Pharmacogenomics最新文献_第4页

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

Correction. 修正。

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-05-01 Epub Date: 2025-12-10 DOI: 10.1080/14622416.2025.2601450

引用次数: 0

Practical guide to implementing pre-emptive pharmacogenetic screening in routine pediatric oncology care. 在常规儿科肿瘤护理中实施预防性药物遗传筛查的实用指南。

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-05-01 Epub Date: 2026-06-09 DOI: 10.1080/14622416.2026.2685210

Emma C Bernsen, Lidwien M Hanff, Theodorus W Kouwenberg, Melanie M Hagleitner, Bastiaan B J Tops, Nienke Biesot, Jayne Y Hehir-Kwa, Alwin D R Huitema, Meta H M Diekstra

{"title":"Practical guide to implementing pre-emptive pharmacogenetic screening in routine pediatric oncology care.","authors":"Emma C Bernsen, Lidwien M Hanff, Theodorus W Kouwenberg, Melanie M Hagleitner, Bastiaan B J Tops, Nienke Biesot, Jayne Y Hehir-Kwa, Alwin D R Huitema, Meta H M Diekstra","doi":"10.1080/14622416.2026.2685210","DOIUrl":"10.1080/14622416.2026.2685210","url":null,"abstract":"Interindividual variability in drug response is a challenge in pediatric oncology, where the risk of treatment-related toxicity is exacerbated by narrow therapeutic windows and combination therapies. Pharmacogenetics (PGx) aims to reduce this variability by linking genetic variants to differences in drug pharmacokinetics, efficacy, and toxicity. Although evidence-based pharmacogenetic guidelines are available covering over 100 gene-drug pairs, systematic use of pre-emptive PGx screening is not yet embedded in routine pediatric oncology care. In a recent study, we demonstrated the relevance of pre-emptive PGx screening in pediatric oncology by showing that 16% of 1,151 patients were eligible for genotype-based drug dose or treatment modifications. Building on these findings, we implemented pre-emptive PGx screening into clinical practice of pediatric oncology in the Netherlands. Successful implementation required addressing challenges, including adaptation of existing infrastructure, interpretation of pharmacogenetic results for a pediatric population, integration into electronic health records, and education of clinical staff. We repurposed diagnostic germline whole genome sequencing (WGS) for individual genetic profiling and applied existing pharmacogenetic guidelines to guide drug dosing and treatment decisions. Here, we describe our implementation strategy for pre-emptive PGx screening in pediatric oncology and share insights to support other centers aiming to integrate PGx screening into routine care.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"245-255"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148212158","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

Guidance from an informed public on collecting and sharing PGx test results for major depressive disorder: "It's no different from your blood type". 知情公众关于收集和分享重度抑郁症PGx检测结果的指导：“这与你的血型没有什么不同”。

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-05-01 Epub Date: 2026-06-15 DOI: 10.1080/14622416.2026.2686870

Colene Bentley, Louisa Edwards, Kieran C O'Doherty, Stirling Bryan, Jehannine J Austin

{"title":"Guidance from an informed public on collecting and sharing PGx test results for major depressive disorder: \"It's no different from your blood type\".","authors":"Colene Bentley, Louisa Edwards, Kieran C O'Doherty, Stirling Bryan, Jehannine J Austin","doi":"10.1080/14622416.2026.2686870","DOIUrl":"10.1080/14622416.2026.2686870","url":null,"abstract":"Introduction: Many people with major depressive disorder (MDD) undergo a lengthy process of trial-and-error before finding a medication that works well for them. Pharmacogenomic (PGx) testing for MDD can help find a suitable antidepressant faster. However, concerns about health equity, and data privacy and security need to be considered before implementing the test.Methods: In Fall 2024, 30 individuals attended a four-day public deliberation in Vancouver, British Columbia (BC) to provide direction on implementing PGx testing for MDD in BC's publicly funded healthcare system. Participants were recruited to represent a diversity of perspectives and experiences of British Columbians. Information supports included expert speakers and a background booklet. Event transcripts were analyzed using thematic analysis (both inductive and reflexive), while also accounting for participants' knowledge gains over time.Results: Participants adopted four policy-relevant positions on implementation: 1) PGx test results should be treated like other lab results; 2) stored in electronic medical records; 3) shared with patients and healthcare professionals in the circle of care; and 4) education about the test will facilitate its widespread use.Conclusion: Participants' positions represent informed, civic-minded, and policy-relevant priorities for the acceptable adoption of PGx testing for MDD in the BC healthcare system and elsewhere.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"201-211"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148252799","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

Reduction of next-generation sequencing files for efficient pharmacogenotype extraction. 减少下一代测序文件，有效提取药物基因型。

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-05-01 Epub Date: 2026-06-08 DOI: 10.1080/14622416.2026.2685208

Hargoon N Kaur, Reynold C Ly, Steven M Bray, Ryan Ratcliff, Ibrahim Numanagic, Todd C Skaar, Tyler Shugg

{"title":"Reduction of next-generation sequencing files for efficient pharmacogenotype extraction.","authors":"Hargoon N Kaur, Reynold C Ly, Steven M Bray, Ryan Ratcliff, Ibrahim Numanagic, Todd C Skaar, Tyler Shugg","doi":"10.1080/14622416.2026.2685208","DOIUrl":"10.1080/14622416.2026.2685208","url":null,"abstract":"Objectives: The most comprehensive computational pharmacogenotype extraction methods utilize Binary Alignment/Map (BAM) files, which require intensive storage resources. The pharmacogenotyping tool Aldy, which has been validated using clinical whole exome (ES) and whole genome sequencing (GS), can also extract genotypes from targeted DNA sequencing. Our objectives were to (1) assess Aldy's genotype extraction accuracy for 14 major pharmacogenes from clinical ES and GS BAMs that were reduced to only contain pharmacogene regions and (2) determine the amount of computational storage resources saved.Patients and methods: Germline ES (n = 160) and GS (n = 94) BAMs were reduced to contain only pharmacogene regions. Aldy was used to extract genotypes for 14 major phamacogenes from both full and reduced BAM files, and results and file sizes were compared.Results: All genotype calls from reduced ES and GS BAMs were concordant with those from full BAMs. Reducing files to only contain pharmacogene regions decreased mean ES and GS BAM sizes from 9,707 megabytes (MB) to 7.6 MB and from 107,353 MB to 51.8 MB, respectively.Conclusions: This analysis demonstrates Aldy's ability to accurately extract pharmacogenotypes from reduced BAM files, decreasing required storage resources by >1,000-fold.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"187-192"},"PeriodicalIF":1.6,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13374767/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148199826","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: 2026-01-20 DOI: 10.1080/14622416.2026.2619352

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 1.6 4区医学

Pharmacogenomics Pub Date : 2026-03-01 Epub 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":"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":"111-121"},"PeriodicalIF":1.6,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13203047/pdf/","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":"OA","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 1.6 4区医学

Pharmacogenomics Pub Date : 2026-03-01 Epub 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":"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":"71-75"},"PeriodicalIF":1.6,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13203063/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prioritizing drugs for future clinical pharmacogenomics studies in Saudi Arabia: a generalizable multi-criteria framework. 优先考虑未来临床药物基因组学研究在沙特阿拉伯：一个通用的多标准框架。

IF 1.6 4区医学

Pharmacogenomics Pub Date : 2026-03-01 Epub Date: 2026-05-10 DOI: 10.1080/14622416.2026.2669396

Mustafa Adnan Malki

{"title":"Prioritizing drugs for future clinical pharmacogenomics studies in Saudi Arabia: a generalizable multi-criteria framework.","authors":"Mustafa Adnan Malki","doi":"10.1080/14622416.2026.2669396","DOIUrl":"10.1080/14622416.2026.2669396","url":null,"abstract":"Aims: Despite over 400 high-evidence drug-gene associations in pharmacogenomic (PGx) guidelines and drug labels, prioritizing drugs for clinical PGx research remains challenging when local outcome data are limited. In Saudi Arabia, PGx studies have primarily focused on variant frequencies rather than drug-specific outcomes. This study aimed to develop a scalable framework to prioritize most frequently prescribed drugs for future clinical PGx investigation in the Saudi population.Patients and methods: We analyzed 2,035 real-world reports of adverse drug reactions (ADRs) or therapeutic inefficacy across 450 drugs. A multi-criteria scoring framework combined six weighted domains reflecting Genetic Plausibility (prior PGx evidence, family history, onset timing) and Clinical Significance (signal volume, issue level, issue rate). Robustness was assessed using sensitivity analyses and external evidence triangulation.Results: ADRs accounted for ~75% of reports and produced the strongest prioritization signals. Top-ranked drugs showed convergence between real-world clinical signals, guideline-supported PGx mechanisms, and previously reported Saudi genetic data. The framework reproduced three clinically relevant drug-gene associations previously reported in Saudi cohorts.Conclusions: This Phase-1 initiative provides a structured, reproducible approach for PGx drug prioritization in Saudi Arabia and a practical roadmap for building locally relevant clinical PGx evidence.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"93-109"},"PeriodicalIF":1.6,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13211317/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147869307","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