Personalized medicine最新文献_第5页

Investigation of DPYD, MTHFR and TYMS polymorphisms on 5-fluorouracil related toxicities in colorectal cancer. DPYD、MTHFR和TYMS多态性对结直肠癌5-氟尿嘧啶相关毒性的影响

IF 2.3 4区医学

Personalized medicine Pub Date : 2022-09-01 Epub Date: 2022-07-26 DOI: 10.2217/pme-2021-0047

Mehtap Cevik, Esat Namal, Nur Dinc Sener, Ulkuhan Iner Koksal, Penbe Cagatay, Gokce Deliorman, Cavlan Ciftci, Atila Karaalp, Belgin Susleyici

{"title":"Investigation of DPYD, MTHFR and TYMS polymorphisms on 5-fluorouracil related toxicities in colorectal cancer.","authors":"Mehtap Cevik, Esat Namal, Nur Dinc Sener, Ulkuhan Iner Koksal, Penbe Cagatay, Gokce Deliorman, Cavlan Ciftci, Atila Karaalp, Belgin Susleyici","doi":"10.2217/pme-2021-0047","DOIUrl":"https://doi.org/10.2217/pme-2021-0047","url":null,"abstract":"Aim: To investigate the association of DPYD, MTHFR and TYMS polymorphisms on 5-fluorouracil (5-FU) related toxicities and patient survival. Materials & methods: A total of 103 colorectal cancer patients prescribed 5-FU were included in the study. Genotyping was conducted for several DPYD, MTHFR and TYMS polymorphisms using a microarray analyzer. Results: DPYD 496A>G polymorphism was found to be significantly associated with 5-FU related grade 0-2, but not severe toxicities (p = 0.02). Furthermore, patients with DPYD 85TC and CC genotypes had longer progression and overall survival times compared to TT genotypes in our study group (log rank = 6.60; p = 0.01 and log rank = 4.40; p = 0.04, respectively). Conclusion: According to our results, DPYD 496AG and GG genotypes might be protective against severe adverse events compared to the AA genotype. Another DPYD polymorphism, 85T>C, may be useful in colorectal cancer prognosis. Further studies for both polymorphisms should be conducted in larger populations to achieve accurate results.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 5","pages":"435-444"},"PeriodicalIF":2.3,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40554983","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

RNA-based next-generation sequencing in non-small-cell lung cancer in a routine setting: an experience from an Italian referral center. 基于rna的下一代测序在非小细胞肺癌的常规设置:来自意大利转诊中心的经验。

IF 2.3 4区医学

Personalized medicine Pub Date : 2022-09-01 Epub Date: 2022-07-08 DOI: 10.2217/pme-2022-0020

Caterina De Luca, Francesco Pepe, Pasquale Pisapia, Antonino Iaccarino, Luisella Righi, Angela Listì, Gianluca Russo, Severo Campione, Fabio Pagni, Mariantonia Nacchio, Floriana Conticelli, Maria Russo, Teresa Fabozzi, Elena Vigliar, Claudio Bellevicine, Danilo Rocco, Stefano Laudati, Giuseppe Iannaci, Bruno Daniele, Cesare Gridelli, Diego Luigi Cortinovis, Silvia Novello, Miguel Angel Molina-Vila, Rafael Rosell, Giancarlo Troncone, Umberto Malapelle

{"title":"RNA-based next-generation sequencing in non-small-cell lung cancer in a routine setting: an experience from an Italian referral center.","authors":"Caterina De Luca, Francesco Pepe, Pasquale Pisapia, Antonino Iaccarino, Luisella Righi, Angela Listì, Gianluca Russo, Severo Campione, Fabio Pagni, Mariantonia Nacchio, Floriana Conticelli, Maria Russo, Teresa Fabozzi, Elena Vigliar, Claudio Bellevicine, Danilo Rocco, Stefano Laudati, Giuseppe Iannaci, Bruno Daniele, Cesare Gridelli, Diego Luigi Cortinovis, Silvia Novello, Miguel Angel Molina-Vila, Rafael Rosell, Giancarlo Troncone, Umberto Malapelle","doi":"10.2217/pme-2022-0020","DOIUrl":"https://doi.org/10.2217/pme-2022-0020","url":null,"abstract":"Aim: ALK, ROS1, NTRK and RET gene fusions and MET exon 14 skipping alterations represent novel predictive biomarkers for advanced non-small-cell lung cancer (NSCLC). Therefore, testing patients for these genetic variants is crucial for choosing the best selective treatment. Over the last couple of decades, next-generation sequencing (NGS) platforms have emerged as an extremely useful tool for detecting these variants. Materials & methods: In the present study, we report our NGS molecular records produced during a year of diagnostic activity. Results: Overall, our in-house developed NGS workflow successfully analyzed n = 116/131 (88.5%) NSCLC samples. Of these, eight (6.8%) and five (4.3%) out of 116 patients harbored ALK and RET gene rearrangements, respectively: one case harbored ROS1 gene fusion (0.7%). Conclusion: Our results highlight that an RNA-based NGS analysis can reliably detect gene fusion alterations, thereby playing a pivotal role in the management of NSCLC patients.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 5","pages":"395-401"},"PeriodicalIF":2.3,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40594802","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

The pharmacogenetics of mycophenolate mofetil in Tunisian renal transplant patients. 突尼斯肾移植患者霉酚酸酯的药物遗传学研究。

IF 2.3 4区医学

Personalized medicine Pub Date : 2022-09-01 Epub Date: 2022-06-30 DOI: 10.2217/pme-2021-0092

Amani Abderahmene, Amel Ellouz, Dorra Amor, Marwa Ajmi, Yassine Khalij, Haithem Hamdouni, Wissal Sahtout, Awatef Azzabi, Asma Omezzine, Abdellatif Achour, Ali Bouslama

{"title":"The pharmacogenetics of mycophenolate mofetil in Tunisian renal transplant patients.","authors":"Amani Abderahmene, Amel Ellouz, Dorra Amor, Marwa Ajmi, Yassine Khalij, Haithem Hamdouni, Wissal Sahtout, Awatef Azzabi, Asma Omezzine, Abdellatif Achour, Ali Bouslama","doi":"10.2217/pme-2021-0092","DOIUrl":"https://doi.org/10.2217/pme-2021-0092","url":null,"abstract":"Aim: The effects of variants in IMPDH, UGT1A9, UGT1A8, UGT2B7 and SLCO1B1 genes on the efficacy and safety of mycophenolate mofetil (MMF) in the Tunisian population were investigated. Materials & methods: A total of 245 kidney transplant patients being treated with MMF were recruited and cotreated with cyclosporine or tacrolimus. Genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism method. MMF, cyclosporine and tacrolimus trough levels were measured by immunoassay. The AUC (AUC0-12hMPA) was estimated by a Bayesian method. Results: In the tacrolimus-treated group, anemia and diarrhea were associated with the UGT1A9-98C and UGT1A9-275T alleles, respectively (p < 0.05). In the cyclosporine-treated group, leukopenia was associated with the SLCO1B1-521T allele (p < 0.05). Both groups had an increased risk of rejection (p < 0.05) associated with the variant alleles of IMPDH2-3757T>C, UGT1A9-2152C>T and UGT1A9-275C>A and the common allele of SLCO1B1-388A>G. However, no significant association was found between the studied genotypes and AUC0-12hMPA or cotreatment levels. Conclusion: The results constitute preliminary evidence for the inclusion of the pharmacogenetics of MMF in kidney pretransplantation evaluations.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 5","pages":"383-393"},"PeriodicalIF":2.3,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40411049","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

Pharmacogenetic testing in pediatric neurology: a pragmatic study evaluating clinician and patient perceptions. 儿童神经病学的药物遗传学测试:一项评估临床医生和患者认知的实用研究。

IF 2.3 4区医学

Personalized medicine Pub Date : 2022-09-01 Epub Date: 2022-07-13 DOI: 10.2217/pme-2021-0150

Marie-Anne Pépin, Anne-Sophie Otis, Zoë Tremblay, Marianne Boulé, Denis Lebel, Philippe Major, Anne Lortie, Elana Pinchefsky, Elsa Rossignol, Bruce Carleton, Jean-François Bussières, Marie-Élaine Métras

{"title":"Pharmacogenetic testing in pediatric neurology: a pragmatic study evaluating clinician and patient perceptions.","authors":"Marie-Anne Pépin, Anne-Sophie Otis, Zoë Tremblay, Marianne Boulé, Denis Lebel, Philippe Major, Anne Lortie, Elana Pinchefsky, Elsa Rossignol, Bruce Carleton, Jean-François Bussières, Marie-Élaine Métras","doi":"10.2217/pme-2021-0150","DOIUrl":"https://doi.org/10.2217/pme-2021-0150","url":null,"abstract":"Aim: To evaluate clinicians' and patients' perceptions of pharmacogenetic testing in a clinical setting. Materials & methods: This is a pragmatic mixed-method prospective observational study. Hospital pharmacists and neurologists participated in focus groups regarding pharmacogenetic testing; patients who received pharmacogenetic testing and their community pharmacists completed surveys to assess their perception of these tests. Results: Most study participants had a positive view of pharmacogenetic testing. Three major themes were identified from the focus groups: receptiveness to pharmacogenetic testing, pharmacogenetic test characteristics and integrating pharmacogenetic tests into practice. Conclusion: The views reported are encouraging for the eventual implementation of pharmacogenetics in practice. Local integration of these tests is an essential step to improve patient care through personalized medicine.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 5","pages":"423-434"},"PeriodicalIF":2.3,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40501674","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

Artificial intelligence in healthcare: a primer for medical education in radiomics. 医疗保健中的人工智能:放射组学医学教育入门。

IF 2.3 4区医学

Personalized medicine Pub Date : 2022-09-01 Epub Date: 2022-07-26 DOI: 10.2217/pme-2022-0014

Carly E Waldman, Melody Hermel, Jonathan A Hermel, Francis Allinson, Mark N Pintea, Natalie Bransky, Emem Udoh, Laura Nicholson, Austin Robinson, Jorge Gonzalez, Christopher Suhar, Keshav Nayak, George Wesbey, Sanjeev P Bhavnani

引用次数: 7

Analysis of pharmacogenomic very important pharmacogenomic variants: CYP3A5, ACE, PTGS2 and NAT2 genes in Chinese Bai population. 中国白族人群CYP3A5、ACE、PTGS2和NAT2基因的药物基因组学分析。

IF 2.3 4区医学

Personalized medicine Pub Date : 2022-09-01 Epub Date: 2022-07-08 DOI: 10.2217/pme-2021-0157

Wenting Meng, Wenjie Zhang, Shuangyu Yang, Xia Dou, Yuanwei Liu, Haiyue Li, Jianfeng Liu, Tianbo Jin, Bin Li

{"title":"Analysis of pharmacogenomic very important pharmacogenomic variants: CYP3A5, ACE, PTGS2 and NAT2 genes in Chinese Bai population.","authors":"Wenting Meng, Wenjie Zhang, Shuangyu Yang, Xia Dou, Yuanwei Liu, Haiyue Li, Jianfeng Liu, Tianbo Jin, Bin Li","doi":"10.2217/pme-2021-0157","DOIUrl":"https://doi.org/10.2217/pme-2021-0157","url":null,"abstract":"Aim: Our study aimed to screen the genotype frequencies of very important pharmacogenomic (VIP) mutations and identify their differences between Bai and other populations. Materials & methods: We selected 66 VIP variants from PharmGKB (www.pharmgkb.org/) for genotyping. χ2 test was used to identify differences in loci between these populations and FST values of Bai and the other 26 populations were analyzed. Results: Our study showed that the frequencies of SNPs of CYP3A5, ACE, PTGS2 and NAT2 differed significantly from those of the other 26 populations. At the same time, we found that some VIP variants may affect the metabolism of drugs and the genetic relationship between the Bai population and East Asian populations was found to be the closest. Conclusion: By comparing the genotype frequencies of different populations, the loci with significant differences were identified and discussed, providing a theoretical basis for individualized drug use in the Bai ethnic population.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 5","pages":"403-410"},"PeriodicalIF":2.3,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40570607","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

A sociogenomic paradigm to replace the racial paradigm. 用社会基因组学范式来取代种族范式。

IF 2.3 4区医学

Personalized medicine Pub Date : 2022-09-01 Epub Date: 2022-06-27 DOI: 10.2217/pme-2021-0141

Sajith Matthews, Phillip D Levy

引用次数: 0

The frequency of major CYP2C19 genetic polymorphisms in women of Asian, Native Hawaiian and Pacific Islander subgroups. 亚裔、夏威夷原住民和太平洋岛民亚群妇女中主要 CYP2C19 基因多态性的频率。

IF 2.3 4区医学

Personalized medicine Pub Date : 2022-07-01 Epub Date: 2022-06-24 DOI: 10.2217/pme-2021-0175

Khalifa Y Alrajeh, Youssef M Roman

{"title":"The frequency of major CYP2C19 genetic polymorphisms in women of Asian, Native Hawaiian and Pacific Islander subgroups.","authors":"Khalifa Y Alrajeh, Youssef M Roman","doi":"10.2217/pme-2021-0175","DOIUrl":"10.2217/pme-2021-0175","url":null,"abstract":"Aim: Prevalence of clinically actionable genetic variants of CYP2C19 is lacking in specific population subgroups. This study aims to assess the frequencies of CYP2C19*2, *3, and *17 in Asian, Native Hawaiian and Pacific Islander (NHPI) population subgroups compared with Europeans. Patients & methods: The study included repository DNA samples of 1064 women, 18 years or older, who self-reported as Filipino, Korean, Japanese, Native Hawaiian, Marshallese and Samoan. Results: The overall frequencies of CYP2C19*2 (25-36%) and CYP2C19*3 (2.5-10%) were significantly higher in all our subgroups than in Europeans (15 and 0.02%, respectively). The overall frequency of CYP2C19*17 was significantly lower in all our subgroups (1-6%) than in Europeans (21.7%). Conclusion: This is the first report on the frequencies of CYP2C19*2, *3, and *17 in women of Asian and NHPI descent with distinct population subgroup differences. Differential allele frequencies of CYP2C19 among population subgroups underscore the importance of increasing racial and ethnic diversity in pharmacogenetic research.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 4","pages":"327-339"},"PeriodicalIF":2.3,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9318053/pdf/pme-19-327.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10078819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluating the quality of the economic evidence in colorectal cancer genomics studies. 评估结直肠癌基因组学研究中经济证据的质量。

IF 2.3 4区医学

Personalized medicine Pub Date : 2022-07-01 Epub Date: 2022-07-05 DOI: 10.2217/pme-2021-0006

Vivek S Chaudhari, Kanchan C Hole, Amalia M Issa

{"title":"Evaluating the quality of the economic evidence in colorectal cancer genomics studies.","authors":"Vivek S Chaudhari, Kanchan C Hole, Amalia M Issa","doi":"10.2217/pme-2021-0006","DOIUrl":"https://doi.org/10.2217/pme-2021-0006","url":null,"abstract":"The increase in the use of genome-based screening and diagnostic tests adds to the overall costs of oncologic care for colorectal cancer. This, in turn, has resulted in an increase in published economic analyses. Aim: To perform a systematic literature review of the available economic evidence evaluating the value of genomic testing for colorectal cancer and appraise the quality of the economic studies conducted to date. Methods: A systematic review of the literature for economic studies of colorectal cancer genomics from January 2006 through October 2020, and evaluation of study quality using the Quality of Health Economic Studies (QHES) instrument was conducted. The validated QHES was then applied to a final set of articles that met eligibility criteria. Results: Our search of the literature initially yielded 12,859 records. A final set of 49 articles met our inclusion criteria. The QHES score ranged from 24 to 100, with an average score of 82. Most of the studies (n = 40, 82%) scored above 75 and were considered of good quality. Conclusion: Our analysis revealed that most of the economic analyses of colorectal cancer genomic molecular diagnostics in the literature may be of good quality. There is, however, some variation in methodological rigor between the articles.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":"361-375"},"PeriodicalIF":2.3,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40480000","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

Targeting molecular alterations in non-small-cell lung cancer: what's next? 靶向非小细胞肺癌的分子改变:下一步是什么?

IF 2.3 4区医学

Personalized medicine Pub Date : 2022-07-01 Epub Date: 2022-06-24 DOI: 10.2217/pme-2021-0059

Rafael López-Castro, Tania García-Peña, Xabier Mielgo-Rubio, Mariona Riudavets, Cristina Teixidó, Noelia Vilariño, Felipe Couñago, Laura Mezquita

引用次数: 4