Personalized medicinePub Date : 2026-06-01Epub Date: 2026-06-03DOI: 10.1080/17410541.2026.2678224
Haifa Guo, Jiawei Li, Tao Li, Junzhong Ruan
{"title":"Expression levels of microRNA-550a-5p in patients with spinal metastases from non-small cell lung cancer.","authors":"Haifa Guo, Jiawei Li, Tao Li, Junzhong Ruan","doi":"10.1080/17410541.2026.2678224","DOIUrl":"10.1080/17410541.2026.2678224","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to investigate the expression levels of microRNA-550a-5p (miR-550a-5p) in patients with spinal metastases from non-small cell lung cancer (NSCLC) and to explore its clinical significance.</p><p><strong>Methods: </strong>Serum miR‑550a‑5p levels were measured by RT‑qPCR in NSCLC patients with spinal metastasis, those without metastasis, and healthy controls. The correlation between miR‑550a‑5p and SPECT Soloway grading was assessed via Spearman correlation analysis. Univariate and multivariate logistic regression analyses were performed to identify risk factors for spinal metastasis, while ROC analysis was used to evaluate the diagnostic value of miR‑550a‑5p.</p><p><strong>Results: </strong>Both the non-spine metastasis and spine metastasis groups exhibited higher miR-550a-5p expression than the control group, with the highest expression observed in the spine metastasis group. Univariate analysis showed that serum miR-550a-5p expression and Tumor-Node-Metastasis stage were associated with spinal metastasis, while multivariate analysis confirmed miR-550a-5p as an independent influencing factor. ROC analysis demonstrated that miR-550a-5p had good discriminatory ability between NSCLC patients with and without spinal metastasis. miR-550a-5p expression showed a significant positive correlation with Soloway grading of SPECT bone imaging.</p><p><strong>Conclusion: </strong>miR-550a-5p is upregulated in NSCLC patients with spinal metastases and may serve as a molecular marker for diagnosing spinal metastases and assessing clinical severity.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"171-178"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148152801","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}
Personalized medicinePub Date : 2026-04-01Epub Date: 2026-04-04DOI: 10.1080/17410541.2026.2655298
Emily Nagel, Youssef M Roman
{"title":"The role of real-world data and real-world evidence in advancing regulatory science and targeted therapeutics: a narrative review from the United States perspective.","authors":"Emily Nagel, Youssef M Roman","doi":"10.1080/17410541.2026.2655298","DOIUrl":"10.1080/17410541.2026.2655298","url":null,"abstract":"<p><p>Randomized controlled trials (RCTs) encounter feasibility gaps when addressing rare genetic disorders and molecularly defined patient subgroups. The U.S. Food and Drug Administration has increasingly integrated real-world evidence (RWE) into the regulatory lifecycle. The objective of this article is to analyze the regulatory evolution following the 21st Century Cures Act and evaluate landmark drug approvals and expansions where real-world data (RWD) provided the primary or supplementary evidentiary foundation. A structured search of electronic databases, including PubMed, Embase, and Web of Science, was performed to identify relevant peer-reviewed articles. The tumor-agnostic approval of pembrolizumab demonstrated how RWE can establish clinical utility across multiple cancer types sharing specific biomarkers. For rare diseases like N-acetylglutamate synthase deficiency (carglumic acid), RWE provided essential external comparators where RCTs were impossible. In cystic fibrosis (ivacaftor), the U.S. Cystic Fibrosis Foundation Patient Registry facilitated indication expansions to ultra-rare genetic variants through longitudinal real-world outcomes. RWE proved vital for post-market surveillance in populations typically excluded from trials. While technical challenges in data interoperability and ethical concerns regarding genomic privacy remain, RWE offers a dynamic model that accelerates access to targeted therapies. The integration of high-fidelity RWD ensures that the safety and efficacy of precision medicines are validated within the complex global clinical practice.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"123-130"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147619345","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}
Personalized medicinePub Date : 2026-04-01Epub Date: 2026-04-13DOI: 10.1080/17410541.2026.2657977
Silvia Joseph, Ratna Prabha, David Mathew Thomas, A J Joseph
{"title":"An integrated triple approach - TPMT phenotype, NUDT-15 genotype, and therapeutic drug monitoring of thiopurine metabolites for optimal clinical efficacy: a case series.","authors":"Silvia Joseph, Ratna Prabha, David Mathew Thomas, A J Joseph","doi":"10.1080/17410541.2026.2657977","DOIUrl":"10.1080/17410541.2026.2657977","url":null,"abstract":"<p><p>Thiopurines, a widely used immunosuppressant for autoimmune and inflammatory condition, is associated with potentially severe adverse effects, particularly myelosuppression. Genetic polymorphisms in thiopurine S-methyltransferase (TPMT) and nudix hydrolase 15 (NUDT15) can largely predict the risk of thiopurine-induced toxicity. Therapeutic drug monitoring (TDM) of its metabolites, particularly 6-thioguanine nucleotides (6-TGN), may help to optimize dosing and prevent toxicity. A case series of four Indian patients who developed azathioprine-related myelosuppression is presented. Each patient either expressed a low to intermediate TPMT enzyme activity or a NUDT15 c.415C>T (p.R139C) polymorphism. In all cases, 6-TGN concentrations were measured to assess thiopurine exposure. TPMT phenotyping, NUDT15 genotyping, and 6-TGN monitoring represents an integrated approach to optimize thiopurine therapy.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"69-73"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147679612","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}
{"title":"An evidence gap map of the personalized medicine in bladder cancer.","authors":"Hadi Mostafaei, Hanieh Salehi-Pourmehr, Fatemeh Sadeghi Ghyassi, Helia Mostafaei, Sakineh Hajebrahimi, Shahrokh Shariat","doi":"10.1080/17410541.2025.2530918","DOIUrl":"10.1080/17410541.2025.2530918","url":null,"abstract":"<p><strong>Objective: </strong>The study aims to develop an Evidence Gap Map (EGM) to summarize the current evidence cited in personalized medicine (PM) in bladder cancer, focusing on systematic reviews and high-level evidence syntheses.</p><p><strong>Methods: </strong>The review involved a comprehensive search in databases up to June 2024, and involved a two-phase analysis, using data from PubMed for scientometric analysis and R Studio with the Biblioshiny tool for co-occurring word network analysis.</p><p><strong>Results: </strong>After filtering out irrelevant articles, the selection was narrowed to 3,705 items. The most frequently occurring words were aged, middle-aged, animals, cell lines, tumor, prognosis, gene expression, and mice. The study identified gaps and under-researched categories in PM and bladder cancer research, with Immunotherapy, Neoadjuvant/Adjuvant Therapy, and Gene Therapy being the most researched areas. The evidence map revealed a predominance of low or moderate quality evidence in most domains of PM in bladder cancer, particularly within clinical trials for immunotherapy and biomarker.</p><p><strong>Conclusions: </strong>The field of PM in bladder cancer requires robust research methodologies and interdisciplinary collaboration to overcome challenges. By improving study design and data quality, the field can translate scientific discoveries into clinical innovations, utilizing molecular profiling and targeted therapies to enhance treatment strategies and improve outcomes.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"161-170"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610702","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}
Personalized medicinePub Date : 2026-04-01Epub Date: 2026-04-21DOI: 10.1080/17410541.2026.2659007
Nina D Anfinogenova, Vadim A Stepanov, Alina D Kuznetsova, Nazary P Chesalov, Sergey V Popov, Alexey N Repin
{"title":"Prevalence and correlates of pharmacotherapy metabolized by CYP2C19, CYP2C9, CYP2D6, and UGT1A1 in the population sample.","authors":"Nina D Anfinogenova, Vadim A Stepanov, Alina D Kuznetsova, Nazary P Chesalov, Sergey V Popov, Alexey N Repin","doi":"10.1080/17410541.2026.2659007","DOIUrl":"10.1080/17410541.2026.2659007","url":null,"abstract":"<p><strong>Objective: </strong>Telecommunication-based cross-sectional study aimed to assess prevalence and health-related correlates of pharmacogenetic (PGx) drug administration.</p><p><strong>Methods: </strong>Online survey population sample (<i>n</i> = 2149) was initiated by SMS invitations to random adults. Questionnaire included questions on demographics, health, and clinical pharmacology. PGx drugs were identified using ClinPGx/PharmGKB database. Combined number of drug-gene interactions involving <i>CYP2C19, CYP2C9, CYP2D6</i>, and/or <i>UGT1A1</i> was referred to as Z-score. Subgroup of respondents was genotyped for <i>CYP2C19, CYP2C9, CYP2D6</i>, and <i>UGT1A1</i> variants.</p><p><strong>Results: </strong>Nearly 70% of respondents were taking pharmacotherapy. Susceptibility to adverse drug reactions (ADRs) positively correlated with PGx drug intake (<i>p</i> = 0.03454, <i>n</i> = 2149). Susceptibility to ADRs in genotyped group (<i>n</i> = 83) correlated with carriership of loss-of-function variants of <i>UGT1A1</i> (<i>7TA/7TA</i>, <i>r</i> = 0.2355, <i>p</i> = 0.03796), <i>CYP2C19</i> (<i>*2/*17</i>, <i>r</i> = 0.3317, <i>p</i> = 0.003012), and combined carriership of loss-of-function variants of four study genes (<i>r</i> = 0.2291, <i>p</i> = 0.04361). One, two, and three actionable drug-gene interactions were present in 15.7%, 10.8%, and 1.2% of cases, respectively.</p><p><strong>Conclusions: </strong>Carriership of loss-of-function variants of study pharmacogenes was associated with increased susceptibility of participants to ADRs. Further research is needed to elucidate clinical relevance of PGx burden at population level.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"107-121"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147731079","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}
Personalized medicinePub Date : 2026-04-01Epub Date: 2026-04-10DOI: 10.1080/17410541.2026.2655104
Ali Morabbi, Hasti Balali, Ali Karimian
{"title":"Association of a common SOD gene variant with ARHL risk: analysis by age, hearing threshold, and enzyme activity.","authors":"Ali Morabbi, Hasti Balali, Ali Karimian","doi":"10.1080/17410541.2026.2655104","DOIUrl":"10.1080/17410541.2026.2655104","url":null,"abstract":"<p><strong>Aim: </strong>This study aimed to investigate the association between the superoxide dismutase 2 (SOD2)-rs4880 polymorphism and age-related hearing loss (ARHL) in an Iranian population, assessing its impact on age, hearing loss severity, and SOD activity, alongside bioinformatics and molecular docking analyses with TOM20.</p><p><strong>Materials and methods: </strong>This case-control study included 145 ARHL patients and 155 healthy controls. Serum SOD activity was measured using a commercial kit and rs4880 genotyping was done via PCR-RFLP. Bioinformatics tools focusing on HADDOCK-2.4 were used to assess the interaction between SOD2 signal peptides and the TOM20 receptor.</p><p><strong>Results: </strong>The TT genotype and T allele were associated with increased ARHL risk (OR =1.98, <i>p</i> = 0.032; OR = 1.48, <i>p</i> = 0.018), with a stronger effect in individuals older than 60 years. Serum SOD activity was significantly lower in patients (12.05 ± 2.04 U/ml) than controls (12.62 ± 2.04 U/ml, <i>p</i> = 0.017). Bioinformatics data revealed that the mutant variant exhibits 34% lower alpha-helix propensity compared to the wild-type. Docking results confirmed a weaker binding affinity for the mutant variant compared to the wild-type, suggesting inefficient recognition and recruitment by the mitochondrial import machinery.</p><p><strong>Conclusion: </strong>The SOD2-rs4880 polymorphism may disrupt mitochondrial import via TOM20 and can be considered a molecular risk factor for ARHL, especially in older age.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"83-95"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147648024","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}
Personalized medicinePub Date : 2026-04-01Epub Date: 2026-04-06DOI: 10.1080/17410541.2026.2655105
Manjunath Dammalli, Bhavya S G, K R Maruthi, Rangaswamy B E, Deepak A Yaraguppi
{"title":"Genome diagnostics: a pillar of twenty-first century healthcare and precision medicine.","authors":"Manjunath Dammalli, Bhavya S G, K R Maruthi, Rangaswamy B E, Deepak A Yaraguppi","doi":"10.1080/17410541.2026.2655105","DOIUrl":"10.1080/17410541.2026.2655105","url":null,"abstract":"<p><p>Genomic diagnostics is revolutionizing disease management and forms the cornerstone of precision medicine. This review details the multi-stage operational process of genomic testing, encompassing patient counseling, sample logistics, high-throughput sequencing, bioinformatics pipelines, and clinical interpretation. We examine stringent global regulatory frameworks, including the U.S. FDA, European EMA, and India's CDSCO, which ensure quality and market authorization. Despite technological advancements, significant implementation challenges remain. These include a shortage of trained computational biologists and genetic counselors, the complexities of Electronic Health Record integration, and the requirement for robust quality management systems. Economically, high upfront costs and evolving reimbursement policies present further hurdles. Additionally, the paper addresses critical ethical, legal, and social implications, such as data privacy under India's DPDP Act, informed consent, and the management of secondary findings. The review also highlights the pivotal role of India's private sector and government initiatives like the Genome India Project in building foundational infrastructure. Collectively, these efforts suggest a promising future for personalized prevention and treatment. By synthesizing the scientific, clinical, and commercial facets of genomic diagnostics, this resource provides a comprehensive overview for stakeholders navigating this multifaceted landscape.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"131-145"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147625065","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}
{"title":"Integrating host genetics in <i>Helicobacter pylori</i> infection: clinical insights for personalized eradication strategies.","authors":"Nazanin Khazali, Paria Ghadersoltani, Parastoo Saniee","doi":"10.1080/17410541.2026.2653875","DOIUrl":"10.1080/17410541.2026.2653875","url":null,"abstract":"<p><p><i>Helicobacter pylori</i>, a Group I carcinogen, infects over half the global population and is a leading cause of gastric cancer. Standard triple therapy with proton pump inhibitors (PPIs) and antibiotics frequently fails, often due to antibiotic resistance and host-specific factors. Emerging evidence highlights the critical role of host genetics in treatment outcomes. Polymorphisms in drug-metabolizing enzymes like CYP2C19 affect PPI efficacy, necessitating personalized dosing. Genetic variations in drug transporters (e.g. P-gp) and immune-related genes (e.g. cytokines, TLRs) further influence antibiotic pharmacokinetics, inflammatory responses, and bacterial persistence. Additionally, the interaction between <i>H. pylori</i> and gastric mucins, governed by expression and glycosylation patterns, affects bacterial adherence and disease severity. This review synthesizes how host-genetic variations in drug metabolism, immunity, and mucin biology interact with bacterial virulence to dictate infection persistence and treatment success. A deeper understanding of these host-pathogen mechanisms is vital for developing tailored eradication strategies. Integrating genetic profiling into clinical practice promises to overcome treatment failure, curb antibiotic resistance, and advance precision medicine for <i>H. pylori</i>-associated diseases. For this review, PubMed was searched for articles published primarily between January 2018 and October 2025 using the keywords. Earlier seminal studies were also included when relevant.</p>","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"147-160"},"PeriodicalIF":0.0,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147694443","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}