Expert Review of Molecular Diagnostics最新文献_第3页

Falling short? Mitigating equity gaps and demographic bias in AI-driven molecular diagnostics. 不足?缓解人工智能驱动的分子诊断中的公平差距和人口偏见。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-09-01 Epub Date: 2026-07-11 DOI: 10.1080/14737159.2026.2701359

Nils D Forkert

引用次数: 0

The expanding role of artificial intelligence in medical diagnosis: from molecular diagnostics and multi-omics to digital health and medical imaging. 人工智能在医学诊断中的作用日益扩大：从分子诊断和多组学到数字健康和医学成像。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-09-01 Epub Date: 2026-07-22 DOI: 10.1080/14737159.2026.2706000

Aghdas Ramezani, Marzieh Bagheri, Fatemeh Mahmoudian, Fahimeh Fattahi, Faezeh Noorabad Ghahroodi, Pourya Nasirmoghadas, Navid Pourzardosht, Bahman Khalesi, Zahra Sadat Hashemi, Saeed Khalili

{"title":"The expanding role of artificial intelligence in medical diagnosis: from molecular diagnostics and multi-omics to digital health and medical imaging.","authors":"Aghdas Ramezani, Marzieh Bagheri, Fatemeh Mahmoudian, Fahimeh Fattahi, Faezeh Noorabad Ghahroodi, Pourya Nasirmoghadas, Navid Pourzardosht, Bahman Khalesi, Zahra Sadat Hashemi, Saeed Khalili","doi":"10.1080/14737159.2026.2706000","DOIUrl":"10.1080/14737159.2026.2706000","url":null,"abstract":"Introduction: The use of Artificial Intelligence (AI), especially Machine learning (ML) and Deep learning (DL), has led to a major shift in medical diagnosis. AI can assist medical professionals in medical diagnosis by its unique ability to analyze complex data from multiple sources, including medical images, gene sequences, and Electronic Health Records (EHRs).Areas covered: Its application in other clinical processes, such as risk classification, diagnostic workflows, and disease risk prediction from patient symptoms, can also speed up diagnosis, reduce costs, and improve diagnostic outcomes.Expert opinion: However, its effective use in the clinic necessitates addressing concerns about data privacy, rigorous validation, and the development of methods to reduce bias caused by medical data. By addressing these limitations, AI can be very effective in increasing medical professionals' knowledge and, consequently, improving patient outcomes.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"755-774"},"PeriodicalIF":4.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148469743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

What's in a name: the potential impact of the updated terminology of polyendocrine metabolic ovarian syndrome (PMOS). 名字的意义：多内分泌代谢性卵巢综合征（PMOS）最新术语的潜在影响。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-09-01 Epub Date: 2026-07-17 DOI: 10.1080/14737159.2026.2705467

Fernando M Reis, Izabelle G A Vidigal, José Luis Elizarraras, Fabio V Comim

{"title":"What's in a name: the potential impact of the updated terminology of polyendocrine metabolic ovarian syndrome (PMOS).","authors":"Fernando M Reis, Izabelle G A Vidigal, José Luis Elizarraras, Fabio V Comim","doi":"10.1080/14737159.2026.2705467","DOIUrl":"10.1080/14737159.2026.2705467","url":null,"abstract":"Introduction: Polycystic ovary syndrome (PCOS) was recently renamed polyendocrine metabolic ovarian syndrome (PMOS).Areas covered: We review the renaming process, the potential advantages, and the challenges associated with this global effort. A large consortium of experts and patient representatives debated whether renaming was justified, what principles should guide a new name, and how such a change could be implemented without disrupting clinical care, research, education, or patient communication. Surveys indicated that awareness of the broader features of the syndrome improved in the last years after dissemination strategies and patient advocacy initiatives, but important gaps remained, particularly around the risk of comorbidities.Expert opinion: New perspectives emerge with renaming PCOS into PMOS after a carefully planned effort to improve scientific accuracy, patient understanding, and clinical communication while minimizing confusion during implementation. The new terminology emphasizes the syndrome's endocrine and metabolic nature and removes the misleading reference to 'polycystic' ovaries. Similar to previous successful nomenclature updates in gynecology, this gradual transition aims to enhance education, interdisciplinary care, research, and long-term management, ultimately supporting more accurate diagnosis and improved patient outcomes.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"733-737"},"PeriodicalIF":4.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148445201","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Small steps, quick wins: optimizing clinical diagnostic stewardship in the era of complex diagnostics. 小步快赢：在复杂诊断时代优化临床诊断管理。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-31 DOI: 10.1080/14737159.2026.2726949

Tristan T Timbrook

引用次数: 0

Salivary biomarkers as a non-invasive diagnostic tool for gastric cancer: a systematic review and meta-analysis. 唾液生物标志物作为胃癌非侵入性诊断工具：一项系统综述和荟萃分析。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-26 DOI: 10.1080/14737159.2026.2725657

Francisco Cezar Aquino de Moraes, Gustavo Tadeu Freitas Uchôa Matheus, Luis Henrique Rios Moreira Rego, Erick Nelo Pedreira, Elizabeth Suchi Chen, Rommel Mario Rodriguez Burbano

{"title":"Salivary biomarkers as a non-invasive diagnostic tool for gastric cancer: a systematic review and meta-analysis.","authors":"Francisco Cezar Aquino de Moraes, Gustavo Tadeu Freitas Uchôa Matheus, Luis Henrique Rios Moreira Rego, Erick Nelo Pedreira, Elizabeth Suchi Chen, Rommel Mario Rodriguez Burbano","doi":"10.1080/14737159.2026.2725657","DOIUrl":"https://doi.org/10.1080/14737159.2026.2725657","url":null,"abstract":"Background: Gastric cancer (GC) remains a leading cause of cancer-related mortality worldwide, with an average survival of just 12 months. Its aggressive nature and nonspecific symptoms often lead to late-stage diagnosis. Current diagnostic methods rely heavily on esophagogastroduodenoscopy, which is invasive and costly. Saliva-based biomarkers have emerged as a promising noninvasive approach for GC diagnosis, although their clinical applicability remains uncertain.Research design and methods: We performed a systematic search in PubMed, Scopus, and Web of Science to identify studies evaluating saliva-based diagnostics for GC. Pooled sensitivity and specificity were calculated with 95% confidence intervals using RStudio version 4.2.3.Results: Eleven studies involving 1,119 patients (760 with GC) were included. In the GC group 63.8% were male and biomarkers vary between studies. The pooled sensitivity was 86.3% (95% CI: 0.76-0.93; I2 = 82%), and specificity was 85.5% (95% CI: 0.79-0.91; I2 = 19%). The summary ROC curve had an AUC of 87.6%, with a normalized partial AUC of 67.2%.Conclusion: Salivary biomarkers show strong potential for noninvasive GC early detection. Which represents a significant opportunity to change the natural history of gastric cancer. However, due to significant variability in biomarkers utilized, more homogenous studies are needed to better address the question.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148826428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Navigating PD-L1 testing in immuno-oncology: analytical robustness, clinical validation, and the role of the VENTANA SP263 assay. 在免疫肿瘤学中导航PD-L1检测：分析稳健性、临床验证和VENTANA SP263检测的作用

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-01 Epub Date: 2026-06-29 DOI: 10.1080/14737159.2026.2695788

Giuseppe D'Abbronzo, Stefano Lucà, Alessandro Cioce, Anna Diluvio, Pasquale Cretella, Maria Cristina Sibillo, Cecilia Salzillo, Valeria Masola, Renato Franco

{"title":"Navigating PD-L1 testing in immuno-oncology: analytical robustness, clinical validation, and the role of the VENTANA SP263 assay.","authors":"Giuseppe D'Abbronzo, Stefano Lucà, Alessandro Cioce, Anna Diluvio, Pasquale Cretella, Maria Cristina Sibillo, Cecilia Salzillo, Valeria Masola, Renato Franco","doi":"10.1080/14737159.2026.2695788","DOIUrl":"10.1080/14737159.2026.2695788","url":null,"abstract":"Introduction: PD-L1 expression today represents a crucial biomarker in the selection of patients eligible for immune checkpoint inhibitor therapies (PD-1/PD-L1), particularly in tumors such as NSCLC, urothelial carcinoma, and TNBC. Its role in modulating immune response and the tumor microenvironment makes this topic of growing relevance in clinical oncological practice.Areas covered: This review examines the most recent literature on histological and plasma PD-L1 expression, comparative studies between antibodies and IHC cutoffs, integration of liquid biopsy and new biomarkers (e.g. CPS, ctDNA). A targeted literature search was conducted using PubMed/MEDLINE, Scopus, and Web of Science, covering publications from January 2010 to March 2025. Meta-analyses and clinical studies related to TNBC, NSCLC, and urothelial carcinoma are included, with insights into therapeutic resistance and combination strategies.Expert opinion: While SP263 demonstrates strong analytical performance and reproducibility, analytical concordance does not equate to clinical interchangeability. PD-L1 testing should remain assay-, tissue-, and indication-specific, supported by regulatory approval and clinical outcome data. Future integration of digital tools and multimodal biomarkers may improve standardization and predictive accuracy.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"643-656"},"PeriodicalIF":4.3,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148316518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Genomic profiling as an option for ovarian cancer diagnostics. 基因组分析作为卵巢癌诊断的一种选择。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-01 Epub Date: 2026-07-21 DOI: 10.1080/14737159.2026.2700342

Elisa De Paolis, Giuseppina Raspaglio, Marta De Donato, Eugenia Tulli, Ilaria Mattei, Angelo Minucci

{"title":"Genomic profiling as an option for ovarian cancer diagnostics.","authors":"Elisa De Paolis, Giuseppina Raspaglio, Marta De Donato, Eugenia Tulli, Ilaria Mattei, Angelo Minucci","doi":"10.1080/14737159.2026.2700342","DOIUrl":"10.1080/14737159.2026.2700342","url":null,"abstract":"Introduction: Ovarian cancer (OC) is a highly heterogeneous and lethal gynecological malignancy. Precision oncology has shifted the management paradigm to comprehensive molecular profiling. Genomic-based diagnostics are now a clinical necessity for accurate prognostic stratification and the rational selection of targeted therapeutics, such as PARP and immune checkpoint inhibitors.Areas covered: This review evaluates current literature regarding the distinct genomic landscapes defining OC histotypes to underlined the role of molecular profiling in the diagnostic field of OC. We discuss the practical implementation, technical aspect, and clinical validity of the main molecular diagnostic platforms, focusing on tissue-based Comprehensive Genomic Profiling (CGP) and Homologous Recombination Deficiency (HRD). Furthermore, we explore emerging translational data on liquid biopsy (LBx) applications.Expert opinion: While current tissue-based methodologies provide critical baseline data, the OC diagnostic paradigm must pivot from static testing to proactive and longitudinal tracking. Integrating advanced LBx approaches enables a real-time monitoring of dynamic parameters as minimal residual disease (MRD) and acquired resistance. Integrating these dynamic blood-based assays with multi-omic profiling and artificial intelligence (AI)-driven tools allows a full understanding of the complex tumor behavior.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"681-694"},"PeriodicalIF":4.3,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148411002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Extracellular vesicles as diagnostic and prognostic biomarkers in non-small cell lung cancer. 细胞外囊泡作为非小细胞肺癌诊断和预后的生物标志物。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-01 Epub Date: 2026-06-23 DOI: 10.1080/14737159.2026.2693700

Shayista Akbar, Queenie Fernandes, Zeenath Safira Khaja Mohamed Yoosuf, Reem Elasad, Laila Assami, Karama Makni-Maalej, Varghese Inchakalody, Mariam Al-Muftah, Shahab Uddin, Maysaloun Merhi, Aamir Ahmad, Said Dermime

{"title":"Extracellular vesicles as diagnostic and prognostic biomarkers in non-small cell lung cancer.","authors":"Shayista Akbar, Queenie Fernandes, Zeenath Safira Khaja Mohamed Yoosuf, Reem Elasad, Laila Assami, Karama Makni-Maalej, Varghese Inchakalody, Mariam Al-Muftah, Shahab Uddin, Maysaloun Merhi, Aamir Ahmad, Said Dermime","doi":"10.1080/14737159.2026.2693700","DOIUrl":"10.1080/14737159.2026.2693700","url":null,"abstract":"Introduction: Non-small cell lung cancer (NSCLC) remains the leading cause of cancer-related mortality worldwide, largely due to late-stage diagnosis and limited availability of reliable biomarkers. Extracellular vesicles (EVs) are membrane-bound nanoparticles released by cells that carry nucleic acids, proteins, and lipids reflective of their cellular origin. Their stability and accessibility through minimally invasive sampling make them promising liquid biopsy biomarkers.Areas covered: This review summarizes current evidence supporting EVs as diagnostic and prognostic biomarkers in NSCLC. We discuss the clinical relevance of EV-associated molecular signatures, including miRNAs, other non-coding RNAs, and proteins, in early detection, disease stratification, and outcome prediction. Recent advances in EV isolation and characterization technologies, particularly microfluidic and high-throughput platforms, are highlighted. We also examine key barriers to clinical translation, including biological heterogeneity, methodological variability, and the lack of standardized protocols.Expert opinion: EVs have the potential to transform NSCLC management by enabling minimally invasive diagnosis, real-time disease monitoring, and personalized treatment strategies. However, widespread clinical implementation requires standardized methodologies, improved tumor-specific EV enrichment, and large-scale validation studies. Future integration of multi-omics, artificial intelligence, and advanced detection technologies is expected to enhance biomarker performance and facilitate the incorporation of EV-based liquid biopsy approaches into precision oncology.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"667-679"},"PeriodicalIF":4.3,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148294037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Bacterial respiratory infections in children: advances in diagnostic strategies. 细菌性呼吸道感染：诊断策略的进展。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-01 Epub Date: 2026-07-04 DOI: 10.1080/14737159.2026.2698808

Carolina Gentili, Patrick M Meyer Sauteur, Danilo Buonsenso

{"title":"Bacterial respiratory infections in children: advances in diagnostic strategies.","authors":"Carolina Gentili, Patrick M Meyer Sauteur, Danilo Buonsenso","doi":"10.1080/14737159.2026.2698808","DOIUrl":"10.1080/14737159.2026.2698808","url":null,"abstract":"Introduction: Respiratory tract infections (RTIs) are among the most common causes of medical consultation in children. Although the majority of upper respiratory tract infections are viral and self-limiting, bacterial pathogens remain responsible for a relevant proportion of cases and may require targeted antimicrobial therapy. Accurate microbiological diagnosis is therefore essential to guide clinical management and support antimicrobial stewardship.Areas covered: This review discusses the etiology and clinical presentation of pediatric respiratory infections and examines current diagnostic approaches, including traditional culture-based methods and nucleic acid amplification tests (NAATs). The advantages of molecular diagnostics-such as rapid turnaround time, high sensitivity, and improved pathogen detection-are highlighted alongside their role in antimicrobial stewardship and public health surveillance. At the same time, important limitations are explored, including difficulties in distinguishing colonization from active infection, challenges in polymicrobial detection, absence of host-response information, and barriers related to cost and accessibility. Emerging technologies and future perspectives in pediatric molecular diagnostics are also addressed.Expert opinion: While molecular diagnostics have transformed pathogen detection, their clinical interpretation remains complex. Future diagnostic strategies should integrate molecular data with quantitative pathogen measurements, host-response biomarkers, and clinical phenotyping to better distinguish infection from colonization. Interdisciplinary research, real-world implementation studies, and cost-effectiveness evaluations will be essential to translate technological advances into meaningful improvements in pediatric infectious disease care.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"657-665"},"PeriodicalIF":4.3,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148381820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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 molecular diagnostics for pandemic preparedness. 大流行预防中的分子诊断中的人工智能。

IF 4.3 3区医学

Expert Review of Molecular Diagnostics Pub Date : 2026-08-01 Epub Date: 2026-07-06 DOI: 10.1080/14737159.2026.2697900

Ketul Sagar, Disha Mukherjee, Behrouz Alizadeh Savareh, Cheikh Talibouya Toure, Arianna Ceruti, Prakash Ghosh, Manfred Weidmann, Uwe Truyen, Ahmed Abd El Wahed, Rea Maja Kobialka

{"title":"Artificial intelligence in molecular diagnostics for pandemic preparedness.","authors":"Ketul Sagar, Disha Mukherjee, Behrouz Alizadeh Savareh, Cheikh Talibouya Toure, Arianna Ceruti, Prakash Ghosh, Manfred Weidmann, Uwe Truyen, Ahmed Abd El Wahed, Rea Maja Kobialka","doi":"10.1080/14737159.2026.2697900","DOIUrl":"10.1080/14737159.2026.2697900","url":null,"abstract":"Introduction: Molecular diagnostics focusing on the detection and analysis of nucleic acids are indispensable tools for early pathogen identification, transmission monitoring, and genomic surveillance during pandemics. Recent technological advances have broadened the diagnostic landscape, incorporating PCR-based methods, isothermal amplification, high-CRISPR-based amplification detection, and sequencing. Despite their diagnostic potential, widespread implementation remains limited by high validation costs, time and logistical constraints, the need for specialized professional knowledge, and a lack of adaptability in resource-limited settings. Artificial intelligence (AI) is increasingly recognized as a promising but challenging approach, offering tools that streamline assay development, automate data interpretation, and optimize real-time diagnostic performance.Areas covered: This review introduces recently published AI tools with potential to enhance the in-silico design validation process of oligonucleotides for molecular assays. These cover tools for initial assay design and optimization to validation and continuous assay updates. The limitations, including concerns regarding data accuracy, the lack of transparency in data processing ('black box' models), and unresolved licensing and regulatory issues, are highlighted for each tool and as expert opinion.Expert opinion: Collectively, these challenges currently confine most AI-based approaches to research settings and prevent their routine implementation in clinical molecular diagnostics. Their widespread adoption depends on addressing remaining technical, regulatory, and practical challenges.","PeriodicalId":12113,"journal":{"name":"Expert Review of Molecular Diagnostics","volume":" ","pages":"709-718"},"PeriodicalIF":4.3,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148374951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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