发布求助
文献互助 智能选刊 最新文献

Personalized medicine最新文献

筛选
英文 中文
Developing and validating noninvasive prenatal testing for de novo autosomal dominant monogenic diseases in Vietnam. 开发和验证越南新发常染色体显性单基因疾病的无创产前检测。
IF 2.3 4区 医学
Personalized medicine Pub Date : 2023-09-01 Epub Date: 2023-08-25 DOI: 10.2217/pme-2023-0076
Nhi Yen Nguyen, Y-Thanh Lu, Duy-Anh Nguyen, Canh-Chuong Nguyen, Linh Thuy Dinh, Minh-Thu Thi Tran, Danh-Cuong Tran, Lan-Anh Thi Luong, Kim-Phuong Doan, Vu Quoc Huy Nguyen, Thi Minh Thi Ha, Linh-Giang Thi Truong, Nhat-Thang Tran, Phuong Thi-Mai Cao, Vy Thi-Nhat Tran, Thu Huong Nhut Trinh, Quang Thanh Le, Van Thong Nguyen, Diem-Tuyet Thi Hoang, Son Ta Vo, My-Nhi Ba Nguyen, Chi-Thuong Bui, Son-Tra Thi Tran, Duc-Tam Lam, Hong-Thinh Le, My-Ngoc Ba Nguyen, Viet-Thang Ho, Minh-Trung Nguyen, Phuoc-Loc Doan, Kim-Van Thi Tran, Huyen-Trang Thi Tran, Uyen Vu Tran, An My Dinh, Thanh-Thanh Thi Nguyen, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Minh-Duy Phan, Hoai-Nghia Nguyen, Hung-Sang Tang, Hoa Giang
{"title":"Developing and validating noninvasive prenatal testing for <i>de novo</i> autosomal dominant monogenic diseases in Vietnam.","authors":"Nhi Yen Nguyen,&nbsp;Y-Thanh Lu,&nbsp;Duy-Anh Nguyen,&nbsp;Canh-Chuong Nguyen,&nbsp;Linh Thuy Dinh,&nbsp;Minh-Thu Thi Tran,&nbsp;Danh-Cuong Tran,&nbsp;Lan-Anh Thi Luong,&nbsp;Kim-Phuong Doan,&nbsp;Vu Quoc Huy Nguyen,&nbsp;Thi Minh Thi Ha,&nbsp;Linh-Giang Thi Truong,&nbsp;Nhat-Thang Tran,&nbsp;Phuong Thi-Mai Cao,&nbsp;Vy Thi-Nhat Tran,&nbsp;Thu Huong Nhut Trinh,&nbsp;Quang Thanh Le,&nbsp;Van Thong Nguyen,&nbsp;Diem-Tuyet Thi Hoang,&nbsp;Son Ta Vo,&nbsp;My-Nhi Ba Nguyen,&nbsp;Chi-Thuong Bui,&nbsp;Son-Tra Thi Tran,&nbsp;Duc-Tam Lam,&nbsp;Hong-Thinh Le,&nbsp;My-Ngoc Ba Nguyen,&nbsp;Viet-Thang Ho,&nbsp;Minh-Trung Nguyen,&nbsp;Phuoc-Loc Doan,&nbsp;Kim-Van Thi Tran,&nbsp;Huyen-Trang Thi Tran,&nbsp;Uyen Vu Tran,&nbsp;An My Dinh,&nbsp;Thanh-Thanh Thi Nguyen,&nbsp;Thanh-Thuy Thi Do,&nbsp;Dinh-Kiet Truong,&nbsp;Minh-Duy Phan,&nbsp;Hoai-Nghia Nguyen,&nbsp;Hung-Sang Tang,&nbsp;Hoa Giang","doi":"10.2217/pme-2023-0076","DOIUrl":"10.2217/pme-2023-0076","url":null,"abstract":"<p><p><b>Background:</b> Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions. <b>Methods:</b> NIPT-SGG with a 30-gene panel applied next-generation sequencing and trio assays to confirm <i>de novo</i> variants. Diagnostic tests confirmed NIPT-detected cases. <b>Results:</b> Among 93 pregnancies with ultrasound findings, 11 (11.8%) fetuses were screened and diagnosed with monogenic diseases, mostly with Noonan syndrome. NIPT-SGG determined >99.99% of actual positive and negative cases, confirmed by diagnostic tests. No false-negatives or false-positives were reported. <b>Conclusion:</b> NIPT-SGG effectively identifies the fetuses affected with monogenic diseases, which is a promisingly safe and timely antenatal screening option for high-risk pregnancies.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":"425-433"},"PeriodicalIF":2.3,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10444490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Challenges and opportunities in building a health economic framework for personalized medicine in oncology. 建立肿瘤学个性化医学的健康经济框架的挑战和机遇。
IF 2.3 4区 医学
Personalized medicine Pub Date : 2023-09-01 Epub Date: 2023-08-21 DOI: 10.2217/pme-2022-0008
Pedro Nazareth Aguiar, Silvio Matsas, Rodrigo Dienstmann, Carlos Gil Ferreira
{"title":"Challenges and opportunities in building a health economic framework for personalized medicine in oncology.","authors":"Pedro Nazareth Aguiar,&nbsp;Silvio Matsas,&nbsp;Rodrigo Dienstmann,&nbsp;Carlos Gil Ferreira","doi":"10.2217/pme-2022-0008","DOIUrl":"10.2217/pme-2022-0008","url":null,"abstract":"<p><p>Personalized medicine has allowed for knowledge at an individual level for several diseases and this has led to improvements in prevention and treatment of various types of neoplasms. Despite the greater availability of tests, the costs of genomic testing and targeted therapies are still high for most patients, especially in low- and middle-income countries. Although value frameworks and health technology assessment are fundamental to allow decision-making by policymakers, there are several concerns in terms of personalized medicine pharmacoeconomics. A global effort may improve these tools in order to allow access to personalized medicine for an increasing number of patients with cancer.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":"453-460"},"PeriodicalIF":2.3,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10032453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lessons learned from the application of the HEcoPerMed guidance to three modeling case studies. HEcoPerMed指南在三个建模案例研究中的应用经验教训。
IF 2.3 4区 医学
Personalized medicine Pub Date : 2023-07-01 Epub Date: 2023-09-11 DOI: 10.2217/pme-2023-0040
Balázs Nagy, Tamás Zelei, Heleen Vellekoop, Simone Huygens, Matthijs Versteegh, Maureen Rutten-van Mölken, Rositsa Koleva-Kolarova, Apostolos Tsiachristas, Sarah Wordsworth, László Szilberhorn
{"title":"Lessons learned from the application of the HEcoPerMed guidance to three modeling case studies.","authors":"Balázs Nagy,&nbsp;Tamás Zelei,&nbsp;Heleen Vellekoop,&nbsp;Simone Huygens,&nbsp;Matthijs Versteegh,&nbsp;Maureen Rutten-van Mölken,&nbsp;Rositsa Koleva-Kolarova,&nbsp;Apostolos Tsiachristas,&nbsp;Sarah Wordsworth,&nbsp;László Szilberhorn","doi":"10.2217/pme-2023-0040","DOIUrl":"10.2217/pme-2023-0040","url":null,"abstract":"<p><p><b>Background:</b> The HEcoPerMed consortium developed a methodological guidance for the harmonization and improvement of economic evaluations in personalized medicine. <b>Materials & methods:</b> In three therapeutic areas, health economic models were developed to scrutinize the recommendations of the guidance. <b>Results:</b> Altogether, 20 of the 23 recommendations of the guidance were addressed by the models. Seven recommendations were applied in all studies, six in two of the studies and seven in one of the studies. Recommendations with an essential role on the final conclusions of the analyses were identified in each study. <b>Conclusion:</b> The guidance was found to be best used as a tool to identify and prioritize issues, verify solutions and justify decisions during the economic analysis of personalized interventions.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":"401-411"},"PeriodicalIF":2.3,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10200334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Cost-effectiveness and budget impact analysis of screening strategies for maturity-onset diabetes of the young in three European countries. 三个欧洲国家年轻人成熟期糖尿病筛查策略的成本效益和预算影响分析。
IF 2.3 4区 医学
Personalized medicine Pub Date : 2023-07-01 Epub Date: 2023-09-04 DOI: 10.2217/pme-2023-0017
László Szilberhorn, Tamás Zelei, Heleen Vellekoop, Simone Huygens, Matthijs Versteegh, Maureen Rutten-van Mölken, Rositsa Koleva-Kolarova, Apostolos Tsiachristas, Sarah Wordsworth, Balázs Nagy
{"title":"Cost-effectiveness and budget impact analysis of screening strategies for maturity-onset diabetes of the young in three European countries.","authors":"László Szilberhorn,&nbsp;Tamás Zelei,&nbsp;Heleen Vellekoop,&nbsp;Simone Huygens,&nbsp;Matthijs Versteegh,&nbsp;Maureen Rutten-van Mölken,&nbsp;Rositsa Koleva-Kolarova,&nbsp;Apostolos Tsiachristas,&nbsp;Sarah Wordsworth,&nbsp;Balázs Nagy","doi":"10.2217/pme-2023-0017","DOIUrl":"10.2217/pme-2023-0017","url":null,"abstract":"<p><p><b>Background:</b> Correct diagnosis of maturity-onset diabetes of the young (MODY), which is often misdiagnosed as Type 1 or 2 diabetes, is important for providing appropriate treatment. <b>Materials & Methods:</b> A diabetes model was adapted to Hungary, the Netherlands, and the UK to analyse the cost-effectiveness and budget impact of different screening strategies for MODY with 20 years time horizon. <b>Results:</b> Compared with no screening, screening with the MODY calculator then genetic testing is considered cost-effective with respect to each country's willingness to pay threshold. The addition of autoantibody testing dominated the no screening strategy. The budget impact of the strategies ranges between 0.001 and 0.025% of annual public healthcare spending. <b>Conclusion:</b> The analysed strategies are considered good value for money with potential cost savings in the long term.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":"387-399"},"PeriodicalIF":2.3,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10519917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Cost-effectiveness of extended DPYD testing before fluoropyrimidine chemotherapy in metastatic breast cancer in the UK. 英国癌症转移性乳腺癌氟嘧啶化疗前延长DPYD试验的成本效益。
IF 2.3 4区 医学
Personalized medicine Pub Date : 2023-07-01 Epub Date: 2023-09-04 DOI: 10.2217/pme-2022-0099
Rositsa Koleva-Kolarova, Heleen Vellekoop, Simone Huygens, Matthijs Versteegh, Maureen Rutten-van Mölken, László Szilberhorn, Tamás Zelei, Balázs Nagy, Sarah Wordsworth, Apostolos Tsiachristas
{"title":"Cost-effectiveness of extended <i>DPYD</i> testing before fluoropyrimidine chemotherapy in metastatic breast cancer in the UK.","authors":"Rositsa Koleva-Kolarova,&nbsp;Heleen Vellekoop,&nbsp;Simone Huygens,&nbsp;Matthijs Versteegh,&nbsp;Maureen Rutten-van Mölken,&nbsp;László Szilberhorn,&nbsp;Tamás Zelei,&nbsp;Balázs Nagy,&nbsp;Sarah Wordsworth,&nbsp;Apostolos Tsiachristas","doi":"10.2217/pme-2022-0099","DOIUrl":"10.2217/pme-2022-0099","url":null,"abstract":"<p><p>The aim of this study was to evaluate the cost-effectiveness of ToxNav<sup>©</sup>, a multivariant genetic test, to screen for <i>DPYD</i> followed by personalized chemotherapy dosing for metastatic breast cancer in the UK compared with no testing followed by standard dose, standard of care. In the main analysis, ToxNav was dominant over standard of care, producing 0.19 additional quality-adjusted life years and savings of £78,000 per patient over a lifetime. The mean additional quality-adjusted life years per person from 1000 simulations was 0.23 savings (95% CI: 0.22-0.24) at £99,000 (95% CI: £95-102,000). Varying input parameters independently by range of 20% was unlikely to change the results in the main analysis. The probabilistic sensitivity analysis showed ~97% probability of the ToxNav strategy to be dominant.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":"339-355"},"PeriodicalIF":2.3,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10137900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Financial incentives to promote personalized medicine in Europe: an overview and guidance for implementation. 欧洲促进个性化医疗的财政激励措施：概述和实施指南。
IF 2.3 4区 医学
Personalized medicine Pub Date : 2023-07-01 Epub Date: 2023-08-25 DOI: 10.2217/pme-2022-0145
Rositsa Koleva-Kolarova, László Szilberhorn, Tamás Zelei, Heleen Vellekoop, Balázs Nagy, Simone Huygens, Matthijs Versteegh, Maureen Rutten-van Mölken, Sarah Wordsworth, Apostolos Tsiachristas
{"title":"Financial incentives to promote personalized medicine in Europe: an overview and guidance for implementation.","authors":"Rositsa Koleva-Kolarova,&nbsp;László Szilberhorn,&nbsp;Tamás Zelei,&nbsp;Heleen Vellekoop,&nbsp;Balázs Nagy,&nbsp;Simone Huygens,&nbsp;Matthijs Versteegh,&nbsp;Maureen Rutten-van Mölken,&nbsp;Sarah Wordsworth,&nbsp;Apostolos Tsiachristas","doi":"10.2217/pme-2022-0145","DOIUrl":"10.2217/pme-2022-0145","url":null,"abstract":"<p><p>The implementation of adequate financing and reimbursement of personalized medicine (PM) in Europe is still turbulent. The views and experience of stakeholders about barriers in financing and reimbursing PM and potential solutions were elicited and supplemented with literature findings to draft a set of recommendations. Key recommendations to overcome the barriers for adequately financing and reimbursing PM in different healthcare systems in Europe included the provision of legal foundations and establishment of large pan-European databases, use of financial-based agreements and regulation of transparency of prices and reimbursement, and creating a business-friendly environment and attractive market for innovation. The recommendations could be used by health authorities for designing a sequence of policy steps to ensure the timely access to beneficial PM.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":"305-319"},"PeriodicalIF":2.3,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10104221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Budget impact and transferability of cost-effectiveness of DPYD testing in metastatic breast cancer in three health systems. 三个卫生系统中转移性乳腺癌症DPYD检测成本效益的预算影响和可转移性。
IF 2.3 4区 医学
Personalized medicine Pub Date : 2023-07-01 Epub Date: 2023-08-14 DOI: 10.2217/pme-2022-0133
Rositsa Koleva-Kolarova, Heleen Vellekoop, Simone Huygens, Matthijs Versteegh, Maureen Rutten-van Mölken, László Szilberhorn, Tamás Zelei, Balázs Nagy, Sarah Wordsworth, Apostolos Tsiachristas
{"title":"Budget impact and transferability of cost-effectiveness of <i>DPYD</i> testing in metastatic breast cancer in three health systems.","authors":"Rositsa Koleva-Kolarova,&nbsp;Heleen Vellekoop,&nbsp;Simone Huygens,&nbsp;Matthijs Versteegh,&nbsp;Maureen Rutten-van Mölken,&nbsp;László Szilberhorn,&nbsp;Tamás Zelei,&nbsp;Balázs Nagy,&nbsp;Sarah Wordsworth,&nbsp;Apostolos Tsiachristas","doi":"10.2217/pme-2022-0133","DOIUrl":"10.2217/pme-2022-0133","url":null,"abstract":"<p><p>The cost-effectiveness and budget impact of introducing extended <i>DPYD</i> testing prior to fluoropyrimidine-based chemotherapy in metastatic breast cancer patients in the UK, The Netherlands and Hungary were examined. <i>DPYD</i> testing with ToxNav<sup>©</sup> was cost-effective in all three countries. In the UK and The Netherlands, the ToxNav strategy led to more quality-adjusted life years and fewer costs to the health systems compared with no genetic testing and standard dosing of capecitabine/5-fluorouracil. In Hungary, the ToxNav strategy produced more quality-adjusted life years at a higher cost compared with no testing and standard dose. The ToxNav strategy was found to offer budget savings in the UK and in The Netherlands, while in Hungary it resulted in additional budget costs.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":"357-374"},"PeriodicalIF":2.3,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9993270","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cost-effectiveness of genetic-based screening strategies for maturity-onset diabetes of the young. 基于基因的筛查策略对年轻人成熟期糖尿病的成本效益。
IF 2.3 4区 医学
Personalized medicine Pub Date : 2023-07-01 Epub Date: 2023-09-11 DOI: 10.2217/pme-2023-0023
Gábor Kovács, Dávid Nagy, László Szilberhorn, Tamás Zelei, Zsolt Gaál, Heleen Vellekoop, Simone Huygens, Matthijs Versteegh, Maureen Rutten-van Mölken, Rositsa Koleva-Kolarova, Apostolos Tsiachristas, Sarah Wordsworth, Balázs Nagy
{"title":"Cost-effectiveness of genetic-based screening strategies for maturity-onset diabetes of the young.","authors":"Gábor Kovács,&nbsp;Dávid Nagy,&nbsp;László Szilberhorn,&nbsp;Tamás Zelei,&nbsp;Zsolt Gaál,&nbsp;Heleen Vellekoop,&nbsp;Simone Huygens,&nbsp;Matthijs Versteegh,&nbsp;Maureen Rutten-van Mölken,&nbsp;Rositsa Koleva-Kolarova,&nbsp;Apostolos Tsiachristas,&nbsp;Sarah Wordsworth,&nbsp;Balázs Nagy","doi":"10.2217/pme-2023-0023","DOIUrl":"10.2217/pme-2023-0023","url":null,"abstract":"<p><p>Maturity-onset diabetes of the young (MODY) is often misdiagnosed as Type I or II diabetes. This study was designed to assess the cost-effectiveness of MODY screening strategies in Hungary, which included a recent genetic test compared with no routine screening for MODY. A simulation model that combined a decision tree and an individual-level Markov model was constructed to assess the costs per quality-adjusted life year of screening strategies. Stratifying patients based on age and insulin treatment followed by a risk assessment questionnaire, a laboratory test and genetic testing was the most cost-effective strategy, saving EUR 12 and generating 0.0047 quality-adjusted life years gained per screened patient. This screening strategy could be considered for reimbursement, especially in countries with limited resources.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":"375-385"},"PeriodicalIF":2.3,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10200320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Genetic polymorphisms of very important pharmacogene variants in the Chinese Lisu population. 中国傈僳族人群中重要药物基因变异的遗传多态性。
IF 2.3 4区 医学
Personalized medicine Pub Date : 2023-05-01 DOI: 10.2217/pme-2022-0117
Hongyan Lu, Zhanhao Zhang, Yuliang Wang, Li Wang, Dongya Yuan, Yongjun He, Tianbo Jin
{"title":"Genetic polymorphisms of very important pharmacogene variants in the Chinese Lisu population.","authors":"Hongyan Lu,&nbsp;Zhanhao Zhang,&nbsp;Yuliang Wang,&nbsp;Li Wang,&nbsp;Dongya Yuan,&nbsp;Yongjun He,&nbsp;Tianbo Jin","doi":"10.2217/pme-2022-0117","DOIUrl":"https://doi.org/10.2217/pme-2022-0117","url":null,"abstract":"<p><p><b>Aim:</b> Interindividual and interethnic differences in drug efficacy drive the development and progress of pharmacogenomics and precision medicine. This study was performed to enrich the pharmacogenomic information for the Lisu population from China. <b>Methods:</b> 54 very important pharmacogene variants were selected from PharmGKB and genotyped in 199 Lisu individuals. The genotype distribution data of 26 populations were downloaded from the 1000 Genomes Project and analyzed with the χ<sup>2</sup> test. <b>Results:</b> Among the 26 populations in the 1000 Genomes Project, African Caribbeans in Barbados; Esan in Nigeria; Gambian in Western Divisions, The Gambia; Luhya in Webuye, Kenya; Yoruba in Ibadan; Finnish in Finland; Toscani in Italy and Sri Lankan Tamil in the UK were the top eight nationalities with the most significant differences in genotype distribution from the Lisu population. The loci of <i>CYP3A</i>5 rs776746, <i>KCNH2</i> rs1805123, <i>ACE</i> rs4291, <i>SLC19A1</i> rs1051298 and <i>CYP2D6</i> rs1065852 were significantly different in the Lisu. <b>Conclusion:</b> The results showed that there were substantial differences in SNPs of very important pharmacogene variants, which can provide a theoretical basis for individualized drug use for the Lisu.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 3","pages":"239-249"},"PeriodicalIF":2.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9950450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Institutionalization of personalized medicine in India: analysis of research trends and government interventions. 印度个体化医疗的制度化:研究趋势和政府干预的分析。
IF 2.3 4区 医学
Personalized medicine Pub Date : 2023-05-01 DOI: 10.2217/pme-2022-0122
Ishita Goyal, Madhavi Yennappu
{"title":"Institutionalization of personalized medicine in India: analysis of research trends and government interventions.","authors":"Ishita Goyal,&nbsp;Madhavi Yennappu","doi":"10.2217/pme-2022-0122","DOIUrl":"https://doi.org/10.2217/pme-2022-0122","url":null,"abstract":"<p><p>The biggest challenges that any country faces are affordability and accessibility of quality healthcare. Technological advancements can address these challenges. One such advancement is personalized medicine (PM). This paper discusses the implementation and institutionalization of PM<i>.</i> Using the sectoral innovation system framework, this work describes government interventions with research trends in PM in India. The Web of Science database was used to analyze research trends. Indian government-funded interventions to institutionalize PM were compiled and analyzed. Results suggest that India's healthcare sector is dynamic. The framework discusses some specifics, including the research network, boundaries and government initiatives to promote PM adoption. Based on the policy gaps, this paper further proposes an integrated policy framework for incorporating PM into India's healthcare system.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"20 3","pages":"283-297"},"PeriodicalIF":2.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9941800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：481959085
Book学术官方微信