-old Asian boy with acute myeloid leukemia (AML) and hyperleukocytosis who developed severe hemolytic anemia and methemoglobinemia shortly after receiving rasburicase for TLS. Enzymatic testing suggested G6PD deficiency but was unreliable due to hyperleukocytosis. Rasburicase was discontinued, and supportive care with ascorbic acid led to rapid clinical improvement. Subsequent gene-panel analysis using whole exome sequencing (WES) confirmed a pathogenic class B G6PD variant (Viangchan).Conclusion: This case highlights the need for caution when administering rasburicase to patients with unknown G6PD status, particularly in individuals from regions or ethnic groups with a high prevalence of G6PD deficiency. Enzymatic testing may become unreliable due to hyperleukocytosis or recent transfusions. Therefore, close monitoring of hemolysis parameters with a low transfusion threshold in acute hemolytic anemia is essential. Genotyping using WES or whole genome sequencing (WGS) provides definitive G6PD variant classification. This enables careful dose adjustments and proactive monitoring for G6PD-related hemolysis caused by high-risk drugs in pediatric oncology.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-5"},"PeriodicalIF":1.9,"publicationDate":"2026-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147675759","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

Correction. 修正。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-02-16 DOI: 10.1080/14622416.2026.2632485

引用次数: 0

Correction. 修正。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-01-20 DOI: 10.1080/14622416.2026.2619352

引用次数: 0

Dihydropyrimidine dehydrogenase (DPYD) genetic testing and treatment with 5-fluoropyrimidines in cancer patients: prevalence of variants with decreased activity and chemotherapy outcomes. 癌症患者的二氢嘧啶脱氢酶（DPYD）基因检测和5-氟嘧啶治疗：活性降低变异的患病率和化疗结果

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-01-01 Epub Date: 2026-03-09 DOI: 10.1080/14622416.2026.2641748

Christopher Rosso, Michela Febbraro, Ioannis A Voutsadakis

{"title":"Dihydropyrimidine dehydrogenase (DPYD) genetic testing and treatment with 5-fluoropyrimidines in cancer patients: prevalence of variants with decreased activity and chemotherapy outcomes.","authors":"Christopher Rosso, Michela Febbraro, Ioannis A Voutsadakis","doi":"10.1080/14622416.2026.2641748","DOIUrl":"10.1080/14622416.2026.2641748","url":null,"abstract":"Background: Fluoropyrimidines are among the most useful drugs in oncology with an established record of efficacy and safety. A minority of oncology patients bear genetic variants with reduced activity of the main enzyme catabolizing these drugs, dihydropyrimidine dehydrogenase (DPYD) and may be prone to severe or even lethal adverse effects.Patients and methods: We reviewed the records of gastrointestinal and breast cancer patients treated in our cancer center for the identification of cases that had DPYD genetic testing for variants and received treatment with fluoropyrimidines. The records of patients fulfilling these criteria were retrieved, and the prevalence of the different variants and their clinical implications and outcomes were recorded.Results: The overall prevalence of four common DPYD variants was 7.3% (10 of 137 patients). Most prevalent variant was the haplotype HapB3 (five patients, 3.6%), followed by the DPYD p.D949V variant (3 patients, 2.2%), while one patient each (0.7%) had the two null variants DPYD*2A and DPYD*13.Conclusion: A sizable minority of oncology patients bear variants of DPYD with reduced activity and may be at increased risk of fluoropyrimidine toxicities if treated at full doses. However, variability within the same genotype exists.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"27-34"},"PeriodicalIF":1.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078210/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147378325","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

Acceptance of recommendations by a pharmacogenetics clinic. 接受药物遗传学诊所的建议。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-01-01 Epub Date: 2026-03-24 DOI: 10.1080/14622416.2026.2640827

Hana Al Alshaykh, Emily Cicali, Larisa H Cavallari, J Katherine Huber, Roy Williams, Ghadah Alayban, Waad Asiri, Gamal Mohamed, Neeka Akhavan, Neal Holland, Edlira Maska, Ying Nagoshi, Danielle Panna, Ashleigh Wright, Jessica Portillo Romero, Kristin Wiisanen

{"title":"Acceptance of recommendations by a pharmacogenetics clinic.","authors":"Hana Al Alshaykh, Emily Cicali, Larisa H Cavallari, J Katherine Huber, Roy Williams, Ghadah Alayban, Waad Asiri, Gamal Mohamed, Neeka Akhavan, Neal Holland, Edlira Maska, Ying Nagoshi, Danielle Panna, Ashleigh Wright, Jessica Portillo Romero, Kristin Wiisanen","doi":"10.1080/14622416.2026.2640827","DOIUrl":"10.1080/14622416.2026.2640827","url":null,"abstract":"Aim: Assess the acceptance of genotype-based pharmacist recommendations made within a pharmacogenetics (PGx) clinic.Methods: Patients seen by the UF Health PGx clinic between 2017 and 2022 were included in a retrospective chart review. We evaluated CYP2D6/CYP2C19 and three drug classes (opioids, selective serotonin reuptake inhibitors [SSRIs], proton pump inhibitors [PPIs]). Gene-drug pairings were classified as concordant/discordant based on pharmacist recommendations, derived from guidelines. The concordance was compared between baseline, or time that PGx results were available, at 3- and 12-months after the visit. Acceptance of recommendations was inferred by a reduction in discordant gene-drug pairs.Results: 201 patients with PGx results were seen at the clinic. There were 101 relevant prescriptions at baseline; of these 50 (50%) were discordant based on CYP2C19/CYP2D6 phenotypes. This decreased to 22 (22%); acceptance rate = 56% at 3-months (28 of 50 recommendations accepted), p-value < 0.05. At baseline, there were 28 SSRIs prescriptions, 18 (64%) were discordant versus 7 (25%) at 3-months; acceptance rate = 61%, p-value < 0.05. Of the 60 PPIs prescriptions at baseline, 25 (42%) were discordant, decreasing to 6 (10%) at 3-months; acceptance rate = 76%, p-value < 0.05.Conclusion: We observed a reduction in discordant gene-drug pairs as a result of PGx pharmacist recommendations acceptance.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"9-17"},"PeriodicalIF":1.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147504778","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

Antiplatelet therapy in high-bleeding risk patients with acute coronary syndrome: pharmacogenomics in the era of precision medicine. 急性冠脉综合征高危出血患者的抗血小板治疗：精准医学时代的药物基因组学

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-01-01 Epub Date: 2026-03-30 DOI: 10.1080/14622416.2026.2648609

Nikolaos Michailidis, Myria Pallikarou, Vangelis G Manolopoulos, Vasileios Moschovidis, Antonios Ziakas, Georgia Ragia, George Kassimis

{"title":"Antiplatelet therapy in high-bleeding risk patients with acute coronary syndrome: pharmacogenomics in the era of precision medicine.","authors":"Nikolaos Michailidis, Myria Pallikarou, Vangelis G Manolopoulos, Vasileios Moschovidis, Antonios Ziakas, Georgia Ragia, George Kassimis","doi":"10.1080/14622416.2026.2648609","DOIUrl":"10.1080/14622416.2026.2648609","url":null,"abstract":"The management of high-bleeding risk (HBR) patients undergoing percutaneous coronary intervention (PCI) for an acute coronary syndrome (ACS) remains a significant challenge, requiring careful balancing of ischemic prevention and bleeding avoidance. Bleeding risk reduction in patients with HBR treated with newer-generation drug-eluting stents includes P2Y12 inhibitor intensity de-escalation, shortening of the dual antiplatelet therapy (DAPT) duration and monotherapy with a P2Y12 inhibitor. Although data for HBR patients are limited, an individualized approach is required. Preference for a short DAPT duration and use of clopidogrel where indicated may reduce bleeding incidence without incurring ischemic risk. Pharmacogenomic testing for CYP2C19 helps personalize antiplatelet therapy in specific patient subgroups. We herein discuss current data and limitations of DAPT strategies in the understudied HBR patient population with ACS undergoing PCI. A literature search of PubMed/MEDLINE and Embase (inception-January 2026) identified randomized trials, meta-analyses, registries, and major guidelines (ESC, ACC/AHA, JCS) on ACS, high-bleeding risk, CYP2C19-guided antiplatelet strategies, de-escalation, and monotherapy. Individualized antiplatelet therapy, genetic characteristics and clinical parameters, should be integrated in the management of such patients. Clopidogrel pharmacogenomics and modern monotherapy or short DAPT strategies promise improved safety and efficacy, with the patient at the center of the therapeutic decision.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"43-54"},"PeriodicalIF":1.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078223/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147575128","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

Influence of transporter polymorphisms on digoxin serum concentrations: a systematic review and meta-analysis. 转运蛋白多态性对地高辛血清浓度的影响：一项系统回顾和荟萃分析。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-01-01 Epub Date: 2026-03-11 DOI: 10.1080/14622416.2026.2641750

Xin Yee Low, Muhammad Danish Badrul Hisham, Jia Wen Lee, Lk Teh

{"title":"Influence of transporter polymorphisms on digoxin serum concentrations: a systematic review and meta-analysis.","authors":"Xin Yee Low, Muhammad Danish Badrul Hisham, Jia Wen Lee, Lk Teh","doi":"10.1080/14622416.2026.2641750","DOIUrl":"10.1080/14622416.2026.2641750","url":null,"abstract":"Introduction: Polymorphisms in transporter (P-gp, OATP) genes affect digoxin pharmacokinetics and are crucial for predicting toxicity due to its narrow therapeutic index. However, evidence regarding their effects on digoxin serum concentrations remain inconsistent. This systematic review and meta-analysis aimed to evaluate the influence of transporter polymorphisms on digoxin serum concentrations.Methods: A systematic search of EBSCOhost, Scopus, PubMed, Web of Science and ClinPGx was conducted up to May 2025. Study quality was evaluated using the Newcastle-Ottawa Scale. Mean differences with 95% confidence intervals were calculated for digoxin serum concentrations (Cmax, AUC, and SDC) using a random-effects model. Statistical heterogeneity was assessed using the I2 statistic, and subgroup analyses were performed.Results: Nineteen eligible studies were identified. A significant association was observed between ABCB1 C3435T polymorphism and elevated digoxin Cmax across multiple genetic models, with the largest effect observed between codominant T/T versus C/C (MD: 0.40 ng/mL; 95% CI: 0.14-0.66). Conversely, opposite associations were observed in the Japanese population, where C allele carriers had higher digoxin AUC0-4 hr.Conclusion: The ABCB1 C3435T polymorphism influences digoxin serum concentrations and may inform genotype-guided therapy. However, the limited number of studies in meta-analysis warrants further well-designed studies.This systematic review and meta-analysis was not registered in any protocol registry.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"55-70"},"PeriodicalIF":1.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078199/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147434708","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