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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 : 2025-08-01 Epub 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":"10.1080/17410541.2025.2515003","url":null,"abstract":"<p><strong>Aims: </strong>This study explored employees' understanding of, and psychosocial responses to, workplace genetic testing (wGT) results.</p><p><strong>Materials & methods: </strong>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).</p><p><strong>Results: </strong><i>N</i> = 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 <i>p</i> < 0.05). Open-ended responses indicated difficulty interpreting, recalling, and utilizing results.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"211-221"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144268294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","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 : 2025-08-01 Epub 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":"10.1080/17410541.2025.2515000","url":null,"abstract":"<p><strong>Aims: </strong>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.</p><p><strong>Materials & methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>From this review, we defined precision communication as \"the personalization of communication to subpopulations.\"</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"257-265"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","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
Effect of miRNA gene polymorphisms on prostate cancer susceptibility: a case-control study and an updated meta-analysis. miRNA基因多态性对前列腺癌易感性的影响:一项病例对照研究和最新荟萃分析。
Personalized medicine Pub Date : 2025-08-01 Epub Date: 2025-07-12 DOI: 10.1080/17410541.2025.2530924
Sourabh Sharma, Rahul Gupta, Jyotdeep Kour Raina, Shivalika Loona, Tanishq Kour, Parvinder Kumar, Rakesh Kumar Panjaliya
{"title":"Effect of miRNA gene polymorphisms on prostate cancer susceptibility: a case-control study and an updated meta-analysis.","authors":"Sourabh Sharma, Rahul Gupta, Jyotdeep Kour Raina, Shivalika Loona, Tanishq Kour, Parvinder Kumar, Rakesh Kumar Panjaliya","doi":"10.1080/17410541.2025.2530924","DOIUrl":"10.1080/17410541.2025.2530924","url":null,"abstract":"<p><strong>Background: </strong>Prostate cancer (CaP) is the most commonly diagnosed malignant tumor and the leading cause of cancer-related deaths among men. Due to their potential functional significance, microRNA genes are considered promising candidates for identifying cancer-related genetic biomarkers. This study investigates the association between microRNA-196a2 (rs11614913), microRNA-146a (rs2910164), and microRNA-149 (rs2292832) and the risk of prostate cancer among males in the Jammu region of Jammu and Kashmir (J&K).</p><p><strong>Material and methods: </strong>A total of 320 male participants were recruited from various areas of the Jammu region, including 120 confirmed cases and 200 unrelated healthy controls. Genotyping was performed using PCR-RFLP, and the results were validated through Sanger sequencing. Additionally, a meta-analysis was also conducted to validate the results.</p><p><strong>Results: </strong>Our study found a significant association between microRNA-196a2 and the risk of developing prostate cancer (CaP) in our population, with an odds ratio (OR) of 1.62 and a p-value of 0.05. In contrast, we observed no significant associations for microRNA-146 (rs2910164) and microRNA-149 (rs2292832). Additionally, a meta-analysis of microRNA-146a also confirmed its lack of association with prostate cancer.</p><p><strong>Conclusion: </strong>MicroRNA-196a2 gene polymorphism is linked to a higher risk of prostate cancer (CaP), while microRNA-146 and microRNA-149 did not show an association with CaP.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"235-243"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144621636","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
Enhancing Parkinson's disease prediction using meta-heuristic optimized machine learning models. 利用元启发式优化机器学习模型增强帕金森病预测。
Personalized medicine Pub Date : 2025-08-01 Epub Date: 2025-07-11 DOI: 10.1080/17410541.2025.2532361
Afeez A Soladoye, David B Olawade, Adebimpe O Esan, Nicholas Aderinto, Bolaji A Omodunbi, Ibrahim A Adeyanju, Stergios Boussios
{"title":"Enhancing Parkinson's disease prediction using meta-heuristic optimized machine learning models.","authors":"Afeez A Soladoye, David B Olawade, Adebimpe O Esan, Nicholas Aderinto, Bolaji A Omodunbi, Ibrahim A Adeyanju, Stergios Boussios","doi":"10.1080/17410541.2025.2532361","DOIUrl":"10.1080/17410541.2025.2532361","url":null,"abstract":"<p><p>Parkinson's disease is a progressive neurological disorder affecting movement and cognition. Early detection is crucial but challenging with traditional methods. This study applies meta-heuristic optimization to enhance machine learning prediction models. A Parkinson's dataset with demographic, lifestyle, medical, clinical, and cognitive features was analyzed using three feature selection techniques: Whale Optimization Algorithm, Artificial Bee Colony Optimization, and Backward Elimination (BE). Random Forest (RF) models were optimized using Artificial Ant Colony Optimization for hyperparameter tuning. The optimized RF model with BE achieved 93% accuracy and 97% AUC, outperforming K-Nearest Neighbors, Support Vector Machines, Logistic Regression, XGBoost, and Stacked Ensemble models. Optimization reduced tuning time from 133 to 18 minutes. A comparison with traditional approaches and negative controls validated the results, though clinical validation remains essential before deployment. Meta-heuristic optimization significantly improves Parkinson's prediction performance and efficiency.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"223-234"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144621637","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 : 2025-06-01 Epub 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":"10.1080/17410541.2025.2494982","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"161-170"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","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
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 : 2025-06-01 Epub 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":"10.1080/17410541.2025.2499442","url":null,"abstract":"<p><strong>Aim: </strong>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.</p><p><strong>Materials & methods: </strong>A 5-year retrospective study of a cohort of 255 neonates was included.</p><p><strong>Results: </strong>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<sup>-1</sup>·70 kg<sup>-1</sup> (9.00 %) and 52.09 L·70 kg<sup>-1</sup> (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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"141-149"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","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
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 : 2025-06-01 Epub 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":"10.1080/17410541.2025.2494501","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"171-179"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","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
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 : 2025-06-01 Epub 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":"10.1080/17410541.2025.2494980","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Areas covered: </strong>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.</p><p><strong>Expert opinion/commentary: </strong>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.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"181-191"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","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
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 : 2025-06-01 Epub 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":"10.1080/17410541.2025.2493606","url":null,"abstract":"<p><strong>Aim: </strong>In this study, we aimed to reveal the sequence analysis of 69 pharmacogenes in 635 patients and the clinical explanation of variants.</p><p><strong>Materials and methods: </strong>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.</p><p><strong>Results: </strong>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 <i>DPYD</i>, <i>CYP2C19</i>, <i>VKORC1,UGT1A1</i>, <i>RYR1</i> and <i>MTHFR</i>. These 26 variants with clinical annotation were identified in 327 (51%) different individuals.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"151-160"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","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
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 : 2025-06-01 Epub 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":"10.1080/17410541.2025.2504329","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"193-203"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12213134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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