Personalized medicine最新文献_第2页

CAUSAL artificial intelligence and data-driven decision intelligence in personalized medicine: a review of healthcare informatics systems. 个性化医疗中的人工智能和数据驱动决策智能：医疗信息系统综述。

Personalized medicine Pub Date : 2026-08-01 Epub Date: 2026-08-13 DOI: 10.1080/17410541.2026.2715349

Mohammed Majid Bakhsh, Emran Hossain, Moustaq Karim Khan Rony, Tushar Roy, Preety Arifa Momotaj, Rijvi Mahmudul Haque, Md Nazmussakib, Mia Md Tofayel Gonee Manik

{"title":"CAUSAL artificial intelligence and data-driven decision intelligence in personalized medicine: a review of healthcare informatics systems.","authors":"Mohammed Majid Bakhsh, Emran Hossain, Moustaq Karim Khan Rony, Tushar Roy, Preety Arifa Momotaj, Rijvi Mahmudul Haque, Md Nazmussakib, Mia Md Tofayel Gonee Manik","doi":"10.1080/17410541.2026.2715349","DOIUrl":"10.1080/17410541.2026.2715349","url":null,"abstract":"This review examines the integration of causal artificial intelligence (AI) and data-driven decision intelligence within healthcare informatics systems to advance personalized medicine and clinical decision-making. A narrative review methodology was employed, synthesizing interdisciplinary literature from major databases, including PubMed, Scopus, Web of Science, IEEE Xplore, and ScienceDirect. Studies focusing on causal inference, decision intelligence, and healthcare informatics applications in personalized medicine were included. Data were extracted on methodological approaches, healthcare settings, analytical techniques, and clinical applications, followed by thematic synthesis. Findings indicate that causal AI enhances clinical decision support by enabling estimation of treatment effects and simulation of intervention outcomes at the individual patient level. Integration of multimodal health data such as electronic health records, genomic data, and real-time monitoring improves prediction accuracy and supports tailored treatment strategies. Additionally, causal models improve interpretability, fostering clinician trust and facilitating transparent decision-making. Robust healthcare informatics infrastructures, including interoperable systems and data warehouses, were identified as critical enablers of causal analytics. Overall, causal AI represents a transformative advancement in healthcare analytics, supporting more informed, individualized, and evidence-based clinical decisions. Its integration within healthcare informatics systems has significant potential to improve patient outcomes and guide the future of intelligent, personalized healthcare delivery.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"383-410"},"PeriodicalIF":0.0,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148762903","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

In silico characterization of MC4R variants reveals insights into Setmelanotide pharmacogenomics and personalized medicine for obesity. MC4R变异的计算机表征揭示了Setmelanotide药物基因组学和肥胖个性化医学的见解。

Personalized medicine Pub Date : 2026-06-01 Epub Date: 2026-05-28 DOI: 10.1080/17410541.2026.2679124

Bruno Fonseca Nunes, Valdelúcia Maria Alves de Souza Grinevicius, Rozangela Curi Pedroza, Fabíola Branco Filippin-Monteiro

{"title":"In silico characterization of MC4R variants reveals insights into Setmelanotide pharmacogenomics and personalized medicine for obesity.","authors":"Bruno Fonseca Nunes, Valdelúcia Maria Alves de Souza Grinevicius, Rozangela Curi Pedroza, Fabíola Branco Filippin-Monteiro","doi":"10.1080/17410541.2026.2679124","DOIUrl":"10.1080/17410541.2026.2679124","url":null,"abstract":"Aims: The Melanocortin-4 receptor is a key regulator of energy homeostasis, and loss-of-function variants are the most common cause of monogenic obesity. This study aimed to characterize MC4R genetic variants and evaluate their potential impact on receptor function and interaction with Setmelanotide.Materials and methods: An in silico approach was applied to analyze MC4R single nucleotide polymorphisms (SNPs). Variants were retrieved from ClinVar and dbSNP and evaluated using PredictSNP and complementary tools to assess evolutionary conservation, protein stability, and structural and functional effects. Structural modeling and interaction analyses were performed to investigate receptor-ligand binding.Results: Among 84 ClinVar variants, 15 were predicted as deleterious, while 10 of 350 dbSNP variants showed similar predictions. A total of 25 variants were further analyzed, revealing effects on protein stability, conserved residues, and structural conformation. Interaction modeling identified key amino acids involved in Setmelanotide binding and suggested that specific variants may influence receptor-agonist interactions.Conclusions: These findings provide insights into the structural and functional consequences of MC4R variants and highlight their potential relevance for pharmacogenomic studies, supporting future experimental validation in MC4R-related obesity.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"199-210"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148045375","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

Digital biomarkers in chronic disease management: a systematic review of personalization and ethical challenges. 慢性疾病管理中的数字生物标志物：个性化和伦理挑战的系统回顾。

Personalized medicine Pub Date : 2026-06-01 Epub Date: 2026-06-08 DOI: 10.1080/17410541.2026.2682847

Shrivats Manikandan, Steiv Shore, Daniel Waszczuk, Sumitra Miriyala, Gayathri Sadanala

{"title":"Digital biomarkers in chronic disease management: a systematic review of personalization and ethical challenges.","authors":"Shrivats Manikandan, Steiv Shore, Daniel Waszczuk, Sumitra Miriyala, Gayathri Sadanala","doi":"10.1080/17410541.2026.2682847","DOIUrl":"10.1080/17410541.2026.2682847","url":null,"abstract":"Introduction: Chronic diseases remain leading contributors to global mortality, yet digital biomarkers offer transformative potential for personalized management. This systematic review evaluates the clinical performance of digital biomarkers across multiple chronic disease areas and the ethical, privacy, and equity barriers to their adoption.Methods: Following PRISMA guidelines, we searched PubMed (January 2010-August 2024) for studies evaluating digital biomarkers in chronic disease management. English-language, peer-reviewed studies reporting original empirical data were included; reviews and protocols were retained as contextual references. Study quality was assessed qualitatively given heterogeneity in designs and outcome metrics, precluding meta-analysis.Results: Sixty-eight studies (33 primary empirical, 35 contextual) were included, spanning cardiovascular disease, diabetes, respiratory conditions, neurological disorders, and mental health. Key findings included 100% atrial fibrillation detection sensitivity (KardiaMobile), 92-94% seizure detection sensitivity (Embrace Watch), significant HbA1c improvement with smart insulin pens (p = 0.006), and 87% versus 74% CPAP adherence with smart monitoring. However, device costs ($80-$1,690), regulatory gaps, limited population diversity in validation studies, and poor data interoperability hinder equitable adoption.Conclusions: Digital biomarkers demonstrate strong clinical utility but require harmonized regulatory standards, diverse-population validation, algorithmic transparency, and expanded reimbursement to achieve equitable, personalized chronic disease management. Evidence remains preliminary, necessitating large-scale, multi-site trials.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"275-295"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148201856","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 impact of the rise of the chatbots: transforming genetics clinical delivery and research. 聊天机器人崛起的影响：改变遗传学临床交付和研究。

Personalized medicine Pub Date : 2026-06-01 Epub Date: 2026-07-02 DOI: 10.1080/17410541.2026.2688147

Susanne B Haga, Meghan MacNeal

{"title":"The impact of the rise of the chatbots: transforming genetics clinical delivery and research.","authors":"Susanne B Haga, Meghan MacNeal","doi":"10.1080/17410541.2026.2688147","DOIUrl":"10.1080/17410541.2026.2688147","url":null,"abstract":"Aims: The rapid integration of genetics into clinical care and research has outpaced the supply of genetic professionals, creating persistent challenges in patient education, communication, and clinical follow-up. Chatbotsrepresent a scalable tool to address these gaps by supporting patient education, risk assessment, informed consent, return of results, and family communication.Methods: We conducted a scoping review of the literature on chatbots applied to genetics and genomics based on a PubMed search of the terms \"chatbot*\" AND \"genetic\" conducted on 26 January 2025.Results: From 35 eligible publications, we identified five primary applications of chatbots in genetics: (1) pre-testing and pre-counseling education; (2) family health history collection for risk assessment and triage; (3) informed consent for clinical or research testing; (4) facilitation of family communication and cascade testing; and (5) disease management. Reported benefits included improved patient knowledge, high usability and satisfaction, convenience, and the potential to streamline workflows and broaden access to services.Conclusions: While promising, challenges remain in ensuring content accuracy, addressing privacy and ethical concerns, and ensuring access and utilization. Future development should focus on culturally adaptive, user-centered design and rigorous evaluation to ensure safe, equitable, and effective integration of chatbots into clinical genetics and genomic research.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"235-246"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148371518","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

Predictive value of miR-132-3p for the onset of sepsis-induced acute kidney injury and its functional role during disease development. miR-132-3p对脓毒症诱导的急性肾损伤发病的预测价值及其在疾病发展中的功能作用

Personalized medicine Pub Date : 2026-06-01 Epub Date: 2026-05-27 DOI: 10.1080/17410541.2026.2678215

CaiHua Lan, MeiRong Shen, Jing Liao, Huan Yuan, Na Liu

{"title":"Predictive value of miR-132-3p for the onset of sepsis-induced acute kidney injury and its functional role during disease development.","authors":"CaiHua Lan, MeiRong Shen, Jing Liao, Huan Yuan, Na Liu","doi":"10.1080/17410541.2026.2678215","DOIUrl":"10.1080/17410541.2026.2678215","url":null,"abstract":"Background: Sepsis-induced acute kidney injury (SI-AKI) is a prevalent critical complication characterized by delayed early diagnosis, inadequate prognosis evaluation, and unclear pathogenesis. MicroRNAs (miRNAs) are promising SI-AKI biomarkers, yet their regulatory roles remain undefined.Objective: To clarify the diagnostic value and functional mechanism of miR-132-3p in SI-AKI.Methods: 208 sepsis patients were divided into SI-AKI (n = 108) and non-SI-AKI (n = 100) groups. Plasma/urine miR-132-3p levels were measured via qRT-PCR, with ROC curves and Logistic regression for diagnostic and risk factor analysis; KM curves and COX regression assessed 28-day prognosis. HK-2 cells were transfected with miR-132-3p mimics/inhibitors to assess cell proliferation, apoptosis, and inflammation; StarBase and dual-luciferase assays were used to verify target genes.Results: MiR-132-3p was significantly upregulated in patients with SI-AKI and served as an independent risk factor with diagnostic and prognostic value. In vitro, it inhibited HK-2 cell proliferation, promoted apoptosis and inflammation, and mediated SI-AKI progression by targeting ERBIN.Conclusion: miR-132-3p is a potential diagnostic/prognostic biomarker for SI-AKI, and regulates renal cell function via ERBIN to participate in SI-AKI pathogenesis.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"179-189"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148038798","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

Epigenetic and genetic insights for tailored therapeutic strategies in multiple sclerosis. 多发性硬化症定制治疗策略的表观遗传学和遗传学见解。

Personalized medicine Pub Date : 2026-06-01 Epub Date: 2026-06-03 DOI: 10.1080/17410541.2026.2678216

Aliakbar Mariki, Seyed Mohammad Mousavi, Kristi Anne Kohlmeier, Hoda Kamali, Mohammad Shabani

{"title":"Epigenetic and genetic insights for tailored therapeutic strategies in multiple sclerosis.","authors":"Aliakbar Mariki, Seyed Mohammad Mousavi, Kristi Anne Kohlmeier, Hoda Kamali, Mohammad Shabani","doi":"10.1080/17410541.2026.2678216","DOIUrl":"10.1080/17410541.2026.2678216","url":null,"abstract":"Multiple sclerosis (MS) is a complex neurological disorder with inflammation, demyelination, and neurodegeneration in the CNS. Disease-modifying therapies (DMTs) exist, but their efficacy is limited by MS's varied nature, highlighting the need for personalized treatments. From January 2009 to March 2025, a literature search across PubMed, Scopus, Web of Science, and Google Scholar identified over 200 multiple sclerosis (MS) genetic loci. HLA-DRB1*15:01 is a key genetic risk factor, alongside significant environmental contributors such as Epstein-Barr virus infection, smoking, and vitamin D deficiency. Epigenetic modifications, such as DNA methylation and non-coding RNAs, mediate the interaction between genetic predisposition and environmental factors. Altered methylation patterns in genes like FOXP3 and IL-10 disrupt immune regulation, exacerbating disease progression. Emerging biomarkers such as CHI3L1, miR-155, and IL-10 methylation patterns have shown potential for diagnosis and prognosis. Multi-omics strategies and artificial intelligence (AI) offer innovative solutions for integrating these biomarkers into clinical practice. Personalized therapy options, such as low-dose IL-2 and JAK-STAT pathway inhibitors, highlight the potential of precision medicine in enhancing treatment outcomes. This synthesis identifies inconsistencies and methodological limitations in current research, proposing a roadmap for pathway-specific therapies based on integrated genetic-epigenetic profiling.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"261-274"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148152850","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

Strengthening the evidence base for precision medicine through the utilization of real-world data and real-world evidence: a narrative review from the U.S. perspective. 通过利用真实世界数据和真实世界证据来加强精准医学的证据基础：从美国的角度进行叙述性回顾。

Personalized medicine Pub Date : 2026-06-01 Epub Date: 2026-05-23 DOI: 10.1080/17410541.2026.2678223

Emily Nagel, Youssef M Roman

{"title":"Strengthening the evidence base for precision medicine through the utilization of real-world data and real-world evidence: a narrative review from the U.S. perspective.","authors":"Emily Nagel, Youssef M Roman","doi":"10.1080/17410541.2026.2678223","DOIUrl":"10.1080/17410541.2026.2678223","url":null,"abstract":"The expansion of precision medicine has shifted toward individualized care tailored to a patient's genetic profile. While randomized controlled trials (RCTs) remain the gold standard for establishing efficacy, they often struggle to reflect the phenotypic diversity of patients in routine clinical practice. This paper explores the role of Real-World Data (RWD) and Real-World Evidence (RWE) in bridging this translational gap. A structured literature search identified peer-reviewed articles examining RWE applications in identifying rare genetic targets, informing clinical trial design, and supporting U.S. Food and Drug Administration (FDA) regulatory decisions. This review synthesizes recent regulatory advances through early 2026, including frameworks supporting the use of aggregated RWD that expand large-scale, multi-institutional evidence generation. RWE provides a scalable mechanism for identifying rare genetic variants and validating biomarker-driven therapies across heterogeneous patient populations while enabling longitudinal assessment of natural disease history and treatment safety. Operational successes in oncology, transplant medicine, and rare diseases demonstrate regulatory acceptance of RWE alongside critical challenges in data standardization, interoperability, and bias mitigation through causal inference frameworks, including target trial emulation. RWD and RWE serve as necessary complements to RCTs, providing the hybrid evidentiary framework needed to realize precision medicine's potential.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"247-259"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148007728","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

Association between microRNA 155 gene polymorphism and sporadic Parkinson's disease. microRNA 155基因多态性与散发性帕金森病的关系

Personalized medicine Pub Date : 2026-06-01 Epub Date: 2026-05-29 DOI: 10.1080/17410541.2026.2678221

Siwei Luo, Jinrong Li, Yu Zhang, Yue Zou

{"title":"Association between microRNA 155 gene polymorphism and sporadic Parkinson's disease.","authors":"Siwei Luo, Jinrong Li, Yu Zhang, Yue Zou","doi":"10.1080/17410541.2026.2678221","DOIUrl":"10.1080/17410541.2026.2678221","url":null,"abstract":"Introduction: The functional single nucleotide polymorphism (SNP) rs767649 in the miR-155 gene has been linked to other neurological disorders, but its association with sporadic Parkinson's disease (PD) remains unclear.Methods: The rs767649 SNP was genotyped via TaqMan assay. Serum miR-155 levels were measured by RT-qPCR. Statistical analyses included ROC analysis for assessing diagnostic value, Pearson correlation analysis with clinical scores (UPDRS-III, H-Y staging, MoCA), and logistic regression for identifying risk factors of PD.Results: The miR-155 rs767649 A allele served as a protective factor against PD, with AA homozygotes showing the lowest risk. The TT genotype was associated with elevated serum miR‑155, greater motor impairment (UPDRS‑III, H‑Y stage), and reduced cognitive function (MoCA) in PD patients when compared to TA or AA carriers. In PD patients, elevated serum miR-155 levels correlated with disease severity, distinguished patients from healthy controls, and emerged as an independent risk factor for PD.Conclusion: The miR-155 rs767649 polymorphism might affect PD susceptibility, and its A allele potentially exerted a protective effect against PD in Han Chinese population. Elevated miR-155 levels appear to be correlated with disease severity and may be an independent risk factor, suggesting its potential as a biomarker for PD diagnosis.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"191-198"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148059208","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

Deciphering the multi-organ anti-fibrotic mechanisms of pirfenidone and nintedanib via network pharmacology. 通过网络药理学解读吡非尼酮和尼达尼布的多器官抗纤维化机制。

Personalized medicine Pub Date : 2026-06-01 Epub Date: 2026-05-30 DOI: 10.1080/17410541.2026.2679985

Vishal S Patil, Chandragouda R Patil, Rohit Paul, Ashish Gaikwad, Khushbu Patil, Anoop Kumar

{"title":"Deciphering the multi-organ anti-fibrotic mechanisms of pirfenidone and nintedanib via network pharmacology.","authors":"Vishal S Patil, Chandragouda R Patil, Rohit Paul, Ashish Gaikwad, Khushbu Patil, Anoop Kumar","doi":"10.1080/17410541.2026.2679985","DOIUrl":"10.1080/17410541.2026.2679985","url":null,"abstract":"Background: Fibrosis is a systemic disorder driven by inflammation, immune imbalance, and extracellular matrix remodeling. Pirfenidone (PFD) and nintedanib (NTB), approved for idiopathic pulmonary fibrosis, may exert broader antifibrotic effects by modulating conserved fibrotic signaling pathways across multiple organs, including the heart, pancreas, lungs, liver, skin, intestine, bone marrow, eyes, and kidneys.Methods: Organ-specific fibrosis-related genes were retrieved from GeneCards, while drug-target data for PFD and NTB were collected from CTD, STITCH, KEGG, BindingDB, and TargetNet. Overlapping targets were subjected to pathway enrichment analysis using KEGG, Reactome, and WikiPathways.Results: 72 protein targets for PFD and 27 for NTB were identified after removal of duplicate targets. PFD showed common targets with cardiac-20, pancreatic-24, lung-38, liver-34, skin-29, intestine-23, bone marrow-43, eyes-18, and kidney fibrosis-30, while NTB showed 2, 6, 13, 6, 8, 5, 16, 4, and 3 targets, respectively. PFD regulates immune and fibrotic pathways beyond the lung (IL-17, TNF, HIF-1, TGF-β, and matrix metalloproteinase activation), which are relevant to hepatic, renal, and hematopoietic fibrosis. NTB modulated PI3K-Akt, MAPK, and Ras signaling in bone marrow, skin, and intestinal fibrosis.Conclusions: These findings suggest that PFD and NTB target key molecular pathways involved in multi-organ fibrosis, supporting their repurposing for fibrotic diseases beyond the lung.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"211-226"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148102466","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

Toward a harmonized assessment of MRD by NGS: blinded pilot study of NGS assays by MPAACT consortium. 迈向NGS对MRD的统一评估：由MPAACT联盟进行的NGS检测的盲法先导研究。

Personalized medicine Pub Date : 2026-06-01 Epub Date: 2026-06-08 DOI: 10.1080/17410541.2026.2682844

Vanessa Obourn, Shalaka Patel, Gonzalo Lopez, Sarah Hersey, Mark Stern, Habib Hamidi

{"title":"Toward a harmonized assessment of MRD by NGS: blinded pilot study of NGS assays by MPAACT consortium.","authors":"Vanessa Obourn, Shalaka Patel, Gonzalo Lopez, Sarah Hersey, Mark Stern, Habib Hamidi","doi":"10.1080/17410541.2026.2682844","DOIUrl":"10.1080/17410541.2026.2682844","url":null,"abstract":"Background: Measurable residual disease (MRD) is a key prognostic factor in acute myeloid leukemia (AML). The Measurable residual disease Partnership and Alliance in Acute Myeloid Leukemia Clinical Treatment (MPAACT) Consortium aims to accelerate AML therapy development by validating MRD as an early clinical trial endpoint within the regulatory framework. This blinded pilot study evaluated commercial next-generation sequencing (NGS) MRD assays to identify those meeting technical, regulatory, and quality criteria for development.Methods: Of 19 vendors meeting eligibility criteria, eight responded and seven assays from six vendors proceeded to blinded testing. Using 45 contrived DNA samples with variant allele frequencies (VAFs) from 0.1% to 15%, MPAACT evaluated sensitivity, specificity, reproducibility, accuracy, and dynamic range at 50 ng and 200 ng DNA inputs from vendor-submitted raw and annotated data.Results: Two assays were eliminated due to inadequate variant detection or gene coverage. Among the remaining five, sensitivity varied and none reliably detected VAFs <0.5%. Increased DNA input improved low-VAF detection but elevated false positives. Assays 3, 4, and 7 showed the strongest performance; Assay 7 had the lowest detection limit but higher false positives.Conclusions: Commercial NGS assay performance varied widely, particularly at low VAFs. Selected assays merit further optimization for MRD assessments.","PeriodicalId":94167,"journal":{"name":"Personalized medicine","volume":" ","pages":"227-234"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148201836","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