Personalized medicinePub Date : 2022-09-01Epub Date: 2022-07-26DOI: 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
{"title":"Artificial intelligence in healthcare: a primer for medical education in radiomics.","authors":"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","doi":"10.2217/pme-2022-0014","DOIUrl":"https://doi.org/10.2217/pme-2022-0014","url":null,"abstract":"<p><p>The application of artificial intelligence (AI) to healthcare has garnered significant enthusiasm in recent years. Despite the adoption of new analytic approaches, medical education on AI is lacking. We aim to create a usable AI primer for medical education. We discuss how to generate a clinical question involving AI, what data are suitable for AI research, how to prepare a dataset for training and how to determine if the output has clinical utility. To illustrate this process, we focused on an example of how medical imaging is employed in designing a machine learning model. Our proposed medical education curriculum addresses AI's potential and limitations for enhancing clinicians' skills in research, applied statistics and care delivery.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 5","pages":"445-456"},"PeriodicalIF":2.3,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40539578","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}
Personalized medicinePub Date : 2022-09-01Epub Date: 2022-07-08DOI: 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: <i>CYP3A5</i>, <i>ACE</i>, <i>PTGS2</i> and <i>NAT2</i> 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":"<p><p><b>Aim:</b> Our study aimed to screen the genotype frequencies of very important pharmacogenomic (VIP) mutations and identify their differences between Bai and other populations. <b>Materials & methods:</b> We selected 66 VIP variants from PharmGKB (www.pharmgkb.org/) for genotyping. χ2 test was used to identify differences in <i>loci</i> between these populations and FST values of Bai and the other 26 populations were analyzed. <b>Results:</b> Our study showed that the frequencies of SNPs of <i>CYP3A5</i>, <i>ACE</i>, <i>PTGS2</i> and <i>NAT2</i> 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. <b>Conclusion:</b> By comparing the genotype frequencies of different populations, the <i>loci</i> with significant differences were identified and discussed, providing a theoretical basis for individualized drug use in the Bai ethnic population.</p>","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}
Personalized medicinePub Date : 2022-09-01Epub Date: 2022-06-27DOI: 10.2217/pme-2021-0141
Sajith Matthews, Phillip D Levy
{"title":"A sociogenomic paradigm to replace the racial paradigm.","authors":"Sajith Matthews, Phillip D Levy","doi":"10.2217/pme-2021-0141","DOIUrl":"https://doi.org/10.2217/pme-2021-0141","url":null,"abstract":"","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 5","pages":"377-382"},"PeriodicalIF":2.3,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40403488","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}
Personalized medicinePub Date : 2022-07-01Epub Date: 2022-06-24DOI: 10.2217/pme-2021-0175
Khalifa Y Alrajeh, Youssef M Roman
{"title":"The frequency of major <i>CYP2C19</i> 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":"<p><p><b>Aim:</b> Prevalence of clinically actionable genetic variants of <i>CYP2C19</i> is lacking in specific population subgroups. This study aims to assess the frequencies of <i>CYP2C19*2</i>, <i>*3</i>, and <i>*17</i> in Asian, Native Hawaiian and Pacific Islander (NHPI) population subgroups compared with Europeans. <b>Patients & methods:</b> 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. <b>Results:</b> The overall frequencies of <i>CYP2C19*2</i> (25-36%) and <i>CYP2C19*3</i> (2.5-10%) were significantly higher in all our subgroups than in Europeans (15 and 0.02%, respectively). The overall frequency of <i>CYP2C19*17</i> was significantly lower in all our subgroups (1-6%) than in Europeans (21.7%). <b>Conclusion:</b> This is the first report on the frequencies of <i>CYP2C19*2</i>, <i>*3</i>, and <i>*17</i> in women of Asian and NHPI descent with distinct population subgroup differences. Differential allele frequencies of <i>CYP2C19</i> among population subgroups underscore the importance of increasing racial and ethnic diversity in pharmacogenetic research.</p>","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}
Yunima Sapkota, Soniya Dulal, P. Gyawali, Ajnish Ghimire, Prabakaran Shankar
{"title":"Personalized medicine in Nepal: current scenario and challenges.","authors":"Yunima Sapkota, Soniya Dulal, P. Gyawali, Ajnish Ghimire, Prabakaran Shankar","doi":"10.2217/pme-2022-0002","DOIUrl":"https://doi.org/10.2217/pme-2022-0002","url":null,"abstract":"","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2022-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47619154","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}
Masoud Asefi, M. Saidijam, Nayebali Rezvani, A. Soltanian, A. Khalilian, Ali Mahdavinezhad
{"title":"A novel epigenetic biomarker, plasma miR-138-5p gene promoter-methylated DNA, for colorectal cancer diagnosis.","authors":"Masoud Asefi, M. Saidijam, Nayebali Rezvani, A. Soltanian, A. Khalilian, Ali Mahdavinezhad","doi":"10.2217/pme-2021-0095","DOIUrl":"https://doi.org/10.2217/pme-2021-0095","url":null,"abstract":"Aim: The miR-138-5p promoter-methylated DNA level, miR-138-5p and PDL1 expression were investigated in colorectal cancer (CRC) patients. Materials & methods: miR-138-5p promoter methylation status and miR-138-5p expression were investigated using the MethyLight and qPCR method, respectively. For measuring PDL-1, we applied the Bioassay Technology Elisa kit. Results: The percentage of methylated reference values of plasma and tissue samples from patients was higher than control groups. The area under curve presented a sensitivity of 55% and a specificity of 82.5% for plasma samples. Compared with the control groups, lower expression of miR-138-5p and higher concentration of PDL1 protein were observed in the patients group. Conclusion: CRC may be detected early by identifying miR-138-5p methylated DNA in plasma as a diagnostic biomarker.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2022-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46359001","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}
S. Adeleke, Aidan Haslam, A. Choy, S. Diaz-Cano, J. Galante, C. Mikropoulos, S. Boussios
{"title":"Microsatellite instability testing in colorectal patients with Lynch syndrome: lessons learned from a case report and how to avoid such pitfalls.","authors":"S. Adeleke, Aidan Haslam, A. Choy, S. Diaz-Cano, J. Galante, C. Mikropoulos, S. Boussios","doi":"10.2217/pme-2021-0128","DOIUrl":"https://doi.org/10.2217/pme-2021-0128","url":null,"abstract":"We present the case of a patient with Lynch syndrome and metastatic colorectal carcinoma (mCRC). The initial immunohistochemistry (IHC) test for deficient mismatch repair gave a false negative result. However, the same mutation has accurately has been detected with IHC in other cancers with microsatellite instability (MSI) This supports the determining role of somatic missense mutations in MMR IHC. MSI-PCR testing confirmed MSI and the patient benefited from nivolumab with a complete metabolic response. We explain the rationale for immunotherapy in mCRC, current testing strategies and discuss future developments in MSI testing. We advocate for upfront testing using both IHC and MSI-PCR to direct therapy in mCRC, and a greater understanding of IHC and MSI-PCR testing pitfalls.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2022-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43872545","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}
D. Johnson, V. Dissanayake, B. Korf, Meredith Towery, R. Haspel
{"title":"An international genomics health workforce education priorities assessment.","authors":"D. Johnson, V. Dissanayake, B. Korf, Meredith Towery, R. Haspel","doi":"10.2217/pme-2021-0094","DOIUrl":"https://doi.org/10.2217/pme-2021-0094","url":null,"abstract":"Aim: Global implementation of genomic medicine will require education of healthcare providers. There are limited international needs assessment data to guide curriculum development. Materials & methods: Genomics education experts developed and distributed a survey to individuals with knowledge of country-specific needs: 113 completed surveys (19% response rate) from 34 countries. A high percentage of respondents ranked non genetics physicians as the #1 target for genetics education. Over 70% indicated a need for moderate/extensive modification in physician training. The majority considered germline and somatic topics and targeting primary care and specialist providers equally important. Conclusion: Regardless of country economic level, there is a clear need for genomics education of healthcare providers. The study results can be used to focus future genomic medicine education efforts.","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2022-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48809850","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}
Personalized medicinePub Date : 2022-05-01Epub Date: 2022-02-04DOI: 10.2217/pme-2021-0174
William B Wong, Daniele Anina, Chia-Wei Lin, Devon V Adams
{"title":"Alignment of health plan coverage policies for somatic multigene panel testing with clinical guidelines in select solid tumors.","authors":"William B Wong, Daniele Anina, Chia-Wei Lin, Devon V Adams","doi":"10.2217/pme-2021-0174","DOIUrl":"https://doi.org/10.2217/pme-2021-0174","url":null,"abstract":"<p><p><b>Aim:</b> Commercial plan coverage policies for multigene panel tests may vary and could result in geographic variation in coverage due to the fragmented nature of the commercial insurance market. This study aimed to characterize the alignment of multigene panel tests coverage policies to that of clinical guidelines, overall and by state. <b>Materials & methods:</b> We reviewed NCCN Guidelines<sup>®</sup> for four tumors. Public coverage policies were identified via web search. Payer policies included those with the largest or second largest number of commercial lives in each state. Policies were classified as 'more restrictive' or 'consistent' with the guidelines. <b>Results:</b> Of 38 plans/policies reviewed, 71% were classified as 'more restrictive' than the guidelines, with variation in the number of commercial lives by state. Among these, 52% restricted on panel size and 63% restricted in all or select tumors. <b>Conclusion:</b> Most coverage policies were more restrictive. Clinical guideline clarity and state policies may improve alignment to guidelines and geographic variations.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 3","pages":"171-180"},"PeriodicalIF":2.3,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39750516","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}
Personalized medicinePub Date : 2022-05-01Epub Date: 2022-01-31DOI: 10.2217/pme-2021-0133
Jianmin Huang, Yanfang Yun, Haiyan Chen, Guixin Yang, Yongming Jiang, Yaoxin Pan, Shengshan Yuan, Jianjun Huang, Li Su, Yingning Wu, Dong Lu, Anding Xu, Xuebin Li
{"title":"Association of <i>PON-1</i> polymorphism with susceptibility to and severity of ischemic stroke in the Chinese population.","authors":"Jianmin Huang, Yanfang Yun, Haiyan Chen, Guixin Yang, Yongming Jiang, Yaoxin Pan, Shengshan Yuan, Jianjun Huang, Li Su, Yingning Wu, Dong Lu, Anding Xu, Xuebin Li","doi":"10.2217/pme-2021-0133","DOIUrl":"https://doi.org/10.2217/pme-2021-0133","url":null,"abstract":"<p><p><b>Aim:</b> The authors aimed to investigate whether polymorphisms of <i>PON-1</i> were associated with the susceptibility to and severity of ischemic stroke (IS). <b>Methods:</b> In this study, 302 IS patients and 303 healthy controls were enrolled. Polymorphisms rs854560 and rs854572 of <i>PON-1</i> were detected using SNaPshot single-nucleotide polymorphism typing technology. <b>Results:</b> The rs854572 polymorphism of the <i>PON-1</i> gene showed a significant correlation with IS, and its GG genotype reduced the risk of IS (recessive model, p = 0.001). The GG genotype was also associated with mild stroke (p = 0.032). No association was observed between rs854560 and IS. <b>Conclusion:</b><i>PON-1</i> rs854572 polymorphism was related to the risk of IS and could be a biomarker to access the severity of IS.</p>","PeriodicalId":19753,"journal":{"name":"Personalized medicine","volume":"19 3","pages":"219-228"},"PeriodicalIF":2.3,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39870835","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}