Pharmacogenomics最新文献_第3页

Current knowledge in pharmacogenomics and precision medicine: perspectives of the PGRN global PGx committee on improving drug therapies in underrepresented ethnic populations. 药物基因组学和精准医学的当前知识：PGRN全球PGx委员会对改善代表性不足的种族人群的药物治疗的观点。

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-07-01 Epub Date: 2026-08-11 DOI: 10.1080/14622416.2026.2710849

Mohamed Nagy, Gerard Marshall Raj, Rekha Priyadarshini, Luis Abel Quiñones, Amit Kumar Mitra, Lay Kek Teh, Aniwaa Owusu-Obeng, Ben Kong, Folefac Aminkeng, Collen Masimirembwa, Chakradhara Rao Satyanarayana Uppugunduri

{"title":"Current knowledge in pharmacogenomics and precision medicine: perspectives of the PGRN global PGx committee on improving drug therapies in underrepresented ethnic populations.","authors":"Mohamed Nagy, Gerard Marshall Raj, Rekha Priyadarshini, Luis Abel Quiñones, Amit Kumar Mitra, Lay Kek Teh, Aniwaa Owusu-Obeng, Ben Kong, Folefac Aminkeng, Collen Masimirembwa, Chakradhara Rao Satyanarayana Uppugunduri","doi":"10.1080/14622416.2026.2710849","DOIUrl":"10.1080/14622416.2026.2710849","url":null,"abstract":"A precision medicine strategy is likely to be more impactful, when pharmacogenomics (PGx) guided selection of drugs and dosage wherever applicable is implemented across the globe. In regions where resources are disproportionately distributed, PGx implementation in routine clinical care can play a critical role in ensuring the optimal use of limited healthcare infrastructure. At present, PGx data from the majority of the distinct ethnic populations across Asia, Africa, and South America is limited. While international consortia, working groups, and scientific bodies have made significant contributions toward evaluating the evidence for PGx implementation, the majority of existing guidelines and recommendations are derived primarily from studies conducted in a limited number of ethnic groups. Precision Medicine Initiatives in countries like Korea, Taiwan, and Malaysia and PGx organizations like the African Institute of Biomedical Science and Technology (AiBST), Consortium for Genomics & Therapeutics in Africa (CGTA), implementation of pharmacogenetic testing for the effective care and treatment in Africa, Greater Middle East (GME) whole exome sequencing program, Ibero-American Network of Pharmacogenetics and Pharmacogenomics (RIBEF), Latin American Society of Pharmacogenomics and Personalized Medicine (SOLFAGEM), Latin American Network for Validation and Implementation of Pharmacogenomic Clinical Guidelines (RELIVAF), IndiGen initiative, Southeast Asian Pharmacogenomics Research Network (SEAPharm), are working toward consolidating the PGx presence in these regions.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"325-344"},"PeriodicalIF":1.6,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13556945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148707455","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

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-05-01 Epub Date: 2026-06-16 DOI: 10.1080/14622416.2026.2686869

Luka Penezić, Sandra Nađ Škegro, Lana Ganoci, Livija Šimičević, Mila Lovrić, Nada Božina, Vladimir Trkulja

{"title":"Closely similar tacrolimus morning troughs and graft function across the recipients' common ABCB1 polymorphisms (c.2677G>T/A, c.1236C>T, c.3435C>T) early after renal transplantation.","authors":"Luka Penezić, Sandra Nađ Škegro, Lana Ganoci, Livija Šimičević, Mila Lovrić, Nada Božina, Vladimir Trkulja","doi":"10.1080/14622416.2026.2686869","DOIUrl":"10.1080/14622416.2026.2686869","url":null,"abstract":"Background: Reports about relevance of three common and linked ABCB1 polymorphisms (c.2677G>T/A, c.1236C>T, c.3435C>T) for exposure to- and functional outcomes in tacrolimus-treated renal transplant patients are inconsistent.Methods: Tacrolimus morning troughs/dose-corrected troughs and serum creatinine/estimated glomerular filtration rate (eGFR) were measured on 6th-7th and 8th-10th postoperative day in tacrolimus-mycophenolate-treated renal transplant patients. Exposure was defined as the number of ABCB1 variant alleles (three levels; 0-1 variant = control) or as diplotypes (three levels, wild-type = control). Four target trials were emulated (2 exposure definitions × 2 outcome categories) contrasting exposed and controls for ln-transformed outcomes, and for creatinine/eGFR also on natural scales. Complementary mediation analysis related exposure, troughs, and eGFR.Results: The 173 enrolled patients provided 316 paired trough and creatinine/eGFR values. After correction for strong residual confounding, all GMRs (95% CrI) for troughs remained within the 0.75-1.33 range. All GMRs (95% CrI) for ln-trasformed creatinine/eGFR were within the 0.75-1.33 range. On the natural scale, creatinine/eGFR differences were within -26.5 to 26.5 μmol/L and -5.0 to 5.0 mL/min/1.73 m2, respectively. In mediation analysis, direct, indirect, and total effects were within the same ranges.Conclusions: Renal transplant recipients subsetted by genotypes across the three common ABCB1 polymorphisms display closely similar tacrolimus troughs and graft function early after transplantation.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"213-226"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374762/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148259220","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

Combinations of single gene predictors with AI-driven polygenic precision therapies in cardiovascular diseases. 单基因预测因子与人工智能驱动的多基因精准治疗在心血管疾病中的结合

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-05-01 Epub Date: 2026-06-10 DOI: 10.1080/14622416.2026.2686336

Navakanth Raju Ramayanam, Sarad Pawar Naik Bukke, Chandrashekar Thalluri, Murali Krishna Moka, Yenumula Nettekallu, Ananda Kumar Chettupalli, Neha Gupta, Yasodha Krishna Janapati

{"title":"Combinations of single gene predictors with AI-driven polygenic precision therapies in cardiovascular diseases.","authors":"Navakanth Raju Ramayanam, Sarad Pawar Naik Bukke, Chandrashekar Thalluri, Murali Krishna Moka, Yenumula Nettekallu, Ananda Kumar Chettupalli, Neha Gupta, Yasodha Krishna Janapati","doi":"10.1080/14622416.2026.2686336","DOIUrl":"10.1080/14622416.2026.2686336","url":null,"abstract":"Pharmacogenomics (PGx) is transforming how we treat cardiovascular disease (CVD) by enabling us to select and dose drugs based on our genetic profiles. The pharmacokinetics and pharmacodynamics of commonly prescribed cardiovascular drugs are greatly affected by gene-drug interactions, which improve the therapeutic outcome and reduce adverse drug reactions. This narrative review will summarize evidence on the clinical use of pharmacogenomics (PGx) in cardiology published between 2020 and 2025. The pharmacogenes that have been proved to be clinically useful in the genotype-guided therapy include CYP2C19, SLCO1B1, VKORC1, and CYP2D6. An example is that the use of CYP2C19-guided antiplatelet therapy following percutaneous coronary intervention has been linked to a lower risk of major adverse cardiovascular events (MACE). Similarly, SLCO1B1 genotyping can be used to prevent statin-induced myopathy, with VKORC1 and CYP2C9 variant used to warfarin dosing to reduce the risk of bleeding. Emerging technologies such as polygenic risk scores (PRS) and machine learning (ML) are expanding PGx by capturing multi‑gene contributions to drug response. In this critical review, validated gene-drug interactions are critically evaluated, and a translational roadmap is outlined to implement PGx in the cardiovascular practice to achieve precision medicine and to improve patient-specific outcomes.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"279-286"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148212122","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

Impact of CYP2D6 and ADRB1 polymorphisms on heart rate of post-PCI patients treated with metoprolol. CYP2D6和ADRB1多态性对接受美托洛尔治疗的PCI术后患者心率的影响

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-05-01 Epub Date: 2024-05-31 DOI: 10.2217/pgs-2017-0203

Xiaofeng Gao, Huan Wang, Hui Chen

{"title":"Impact of CYP2D6 and ADRB1 polymorphisms on heart rate of post-PCI patients treated with metoprolol.","authors":"Xiaofeng Gao, Huan Wang, Hui Chen","doi":"10.2217/pgs-2017-0203","DOIUrl":"10.2217/pgs-2017-0203","url":null,"abstract":"Aim: To explore the effect of CYP2D6*10 (100C > T) and ADRB1 1165 G > C polymorphisms on heart rate of post-PCI (percutaneous coronary intervention) patients treated with metoprolol succinate sustained-release tablets. Methods: A total of 756 inpatients with metoprolol succinate sustained-release tablets were selected and the genotypes of CYP2D6*10 and ADRB1 1165G > C were detected in 319 patients using gene chip detection. The target heart rate was defined as a resting heart rate < 70 beats/min. Clinical data were collected. Results: A total of 319 inpatients were enrolled in the study. The mutant allele frequencies of CYP2D6 and ADRB1 were 57.21 and 69.44%, respectively. Whatever the dose of metoprolol, the heart rates were lower in patients with homozygous mutation of CYP2D6 than those with heterozygous mutation and wild-type (p < 0.05). Nevertheless, this effect was not seen between different genotypes of ADRB1. Logistic regression analysis showed that the dose of metoprolol and the genotypes of CYP2D6 were predictors of heart rate <70 beats/min in these patients. Further multivariate analysis indicated that patients with homozygous mutation had better control of heart rates compared with those with wild-type and heterozygous mutation of CYP2D6*10 genotypes (all: p < 0.001). Conclusion:CYP2D6*10 polymorphisms were associated with the heart rate of post-PCI patients treated with metoprolol succinate sustained-release tablets.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"227-235"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35515184","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 for stratified antidepressant treatment in major depressive disorder: evidence, limits and a roadmap for clinical use. 药物基因组学在重度抑郁症分层抗抑郁治疗中的应用：证据、限制和临床应用路线图。

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-05-01 Epub Date: 2026-06-16 DOI: 10.1080/14622416.2026.2686866

Bernhard T Baune

{"title":"Pharmacogenomics for stratified antidepressant treatment in major depressive disorder: evidence, limits and a roadmap for clinical use.","authors":"Bernhard T Baune","doi":"10.1080/14622416.2026.2686866","DOIUrl":"10.1080/14622416.2026.2686866","url":null,"abstract":"Major depressive disorder (MDD) is treated largely by trial and error, despite marked interindividual variation in antidepressant exposure, efficacy and tolerability. Pharmacogenomics (PGx) has therefore been proposed as a route to stratified antidepressant treatment. This Review asks whether current evidence supports that claim by distinguishing actionable drug-gene guidance, clinical utility in broad trial populations and subgroup evidence for stratified care. Contemporary guidance supports genotype-informed prescribing for selected antidepressants, most consistently through CYP2D6 and CYP2C19 and, for selected serotonin reuptake inhibitors, CYP2B6, whereas SLC6A4 and HTR2A are not clinically actionable for antidepressant prescribing. Randomized and pragmatic trials show that PGx reduces drug-gene mismatched prescribing more reliably than symptom outcomes in unselected MDD samples. Meta-analyses suggest small-to-moderate short-term response or remission gains, with larger signals in treatment-exposed, severe or difficult-to-treat patients. PGx is therefore not simply weakly useful for everyone; its strongest current role is selective, subgroup-enriched prescribing where exposure mismatch is plausible. A practical roadmap is to restrict current interpretation to guideline-supported CYP2D6/CYP2C19/CYP2B6 gene-drug pairs, prioritize testing before affected antidepressants or after nonresponse, intolerance or polypharmacy, avoid broad proprietary class assignment, and validate stratified claims in prospective enriched trials.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"269-278"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148259197","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

Optimizing pharmacogenomics workflows: a qualitative evaluation of clinical service delivery models. 优化药物基因组学工作流程：临床服务提供模式的定性评估。

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-05-01 Epub Date: 2026-06-12 DOI: 10.1080/14622416.2026.2686345

Emily Huang, Aniwaa Owusu Obeng, Scott A Stuart, Hetanshi Naik

{"title":"Optimizing pharmacogenomics workflows: a qualitative evaluation of clinical service delivery models.","authors":"Emily Huang, Aniwaa Owusu Obeng, Scott A Stuart, Hetanshi Naik","doi":"10.1080/14622416.2026.2686345","DOIUrl":"10.1080/14622416.2026.2686345","url":null,"abstract":"Despite the promise of personalized medicine, the clinical implementation of pharmacogenomics (PGx) remains limited. Several barriers limiting implementation of PGx have been identified, some of which include provider awareness, uncertainty of clinical utility, and reimbursement issues. As clinical PGx programs have increased, different service models have been established; however, none have been formally described. We aimed to describe and compare current service models to establish a best practice workflow for future PGx programs. Qualitative interviews with 15 PGx providers across the United States were conducted and analyzed using an inductive content analysis approach. All respondents had an e-consult (provider-to-provider) model, with seven also providing a PGx specialty clinic for patients. Reported challenges include lengthy testing processes, scheduling delays, and billing uncertainty. The majority of participants described an ideal PGx workflow as a \"low-touch\" tiered approach where frontline pharmacists offer testing, and PGx experts are a resource for complex drug-gene interactions. This tiered approach should be explored for future PGx implementations.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"193-199"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148227391","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

Impact of ABCB1 gene polymorphism on clopidogrel plasma concentration and cardiovascular events in post-PCI patients. ABCB1基因多态性对pci术后患者氯吡格雷血药浓度及心血管事件的影响

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-05-01 Epub Date: 2025-07-21 DOI: 10.1080/14622416.2025.2534325

Abdur Razaq, Waheed Iqbal, Syed Tahir Shah, Muhammad Abdur Rauf, Nasser M Aldekhail, Filip Van Nieuwerburgh, Sami Siraj

{"title":"Impact of ABCB1 gene polymorphism on clopidogrel plasma concentration and cardiovascular events in post-PCI patients.","authors":"Abdur Razaq, Waheed Iqbal, Syed Tahir Shah, Muhammad Abdur Rauf, Nasser M Aldekhail, Filip Van Nieuwerburgh, Sami Siraj","doi":"10.1080/14622416.2025.2534325","DOIUrl":"10.1080/14622416.2025.2534325","url":null,"abstract":"Aim: This study investigated the impact of ABCB1 gene polymorphisms on clopidogrel absorption and therapeutic response by analyzing plasma levels of the clopidogrel carboxylic acid metabolite (CAM), and cardiovascular events (CVEs) in patients undergoing percutaneous coronary intervention (PCI).Methods: A prospective cohort study of 264 post-PCI patients was conducted in Peshawar, Pakistan. CVEs over 12 months were recorded. Plasma concentrations of CAM were measured by high-performance liquid chromatography (HPLC), while the ABCB1 gene (rs1045642) was genotyped by Sanger sequencing to determine associations between genetic variants, CAM levels, and clinical outcomes.Results: The study documented 54 CVEs, including 13 deaths, 6 stent thromboses, 10 recurrent myocardial infarctions, 23 ischemic events requiring hospitalization, and 2 strokes. The analysis showed that 31.1% of patients had subtherapeutic CAM levels ( <2000 ng/ml), while 68.9% had therapeutic levels. Genetic analysis identified 65% as poor absorbers (CT/TT genotypes) and 35% as good absorbers (CC genotype), while CAM levels were significantly associated with the CT/TT genotype (p < 0.005).Conclusion: This study linking ABCB1 variation to CAM concentration and therapeutic outcomes. There was a significant association between ABCB1 variants and CAM concentrations. However, no association was found between ABCB1 polymorphisms and CVEs.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"237-244"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374772/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675442","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

Correction. 修正。

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-05-01 Epub Date: 2026-02-16 DOI: 10.1080/14622416.2026.2632485

引用次数: 0

Adherence to international pharmacogenomic recommendations in pediatric cancer care: a cohort analysis embedded within the MARVEL-PIC randomized trial. 在儿童癌症治疗中遵守国际药物基因组学建议：一项嵌入在MARVEL-PIC随机试验中的队列分析

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-05-01 Epub Date: 2026-07-06 DOI: 10.1080/14622416.2026.2685213

Aniket Chawla, Sean Carter, Roxanne Dyas, Elizabeth Williams, Claire Moore, Rachel Conyers

{"title":"Adherence to international pharmacogenomic recommendations in pediatric cancer care: a cohort analysis embedded within the MARVEL-PIC randomized trial.","authors":"Aniket Chawla, Sean Carter, Roxanne Dyas, Elizabeth Williams, Claire Moore, Rachel Conyers","doi":"10.1080/14622416.2026.2685213","DOIUrl":"10.1080/14622416.2026.2685213","url":null,"abstract":"Background: Pharmacogenomic (PGx) testing can optimize drug efficacy and minimize toxicity, but prescriber adherence to PGx recommendations remains unclear. We aimed to quantify clinician adherence to international PGx recommendations in a cohort of pediatric oncology patients.Methods: We reviewed files of children with PGx recommendations generated through the MARVEL-PIC (NCT05667766) trial. Patients were included if ≥12 weeks had passed since their PGx report was released to clinicians. Prescribing events were identified for actionable and relevant PGx recommendations and classified as \"explicitly followed,\" \"inadvertently followed,\" or \"not followed.\" Adherence was assessed by patient, drug, and recommendation.Results: 2,063 PGx recommendations were available for 216 patients. Sixty‑four (3.1%) recommendations were actionable and relevant to 44 patients and 10 drugs within the 12-week study period. Recommendations were explicitly followed in 57/288 (19.8%) events, inadvertently followed in 145 (50.3%) events, and not followed in 86 (29.9%) prescribing events. Mercaptopurine demonstrated the highest explicit adherence (87.5%). No significant associations were observed between adherence and age group, disease group, drug type, or strength of recommendation.Conclusion: Adherence to PGx recommendations was very low, highlighting a need to understand barriers to PGx implementation, increase education of healthcare professionals, and consider clinical decision support tools to facilitate adherence.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"179-186"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374781/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148397292","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

Considerations for the clinical implementation of DPYD and UGT1A1-guided chemotherapy. 临床实施DPYD和ugt1a1引导化疗的考虑。

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-05-01 Epub Date: 2026-06-06 DOI: 10.1080/14622416.2026.2685871

Mary-Pearl Ojukwu, Carlos Vegas, Emily J Cicali, David L DeRemer, Madeline L Norris

{"title":"Considerations for the clinical implementation of DPYD and UGT1A1-guided chemotherapy.","authors":"Mary-Pearl Ojukwu, Carlos Vegas, Emily J Cicali, David L DeRemer, Madeline L Norris","doi":"10.1080/14622416.2026.2685871","DOIUrl":"10.1080/14622416.2026.2685871","url":null,"abstract":"Existing literature demonstrates the benefits of DPYD and UGT1A1 pharmacogenetic (PGx) testing to reduce toxicity from fluoropyrimidines and irinotecan, respectively. The Food and Drug Administration (FDA) has provided UGT1A1-guided irinotecan dosing for 20 years, and in 2025, the FDA and National Comprehensive Cancer Network both updated their guidance to recommend DPYD testing prior to fluoropyrimidine therapy. As such, there is an increasing interest in testing and a need for guidance describing implementation strategies. This review summarizes conclusions from DPYD and/or UGT1A1 implementation initiatives and describes key takeaways related to perspectives, workflow, cost, and supportive care from 32 included articles. Perspectives toward testing were generally positive, although barriers such as turnaround time and cost concerns were still identified. Workflow integration varied by institution, but a clear delineation of duties was consistently necessary. For both DPYD and UGT1A1, real-world studies and modeling data indicate testing is cost-effective. PGx testing was underutilized for supportive care medications despite its relevance, but there is an opportunity to leverage panel-based approaches to increase utilization without additional workflow burden. Description of these key considerations and takeaways reported by those implementing DPYD and/or UGT1A1 PGx testing would be beneficial to institutions in the early phases of implementation.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"257-267"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148176584","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