Expert Review of Molecular Diagnostics最新文献

Introduction: Standard clinical parameters like tumorsize, age, lymph node status, and molecular markers are used to predictprogression risk and treatment response. However, exploring additional markersthat reflect underlying biology could offer a more comprehensive understandingof the tumor microenvironment (TME). The TME influences tumor development,progression, disease severity, and survival, with tumor-associated bacteriaposited to play significant roles. Studies on tumor-associated microbiota havefocused on high bacterial-load sites such as the gut, oral cavity, and stomach,but interest is growing in non-gastrointestinal (GI) solid tumors, such asbreast, lung, and pancreas. Microbe-based biomarkers, including Helicobacter pylori, humanpapillomavirus (HPV), and hepatitis B and C viruses, have proven valuable inpredicting gastric, cervical, and renal cancers.

Areas covered: Potential of prognostic andpredictive bacterial biomarkers in non-GI solid tumors and the methodologiesused.

Expert opinion: Advances in techniques like 16SrRNA gene sequencing, qPCR, immunostaining, and in situ hybridization have enabled detailed analysis ofdifficult-to-culture microbes in solid tumors. However, to ensure reliableresults, it is critical to standardize protocols, accurately align reads,address contamination, and maintain proper sample handling. This will pave theway for developing reliable bacterial markers that enhance prognosis,prediction, and personalized treatment planning.

Introduction: This special report highlights the transformative potential of advanced diagnostic technologies in modern healthcare, emphasizing their role in enhancing disease detection, treatment personalization, and patient outcomes.

Areas covered: Innovations such as Next-Generation Sequencing (NGS), liquid biopsy, Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) -based diagnostics, Point-of-Care (PoC) testing, microbiome analysis, and Artificial Intelligence are reshaping the diagnostic landscape. These methods facilitate early identification of diseases, enable tailored therapies based on individual genetic profiles, and provide noninvasive monitoring options. Furthermore, telemedicine enhances access to care while reducing costs associated with traditional healthcare delivery. Despite these advancements, challenges remain regarding regulatory compliance, data privacy concerns, and disparities in access to diagnostic services. The report underscores the need for ongoing collaboration among stakeholders to address these limitations effectively.

Expert opinion: By prioritizing equitable access and continuously evaluating emerging technologies' impact on patient safety and health outcomes, the healthcare system can harness the full potential of modern diagnostics to improve global health.

Introduction: Non-Celiac Gluten Sensitivity (NCGS) is a common disorder characterized by symptoms resembling those of irritable bowel syndrome. In recent years there has been progress in the understanding of the pathogenic pathways and data suggest that NCGS has a distinct immunological profile that differs from celiac disease (CeD). This has fostered the search for a specific biomarker of NCGS.

Areas covered: In this review we will firstly update on pioneer NCGS diagnostic tools, particularly the gluten challenge, serum IgG class antigliadin antibodies, and certain histological characteristics seen at the small intestinal biopsy. Then we will examine the most recent research on potential biomarkers of NCGS, specifically focusing on markers of damage to enterocytes, of translocation of bacteria from the gut into the bloodstream, intestinal permeability, and inflammation.

Expert opinion: So far, no specific biomarker of NCGS has been detected. The diagnosis of NCGS still relies on clinical criteria. A gluten challenge may be useful for diagnostic purposes, however a strong nocebo effect limits the efficacy of this procedure. Additional investigation is necessary to identify biomarkers for NCGS, that may be useful to investigate the epidemiology, clinical spectrum, and natural history of this common disorder.

Introduction: Rapid and accurate laboratory diagnosis is essential for the effective treatment of bloodstream infection (BSI).

Areas covered: This review aims to address novel and traditional approaches that exhibit different performance characteristics in the diagnosis of BSI. In particular, the authors will discuss the pros and cons of the blood culture-based phenotypic methods, nucleic acid-targeted molecular methods, and host response-targeted biomarker detection in the diagnosis of BSI.

Expert opinion: This manuscript summarizes etiologic and host-based techniques in the diagnosis of BSI. Both methods are not mutually exclusive but should be selected based on clinical needs and laboratory conditions to help diagnose BSI more quickly and accurately.

Introduction: Chlamydia trachomatis continues to be the most common bacterial infection worldwide and rates continue to increase despite long-standing control efforts. Point of care (POC) testing options may offer improvements in case finding that lead to improved control of this sexually transmitted infection (STI).

Areas covered: This review will provide information on the three tests that have US Food and Drug Administration (FDA) clearance and describe assays in the developmental pipeline. The review will also provide implementation evaluations of the existing tests and offer suggestions about factors to consider prior to adoption of these or newer tests as they become available.

Expert opinion: Technology is developing rapidly and may soon offer many choices of rapid diagnostic tools which can be used in clinical settings to detect chlamydial infections, particularly in underserved populations. The key to successful deployment of new tests will rest on data generated by implementation research to identify the features that create barriers or facilitate adoption of a new clinical paradigm.

Introduction: Gestational trophoblastic disease (GTD) encompasses a constellation of rare to common gynecologic conditions stemming from aberrant gestations with distinct genetic backgrounds and variable degrees of trophoblast proliferation of either neoplastic or non-neoplastic nature. GTD is categorized into hydatidiform moles and gestational trophoblastic neoplasms, and their clinical outcomes vary widely across different subtypes. Prompt and accurate diagnosis plays a pivotal role in the effective management and prognostication of patients. Short tandem repeats (STRs) are repetitive DNA sequences dispersed throughout the human genome and inherit a tremendous genetic polymorphism among individuals. Widely recognized for its applications in forensic identity and paternity testing, the relevance of STR genotyping in the diagnosis of GTD has emerged as an essential ancillary test in the classification and management of GTD of both non-neoplastic hydatidiform moles and gestational trophoblastic tumors.

Area covered: This review discusses fundamental principles, laboratory operation, and diagnostic interpretations of STR genotyping in the context of diagnosis and differential diagnosis of GTD. PubMed was searched for all references up to 2024.

Expert opinion: STR genotyping is the gold standard in the diagnosis and subclassification of hydatidiform moles and has an important application in diagnostic workup and risk stratifications of gestational trophoblastic tumors as well.

Introduction: Fibromyalgia is a common pain disorder with features of widespread musculoskeletal pain, fatigue, disrupted sleep, cognitive dysfunction, autonomic dysfunction, and mood disorders. Despite its high prevalence and significant impact on quality of life, the diagnosis and management of fibromyalgia remain challenging. Advancements in classification and diagnostics in broad areas have improved our understanding and treatment approach for this condition. We culminate with a discussion of future directions for research into early diagnostics in fibromyalgia.

Areas covered: This perspective examines the current landscape of fibromyalgia biomarker discovery, highlighting challenges that must be addressed and opportunities that are presented as the field evolves.

Expert opinion: Advances in fibromyalgia diagnostics provide an opportunity to dramatically reduce the cost burden placed on health resources for fibromyalgia once we have discovered a reliable reproducible biomarker that is widely accepted among practitioners and patients. Promising results in a number of fields may lead to point of care technologies that will be applicable in the office or bedside without the need for transport to specialized centers. Future research should focus on integrating these various diagnostic approaches to develop a comprehensive, multi-modal diagnostic tool for fibromyalgia.