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Pharmacogenomics education in China and the United States: advancing personalized medicine. 中国和美国的药物基因组学教育：推进个性化医疗。
Personalized medicine Pub Date : 2025-02-01 Epub Date: 2024-12-14 DOI: 10.1080/17410541.2024.2441651
Quanlin Wang, Shusen Sun, Wei Zhang, Dan Cao, Yisu Jin
{"title":"Pharmacogenomics education in China and the United States: advancing personalized medicine.","authors":"Quanlin Wang, Shusen Sun, Wei Zhang, Dan Cao, Yisu Jin","doi":"10.1080/17410541.2024.2441651","DOIUrl":"10.1080/17410541.2024.2441651","url":null,"abstract":"<p><p>Pharmacogenomics (PGx), an integral part of functional genomics and molecular pharmacology, has evolved significantly over the past decade. Our study reveals that PGx education in China and the United States has made substantial progress, with a particular emphasis on integrating PGx into medical curricula and clinical practice, leading to improved therapeutic strategies and patient outcomes. Consequently, both China and the United States are dedicated to fostering advancements in PGx education. This paper reviews PGx education in these two countries, highlighting its importance and providing an in-depth look at the current status and challenges within universities and clinical settings. Furthermore, it offers recommendations for advancing PGx education and contemplates future trends in both nations.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"21-27"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824924","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
Technological advances in clinical individualized medication for cancer therapy: from genes to whole organism. 临床个体化治疗癌症的技术进展：从基因到整个生物体。
Personalized medicine Pub Date : 2025-02-01 Epub Date: 2025-01-07 DOI: 10.1080/17410541.2024.2447224
Jiejing Kai, Xueling Liu, Meijia Wu, Pan Liu, Meihua Lin, Hongyu Yang, Qingwei Zhao
{"title":"Technological advances in clinical individualized medication for cancer therapy: from genes to whole organism.","authors":"Jiejing Kai, Xueling Liu, Meijia Wu, Pan Liu, Meihua Lin, Hongyu Yang, Qingwei Zhao","doi":"10.1080/17410541.2024.2447224","DOIUrl":"10.1080/17410541.2024.2447224","url":null,"abstract":"<p><p>Efforts have been made to leverage technology to accurately identify tumor characteristics and predict how each cancer patient may respond to medications. This involves collecting data from various sources such as genomic data, histological information, functional drug profiling, and drug metabolism using techniques like polymerase chain reaction, sanger sequencing, next-generation sequencing, fluorescence in situ hybridization, immunohistochemistry staining, patient-derived tumor xenograft models, patient-derived organoid models, and therapeutic drug monitoring. The utilization of diverse detection technologies in clinical practice has made \"individualized treatment\" possible, but the desired level of accuracy has not been fully attained yet. Here, we briefly summarize the conventional and state-of-the-art technologies contributing to individualized medication in clinical settings, aiming to explore therapy options enhancing clinical outcomes.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"45-58"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401117","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
A novel TGFβR2 splice variant in patient with aortic aneurysm and family history for aortic dissection: a case report. 主动脉瘤和主动脉夹层家族史患者的新型 TGFβR2 剪接变体：病例报告。
Personalized medicine Pub Date : 2024-04-18 DOI: 10.2217/pme-2023-0135
Cecilia Vecoli, I. Foffa, Simona Vittorini, N. Botto, Augusto Esposito, Sabrina Costa, Valeria Piagneri, P. Festa, L. Ait-Ali
{"title":"A novel TGFβR2 splice variant in patient with aortic aneurysm and family history for aortic dissection: a case report.","authors":"Cecilia Vecoli, I. Foffa, Simona Vittorini, N. Botto, Augusto Esposito, Sabrina Costa, Valeria Piagneri, P. Festa, L. Ait-Ali","doi":"10.2217/pme-2023-0135","DOIUrl":"https://doi.org/10.2217/pme-2023-0135","url":null,"abstract":"We report the clinical presentation and genetic screening of a 31-year-old man with dilatation of the aortic root and ascending aorta and a positive family history for aortic dissection and sudden death. A novel heterozygous variant in a splice acceptor site (c.1600-1G>T) of TGFβR2 gene was identified by using a targeted multi-gene panel analysis. Bioinformatics tools predicted that the c.1600-1G>T variant is pathogenic by altering acceptor splice site at - 1 position affecting pre-mRNA splicing. These data confirm that the diverging splicing in the TGF-β pathway genes may be an important process in aneurismal disease and emphasize the utility of genetic sequencing in the identification of high-risk patients for a more patient's management able to improve outcomes and minimize costs for the care of patients with heritable thoracic aortic aneurysm and dissection.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140687245","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
The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy. 3776 名越南妊娠期临床异常胎儿染色体畸变的遗传情况。
Personalized medicine Pub Date : 2024-04-04 DOI: 10.2217/pme-2023-0113
D. Tran, Minh Ngoc Phan, Hong Thuy Dao, Hong-Dang Luu Nguyen, Duy-Anh Nguyen, Quang-Thanh Le, Diem-Tuyet Thi Hoang, Nhat-Thang Tran, Thi Minh Thi Ha, Thuy Linh Dinh, C. Nguyen, Kim Phuong Thi Doan, Lan-Anh Thi Luong, Ta Son Vo, Thu Huong Nhat Trinh, V. Nguyen, Phuong-Anh Ngoc Vo, Y. Nguyen, My-An Dinh, Phuoc-Loc Doan, T. T. Do, Q. Nguyen, D. Truong, Hoai-Nghia Nguyen, Minh-Duy Phan, Hung-Sang Tang, H. Giang
{"title":"The genetic landscape of chromosomal aberrations in 3776 Vietnamese fetuses with clinical anomalies during pregnancy.","authors":"D. Tran, Minh Ngoc Phan, Hong Thuy Dao, Hong-Dang Luu Nguyen, Duy-Anh Nguyen, Quang-Thanh Le, Diem-Tuyet Thi Hoang, Nhat-Thang Tran, Thi Minh Thi Ha, Thuy Linh Dinh, C. Nguyen, Kim Phuong Thi Doan, Lan-Anh Thi Luong, Ta Son Vo, Thu Huong Nhat Trinh, V. Nguyen, Phuong-Anh Ngoc Vo, Y. Nguyen, My-An Dinh, Phuoc-Loc Doan, T. T. Do, Q. Nguyen, D. Truong, Hoai-Nghia Nguyen, Minh-Duy Phan, Hung-Sang Tang, H. Giang","doi":"10.2217/pme-2023-0113","DOIUrl":"https://doi.org/10.2217/pme-2023-0113","url":null,"abstract":"Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical for clinical application. Aim: This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. Materials & methods: A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. Results: Chromosomal aberrations were found in 448 (11.86%) women. Of these, 274 (7.26%) had chromosomal aneuploidies and 174 (4.61%) carried pathogenic/likely pathogenic CNVs. Correlations were established between chromosomal aberrations and various phenotypic markers. Conclusion: This comprehensive clinical study illuminates the pivotal role of CNV-seq in prenatal diagnosis for pregnancies featuring fetal ultrasound anomalies.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":"76 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140741524","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
Preliminary study of identified novel susceptibility loci for HAPE risk in a Chinese male Han population. 在中国汉族男性人群中初步研究已发现的新的 HAPE 风险易感基因位点。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-06-28 DOI: 10.1080/17410541.2024.2365617
Beibei Zhao, Changchun Liu, Yijin Qi, Tianyi Zhang, Yuhe Wang, Xue He, Li Wang, Tianbo Jin
{"title":"Preliminary study of identified novel susceptibility loci for HAPE risk in a Chinese male Han population.","authors":"Beibei Zhao, Changchun Liu, Yijin Qi, Tianyi Zhang, Yuhe Wang, Xue He, Li Wang, Tianbo Jin","doi":"10.1080/17410541.2024.2365617","DOIUrl":"10.1080/17410541.2024.2365617","url":null,"abstract":"<p><p>High altitude pulmonary edema (HAPE) is a life-threatening form of non-cardiogenic pulmonary edema. In recent years, association studies have become the main method for identifying HAPE genetic loci. A genome-wide association study (GWAS) of HAPE risk-associated loci was performed in Chinese male Han individuals (164 HAPE cases and 189 healthy controls) by the Precision Medicine Diversity Array Chip with 2,771,835 loci (Applied Biosystems Axiom™). Eight overlapping candidate loci in <i>CCNG2</i>, <i>RP11-445O3.2</i>, <i>NUPL1</i> and <i>WWOX</i> were finally selected. <i>In silico</i> functional analyses displayed the PPI network, functional enrichment and signal pathways related to <i>CCNG2</i>, <i>NUPL1</i>, <i>WWOX</i> and <i>NRXN1</i>. This study provides data supplements for HAPE susceptibility gene loci and new insights into HAPE susceptibility.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"227-241"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141474155","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
Incidence of statin-associated muscle symptoms in patients taking statins with RYR1 or CACNA1S variants. 服用他汀类药物并伴有 RYR1 或 CACNA1S 变异的患者中他汀类药物相关肌肉症状的发生率。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-05-09 DOI: 10.1080/17410541.2024.2342223
Natasha J Petry, Amanda Massmann, Megan Bell, April Schultz, Joel Van Heukelom
{"title":"Incidence of statin-associated muscle symptoms in patients taking statins with <i>RYR1</i> or <i>CACNA1S</i> variants.","authors":"Natasha J Petry, Amanda Massmann, Megan Bell, April Schultz, Joel Van Heukelom","doi":"10.1080/17410541.2024.2342223","DOIUrl":"10.1080/17410541.2024.2342223","url":null,"abstract":"<p><p><b>Background:</b> Statins are commonly used medications. Variants in <i>SLCO1B1</i>, <i>CYP2C9</i>, and <i>ABCG2</i> are known predictors of muscle effects when taking statins. More exploratory genes include <i>RYR1</i> and <i>CACNA1S</i>, which can also be associated with disease conditions. <b>Methods:</b> Patients with pathogenic/likely pathogenic variants in <i>RYR1</i> or <i>CACNA1S</i> were identified through an elective genomic testing program. Through chart review, patients with a history of statin use were assessed for statin-associated muscle symptoms (SAMS) along with collection of demographics and other known risk factors for SAMS. <b>Results:</b> Of the 23 patients who had a pathogenic or likely pathogenic <i>RYR1</i> or <i>CACNA1S</i> variant found, 12 had previous statin use; of these, SAMS were identified in four patients. <b>Conclusion:</b> These data contribute to previous literature suggesting patients with <i>RYR1</i> variants may have an increased SAMS risk. Additional research will be helpful in further investigating this relationship and providing recommendations.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"145-150"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140900746","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
Five genes identified as prognostic markers for colorectal cancer through the integration of genome-wide association study and expression quantitative trait loci data. 通过整合全基因组关联研究和表达定量性状位点数据，确定五个基因为结直肠癌的预后标记物。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-02-21 DOI: 10.2217/pme-2023-0103
Cuizhen Zhang, Wenjie Huang, Wanjie Niu, Huiying Yang, Yingyi Zheng, Xuan Gao, Xiaoyan Qiu
{"title":"Five genes identified as prognostic markers for colorectal cancer through the integration of genome-wide association study and expression quantitative trait loci data.","authors":"Cuizhen Zhang, Wenjie Huang, Wanjie Niu, Huiying Yang, Yingyi Zheng, Xuan Gao, Xiaoyan Qiu","doi":"10.2217/pme-2023-0103","DOIUrl":"10.2217/pme-2023-0103","url":null,"abstract":"<p><p><b>Background:</b> Colorectal cancer (CRC) is a prominent form of cancer globally, ranking second in terms of prevalence and serving as a leading cause of cancer-related deaths, but the underlying biological interpretation remains largely unknown. <b>Methods:</b> We used the summary data-based Mendelian randomization method to integrate CRC genome-wide association studies (n<sub>case</sub> = 7062; n<sub>control</sub> = 195,745) and expression quantitative trait <i>loci</i> summary data in peripheral whole blood (Consortium for Architecture of Gene Expression: n = 2765; Genotype-Tissue Expression [v8]: n = 755) and colon tissue (colon-transverse: n = 406; colon-sigmoid: n = 373) and identified related genes. <b>Results:</b> Genes <i>ABTB1</i>, <i>CYP21A2</i>, <i>NLRP1</i>, <i>PHKG1</i> and <i>PIP5K1C</i> have emerged as significant prognostic markers for CRC patient survival. Functional analysis revealed their involvement in cancer cell migration and invasion mechanisms, providing valuable insights for the development of future anti-CRC drugs. <b>Conclusion:</b> We successfully identified five CRC risk genes, providing new insights and research directions for the effective mechanisms of CRC.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"103-116"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139914372","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
Helping patients understand multi-cancer early detection tests: a scoping review. 帮助患者了解多种癌症早期检测试验：范围界定综述。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-01-25 DOI: 10.2217/pme-2023-0090
Martha Paige Greene, Jason L Vassy
{"title":"Helping patients understand multi-cancer early detection tests: a scoping review.","authors":"Martha Paige Greene, Jason L Vassy","doi":"10.2217/pme-2023-0090","DOIUrl":"10.2217/pme-2023-0090","url":null,"abstract":"<p><p>Multi-cancer early detection tests are emerging as a revolutionary technology for the early detection of dozens of cancers from a single blood sample, including cancers without proven screening methods. However, they also come with challenges, including false-positive and false-negative results. To help patients make informed decisions, patient education materials are crucial. A review of available materials reveals that, while some materials provide understandable and actionable information, most lack a balanced presentation of the current benefits and risks of multi-cancer early detection testing. The dynamic nature of this field necessitates continuous updates to educational materials, incorporating current evidence and uncertainties.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"131-137"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139547891","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
Looking back over 2023 and welcome to the 21st issue of Personalized Medicine. 回顾 2023 年，欢迎阅读第 21 期《个性化医学》。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2023-12-20 DOI: 10.2217/pme-2023-0147
Sarah Jones
{"title":"Looking back over 2023 and welcome to the 21<sup>st</sup> issue of <i>Personalized Medicine</i>.","authors":"Sarah Jones","doi":"10.2217/pme-2023-0147","DOIUrl":"10.2217/pme-2023-0147","url":null,"abstract":"","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138816079","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
Gene detection of VDR BsmI locus and its approteins, genes and growthplication in rational drug use in patients with osteoporosis. VDR BsmI 位点的基因检测及其在骨质疏松症患者合理用药中的作用。
Personalized medicine Pub Date : 2024-01-01 Epub Date: 2024-06-21 DOI: 10.1080/17410541.2024.2366152
Yu Huang, Nan Qiu, Yunna Wang, Wanjun Ouyang, Miao Liang
{"title":"Gene detection of VDR BsmI locus and its approteins, genes and growthplication in rational drug use in patients with osteoporosis.","authors":"Yu Huang, Nan Qiu, Yunna Wang, Wanjun Ouyang, Miao Liang","doi":"10.1080/17410541.2024.2366152","DOIUrl":"10.1080/17410541.2024.2366152","url":null,"abstract":"<p><p><b>Aim:</b> This paper determines the polymorphism distribution of the <i>VDR BsmI</i> gene in 350 patients and provides medication recommendations for osteoporosis based on detection results. <b>Materials & methods:</b> Chi-square tests compared genotype and allele frequencies with other populations. <b>Results:</b> Genotype frequencies were 91.66 bb, 8.72 Bb and 0.21% BB, with allelic frequencies of 95.43 b and 4.57% B, adhering to Hardy-Weinberg equilibrium. These findings suggest that <i>VDR</i> gene polymorphisms, particularly at the BsmIlocus, play an essential role in bone health and osteoporosis treatment. Genotype-based drug selection reduced adverse reactions from 14 to two cases. <b>Conclusion:</b> These findings improve clinical treatment efficacy and guide rational drug use for osteoporosis patients.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"219-225"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141433679","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
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