Personalized medicine最新文献

Perceived understanding and psychosocial outcomes: employees' responses to learning results of workplace genetic testing. 感知理解与心理社会结果：员工对职场基因检测学习结果的反应。

Personalized medicine Pub Date : 2025-06-11 DOI: 10.1080/17410541.2025.2515003

Elizabeth Charnysh, Sarah McCain, Alexandra Truhlar, Subhamoy Pal, Jonathan M Reader, Kunal Sanghavi, Wendy R Uhlmann, Katherine Hendy, Amy Leader, Drew Blasco, Anya E R Prince, William Gregory Feero, Rachael Brandt, Veda N Giri, Charles Lee, J Scott Roberts

{"title":"Perceived understanding and psychosocial outcomes: employees' responses to learning results of workplace genetic testing.","authors":"Elizabeth Charnysh, Sarah McCain, Alexandra Truhlar, Subhamoy Pal, Jonathan M Reader, Kunal Sanghavi, Wendy R Uhlmann, Katherine Hendy, Amy Leader, Drew Blasco, Anya E R Prince, William Gregory Feero, Rachael Brandt, Veda N Giri, Charles Lee, J Scott Roberts","doi":"10.1080/17410541.2025.2515003","DOIUrl":"https://doi.org/10.1080/17410541.2025.2515003","url":null,"abstract":"Aims: This study explored employees' understanding of, and psychosocial responses to, workplace genetic testing (wGT) results.Materials & methods: Employees of a US healthcare system who underwent wGT (hereditary cancer/heart disease risk, pharmacogenomics) and received results were surveyed. We ascertained pretest education engagement, test understanding, and psychosocial responses. Regression analyses identified predictors of scores on a modified Feelings About genomiC Test Results questionnaire (positive feelings, negative emotions, and uncertainty after wGT).Results: N = 418 employees (mean age = 44 years; 88.3% female; 80.6% white) completed the survey. Mean scores (out of 12; higher scores indicate a greater extent of each feeling) were 5.2 (SD = 2.9) for positive feelings, 1.2 (SD = 2.2) for negative emotions, and 2.0 (SD = 2.5) for uncertainty. Identifying as non-Hispanic African American/Black and receiving increased risk (cancer/heart disease) wGT results were associated with lower positive feelings and higher negative emotions and uncertainty scores (all p < 0.05). Open-ended responses indicated difficulty interpreting, recalling, and utilizing results.Conclusions: wGT was associated with low levels of measured psychosocial harm among participants. However, results suggested a greater likelihood of negative psychosocial responses among those with increased risk of cancer/heart disease and non-Hispanic African American/Black employees. Future studies should explore strategies to ensure all employees undergoing wGT have educational and psychosocial support.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144268294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Regional disparities in access to gene therapies in the European Union, the United States, Japan, and China. 欧盟、美国、日本和中国在获得基因治疗方面的地区差异。

Personalized medicine Pub Date : 2025-06-05 DOI: 10.1080/17410541.2025.2515002

Riya Mohan, Margaux Reckelbus, Pascal Borry

{"title":"Regional disparities in access to gene therapies in the European Union, the United States, Japan, and China.","authors":"Riya Mohan, Margaux Reckelbus, Pascal Borry","doi":"10.1080/17410541.2025.2515002","DOIUrl":"https://doi.org/10.1080/17410541.2025.2515002","url":null,"abstract":"Understanding the regional differences in approved gene therapies, clinical trial development, and regulatory frameworks is crucial for ensuring equitable access and addressing justice issues in advanced therapeutics. This review aimed to evaluate the differences between the US, the EU, Japan, and China and offer policy recommendations to promote harmonization between these countries and regions. Gene therapy approvals show significant regional disparities, with the US leading with 23 approved therapies, followed by the EU with 16. Few products are accessible worldwide reflecting challenges in obtaining cross-border approvals. Moreover, access is uneven within regions like the EU, with high-income countries having better accessibility. High costs and complex reimbursement processes exacerbate these issues, with some products being withdrawn from the market due to pricing disputes. Regulatory differences, such as differing data needs, further delay access in countries, like Japan, where gene therapy products are unavailable until years after a product is ready for approval. Clinical trial activity mirrors these disparities, with China's growing number of trials potentially reshaping the landscape. Harmonizing regulations across regions could streamline the approval process for therapies, making them more efficient and reducing disparities. Furthermore, key solutions include incentivizing cost reductions, adopting innovative payment models, and aligning evidence/reimbursement requirements.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clarifying a working definition for 'precision communication': a scoping review of medical literature on communication. 澄清“精确通信”的工作定义：对通信医学文献的范围审查。

Personalized medicine Pub Date : 2025-06-05 DOI: 10.1080/17410541.2025.2515000

Bao-Lam Pham, Brigitte N Durieux, Amanda Bianco, Corinne Cécyre-Chartrand, Elena Guadagno, Amalia M Issa, Dan Poenaru

{"title":"Clarifying a working definition for 'precision communication': a scoping review of medical literature on communication.","authors":"Bao-Lam Pham, Brigitte N Durieux, Amanda Bianco, Corinne Cécyre-Chartrand, Elena Guadagno, Amalia M Issa, Dan Poenaru","doi":"10.1080/17410541.2025.2515000","DOIUrl":"https://doi.org/10.1080/17410541.2025.2515000","url":null,"abstract":"Aims: While \"tailored communication\" and \"precision medicine\" have been well-defined in medical literature, the concept of \"precision communication\" in healthcare has yet to be clarified. We sought to review how \"precision communication\" has been used in the medical literature to date and propose a working definition for this term.Materials & methods: We searched seven medical literature databases from inception until 22 May 2024, for articles using terms related to \"precision communication.\" Multiple reviewers screened titles/abstracts and full-texts; an initial pool of full-text articles underwent thematic analysis to clarify relevant themes for inclusion. Data regarding the use of the term \"precision communication\" were manually charted and analyzed descriptively.Results: Of the 7,648 articles identified, 21 full-text articles were included in the final descriptive analysis. These articles highlighted the personalization of tailored communication to patient characteristics, its impact on clinical outcomes, and the recipients of \"precision communication.\" The latter may distinguish \"precision communication\" from similar terms: where \"tailored communication\" was mostly applied to undefined groups, we propose that \"precision communication\" is precise toward specific patient subpopulations, paralleling the use of genomics in precision medicine.Conclusions: From this review, we defined precision communication as \"the personalization of communication to subpopulations.\"","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144228101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Bridging the United States population diversity gaps in clinical research: roadmap to precision health and reducing health disparities. 弥合美国临床研究中的人口多样性差距：精确健康路线图和减少健康差距。

Personalized medicine Pub Date : 2025-05-13 DOI: 10.1080/17410541.2025.2504329

Youssef Roman

{"title":"Bridging the United States population diversity gaps in clinical research: roadmap to precision health and reducing health disparities.","authors":"Youssef Roman","doi":"10.1080/17410541.2025.2504329","DOIUrl":"https://doi.org/10.1080/17410541.2025.2504329","url":null,"abstract":"Precision medicine promises improved health outcomes by tailoring treatments to individual genetic and environmental factors. However, achieving this potential is hindered by persistent health disparities and the underrepresentation of racially and ethnically diverse populations in clinical trials. Limited diversity in research exacerbates health inequities, reducing the generalizability of findings and widening gaps in access to effective treatments. This review outlines a multi-faceted strategy to bridge diversity gaps in clinical trials, focusing on community engagement, clinical pharmacology, and regulatory science. Key approaches include decentralized trials, targeted recruitment, advanced data modeling, and comprehensive integration of genetic and social determinants of health data. Regulatory frameworks, such as diversity action plans, play a crucial role in ensuring equitable access to precision health innovations. Increasing representation in research enhances the reliability of clinical data and fosters health equity by addressing differences in disease prevalence, treatment responses, and healthcare access. By leveraging technological advancements and inclusive research methodologies, this framework aims to transform clinical trials into a roadmap for equitable healthcare. Ensuring diverse participation in research is essential for the successful implementation of precision medicine and realizing the full potential of precision health, ultimately reducing health disparities and promoting fair access to medical advancements across all populations.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Precision acute medical care through "-omic" analyses: a scoping review. 通过“基因组学”分析的精准急性医疗护理：范围综述。

Personalized medicine Pub Date : 2025-05-12 DOI: 10.1080/17410541.2025.2499438

Cole Ettingoff, Megan Von Isenburg, Drew Birrenkott, Hirotaka Ata, Chris Kabrhel, Basmah Safdar, Kohei Hasegawa, Andrew Monte, Frederick Fred Korley, Cosby Gabrielle Arnold, Laura Heitsch, Matthew Strehlow, Alexander T Limkakeng

{"title":"Precision acute medical care through \"-omic\" analyses: a scoping review.","authors":"Cole Ettingoff, Megan Von Isenburg, Drew Birrenkott, Hirotaka Ata, Chris Kabrhel, Basmah Safdar, Kohei Hasegawa, Andrew Monte, Frederick Fred Korley, Cosby Gabrielle Arnold, Laura Heitsch, Matthew Strehlow, Alexander T Limkakeng","doi":"10.1080/17410541.2025.2499438","DOIUrl":"https://doi.org/10.1080/17410541.2025.2499438","url":null,"abstract":"Background: -Omics technologies - including genomics, transcriptomics, proteomics, and metabolomics - are increasingly used in acute care settings. However, the current extent of this research has not been systematically assessed.Objectives: To characterize how -omics analyses are applied to acute medical conditions and identify trends, gaps, and implementation barriers.Methods: Eligible studies included human subjects with acute conditions and used -omics biosample analyses for diagnostic, prognostic, or predictive purposes. Feedback from the SAEM Precision Emergency Medicine Consensus Conference informed the search and inclusion criteria. Studies of infectious diseases were excluded for separate analysis.Results: Of 7,531 screened articles, 421 met inclusion criteria. Most were observational cohort studies, with single nucleotide polymorphism analysis being most common. Cardiovascular and trauma-related conditions were frequently studied. Only 12.4% of studies included children, and just 7 focused exclusively on older adults. One-third were conducted outside of emergency departments. Many studies addressed diverse, uncategorized acute conditions.Conclusions: While -omics research in acute care is growing, it remains predominantly observational with limited clinical implementation. Barriers include delayed turnaround times, insufficient EHR integration, and underrepresentation of vulnerable populations. Advancing this field requires cross-disciplinary collaboration, focused research priorities, and investment in implementation studies.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144048862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Vancomycin individual dosing regimens via Bayesian simulation: a 5-year retrospective study on preterm and term neonates. 通过贝叶斯模拟万古霉素个体给药方案：对早产儿和足月新生儿的5年回顾性研究。

Personalized medicine Pub Date : 2025-04-30 DOI: 10.1080/17410541.2025.2499442

Lu Tan, Ailing Chao, Heng Liang, Qian Liu, Minzhen Han, Yanping Guan

{"title":"Vancomycin individual dosing regimens via Bayesian simulation: a 5-year retrospective study on preterm and term neonates.","authors":"Lu Tan, Ailing Chao, Heng Liang, Qian Liu, Minzhen Han, Yanping Guan","doi":"10.1080/17410541.2025.2499442","DOIUrl":"https://doi.org/10.1080/17410541.2025.2499442","url":null,"abstract":"Aim: Vancomycin dosing in neonates is challenging due to developmental pharmacokinetic variability. The study was to characterize vancomycin pharmacokinetics in a large cohort of preterm and term neonates and develop individualized dosing regimens.Materials & methods: A 5-year retrospective study of a cohort of 255 neonates was included.Results: An allometric one-compartment model with first-order elimination best described the vancomycin concentrations. The population pharmacokinetic estimates (between subject variability) of clearance (CL) and volume of distribution (V) were 2.58 L·h-1·70 kg-1 (9.00 %) and 52.09 L·70 kg-1 (29.00%), respectively. CL and V were significantly influenced by body weight and postmenstrual age. Vancomycin CL reached 50% of adult values at 43.6 weeks PMA (a sigmoid Emax model). Renal maturation, estimated by creatinine production rate, was a significant covariate. Bayesian-guided individualized dosage regimens were developed and evaluated.Conclusions: Vancomycin overdosage should be avoided in very young premature babies (PMA = 25 weeks). Optimization of efficacy while minimizing toxicity of vancomycin in preterm and term neonates is needed, especially guided by personalized body weight, postmenstrual age, and renal function.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Global harmonization in advanced therapeutics: balancing innovation, safety, and access. 先进疗法的全球协调：平衡创新、安全性和可及性。

Personalized medicine Pub Date : 2025-04-25 DOI: 10.1080/17410541.2025.2494980

Ankit Dahiya, Kartikey Singh, Anunav Ashish, Nipun, Aayush Bhadyaria, Shubham Thakur, Manish Kumar, Ghanshyam Das Gupta, Balak Das Kurmi, Ravi Raj Pal

{"title":"Global harmonization in advanced therapeutics: balancing innovation, safety, and access.","authors":"Ankit Dahiya, Kartikey Singh, Anunav Ashish, Nipun, Aayush Bhadyaria, Shubham Thakur, Manish Kumar, Ghanshyam Das Gupta, Balak Das Kurmi, Ravi Raj Pal","doi":"10.1080/17410541.2025.2494980","DOIUrl":"https://doi.org/10.1080/17410541.2025.2494980","url":null,"abstract":"Introduction: Advanced Therapy Medicinal Products (ATMPs), which include gene therapies, somatic cell therapies, and tissue-engineered products, are a new paradigm for treating previously intractable diseases. Their regenerative and personalized approach makes them, unlike conventional treatments, require changing regulatory systems to adjust to their intricacies.Areas covered: This review gives a comprehensive critique of international regulatory programs that include the FDA's RMAT designation, EMA's PRIME program, and Japan's Sakigake program intended to bring ATMPs to patients faster while ensuring patient safety. It also considers innovation-led strategies like adaptive licensing, rolling reviews, and real-world evidence (RWE) led decision-making for pre-market authorization and post-market monitoring. In addition, it discusses problems like regulatory divergence, intricate manufacturing standards, price constraints, and the transformative role of digital technologies such as artificial intelligence and blockchain in traceability and regulatory compliance. Patient-centric models and early access schemes are also extensively debated as part and parcel of the future of regulatory science.Expert opinion/commentary: To achieve the maximum potential of ATMPs across the world, regulatory systems need to be harmonized and responsive, involving real-time data analysis, flexible approval processes, and improved stakeholder cooperation. New technologies, coupled with more patient engagement and global convergence efforts, are crucial for providing equal access to effective and safe advanced therapies.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144060041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genomics and the early diagnosis of lung cancer. 基因组学和肺癌的早期诊断。

Personalized medicine Pub Date : 2025-04-21 DOI: 10.1080/17410541.2025.2494982

Francesco Pepe, Tancredi Didier Bazan Russo, Valerio Gristina, Andrea Gottardo, Giulia Busuito, Giuliana Iannì, Gianluca Russo, Claudia Scimone, Lucia Palumbo, Lorena Incorvaia, Giuseppe Badalamenti, Antonio Galvano, Viviana Bazan, Antonio Russo, Giancarlo Troncone, Umberto Malapelle

{"title":"Genomics and the early diagnosis of lung cancer.","authors":"Francesco Pepe, Tancredi Didier Bazan Russo, Valerio Gristina, Andrea Gottardo, Giulia Busuito, Giuliana Iannì, Gianluca Russo, Claudia Scimone, Lucia Palumbo, Lorena Incorvaia, Giuseppe Badalamenti, Antonio Galvano, Viviana Bazan, Antonio Russo, Giancarlo Troncone, Umberto Malapelle","doi":"10.1080/17410541.2025.2494982","DOIUrl":"https://doi.org/10.1080/17410541.2025.2494982","url":null,"abstract":"Lung cancer (LC) remains the leading cause of cancer-related mortality worldwide, with most cases diagnosed at advanced stages, resulting in poor survival rates. Early detection significantly improves outcomes, yet current screening methods, such as low-dose computed tomography (LDCT), are limited by high false-positive rates, radiation exposure, and restricted eligibility criteria. This review highlights the transformative potential of genomic and molecular technologies in advancing the early detection of LC. Key innovations include liquid biopsy tools, such as circulating tumor DNA (ctDNA) and cell-free DNA (cfDNA) analysis, which offer minimally invasive approaches to detect tumor-specific genetic and epigenetic alterations. Emerging biomarkers, including methylation signatures, cfDNA fragmentomics, and multi-omics profiles, demonstrate improved sensitivity and specificity in identifying early-stage tumors. Advanced platforms like next-generation sequencing (NGS) and machine-learning algorithms further enhance diagnostic accuracy. Integrated approaches that combine genomic data with LDCT imaging and artificial intelligence (AI) show promise in addressing current limitations by improving risk stratification and nodule characterization. The review also explores multi-cancer early detection assays and precision diagnostic strategies tailored for diverse at-risk populations. By leveraging these advancements, clinicians can achieve earlier diagnoses, reduce unnecessary procedures, and ultimately decrease LC mortality.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144002264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Artificial intelligence: its potential in personalized public health strategies and genetic data analysis: a narrative review. 人工智能：其在个性化公共卫生战略和基因数据分析方面的潜力：叙述性回顾。

Personalized medicine Pub Date : 2025-04-21 DOI: 10.1080/17410541.2025.2494501

Gülcan Demir, Zeynep Yegin

{"title":"Artificial intelligence: its potential in personalized public health strategies and genetic data analysis: a narrative review.","authors":"Gülcan Demir, Zeynep Yegin","doi":"10.1080/17410541.2025.2494501","DOIUrl":"https://doi.org/10.1080/17410541.2025.2494501","url":null,"abstract":"This review comprehensively evaluates personalized public health strategies using artificial intelligence (AI) in disease prediction/management and genetic data analysis. In the field of healthcare, AI has achieved significant advancements in the analysis of public health and genetic data. Its applications in public health include predicting the spread of infectious diseases, evaluating individual risk factors, and optimizing resource management. In the realm of genetic data, AI offers groundbreaking contributions such as identifying disease risk factors, analyzing genetic mutations, and developing personalized treatment plans. In this review, we evaluated the importance of AI in preventive medicine in a structured way and by including concrete application examples. Ethical and legal responsibilities must be considered due to the significant implications of AI-generated decisions. By integrating AI into public health and genetics, we are poised to unlock unprecedented opportunities for advancing human health. This approach not only enhances our ability to understand and address complex health challenges but also paves the way for equitable, effective, and individualized care solutions on a global scale. In this review, we addressed to the interactions between particular subdomains of personalized public health strategies and AI with most recent literature and legal/ethical perspective.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pharmacogenomic analysis and clinical annotation of 635 patients. 635例患者的药物基因组学分析及临床注释。

Personalized medicine Pub Date : 2025-04-17 DOI: 10.1080/17410541.2025.2493606

Özkan Bağcı, Batuhan Şanlıtürk, Ebru Marzioğlu Özdemir, Nadir Koçak, Tülin Cora

{"title":"Pharmacogenomic analysis and clinical annotation of 635 patients.","authors":"Özkan Bağcı, Batuhan Şanlıtürk, Ebru Marzioğlu Özdemir, Nadir Koçak, Tülin Cora","doi":"10.1080/17410541.2025.2493606","DOIUrl":"https://doi.org/10.1080/17410541.2025.2493606","url":null,"abstract":"Aim: In this study, we aimed to reveal the sequence analysis of 69 pharmacogenes in 635 patients and the clinical explanation of variants.Materials and methods: Genomic DNA was isolated from peripheral blood of patients. Next-Generation Sequence analysis and bioinformatic analysis were performed to identify 69 pharmacogene variants. Variants with clinical annotation were identified.Results: Analysis of 69 pharmacogenes in a total of 635 patients identified 9485 variants. The number of distinct variants identified in each gene was 1409. Of these 1409 variants, the number of variants registered in PharmGKB was 126. Among the 126 variants registered in PharmGKB, 26 variants were identified that had a direct association with clinical annotation and drug efficacy or toxicity. The most common variant genes were DPYD, CYP2C19, VKORC1,UGT1A1, RYR1 and MTHFR. These 26 variants with clinical annotation were identified in 327 (51%) different individuals.Conclusions: Such a high frequency of critical variants (51%) points to the need for pharmacogenetic studies. The results are extremely important in terms of determining the drug dose according to the genomic status of individuals receiving drug therapy and preventing unnecessary health expenditures.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144061486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0