Expert Review of Molecular Diagnostics最新文献

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

Areas covered: Potential of prognostic and predictive bacterial biomarkers in non-GI solid tumors and the methodologies used.

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

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.

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: 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: 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: Cancer ranks as the second most prevalent cause of death worldwide, responsible for approximately 9.6 million deaths annually. Approximately one out of every six deaths is caused by cancer. About 80% of cancer deals with epithelial tissues located on the outer lines of the body cavity.

Areas covered: This review study selected and analyzed recent works in the field of High Resolution Microendoscopy (HRME) that have been used to diagnose cancer in various organs such as cervical, esophageal, head & neck, and gastrointestinal.

Expert opinion: The HRME modality will play a vital role in improving the diagnostic accuracy of carcinoma. HRME has shown promising statistical outcomes for diagnosing carcinoma, enabling the clinician to gain additional information before performing conventional tissue biopsy. A multimodal probe consisting of a macroscopic investigation aided by HRME modality for microscopic investigation can significantly reduce the number of unnecessary biopsies leading to overall improvement in patient wellness. The new directions of the HRME research would be in the light source and detection configuration, increasing the number of optical fiber cores, which improves the resolution of the image, AI-assisted automatic quantification of the key HRME parameters, and clinical studies with newer near-infrared regime-based contrast agents.

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: Rapid and accurate detection of group A streptococcus (GAS) pharyngitis allows for timely initiation of appropriate antibiotic treatment. This is important to prevent empiric antibiotic overuse while simultaneously lowering the risk of post-infection sequelae. Timely treatment may also reduce forward transmission, which could prevent cases of devastating invasive infections. The need for timely and accurate diagnosis of GAS pharyngitis has created an ideal environment for molecular diagnostic (MDx) testing. The high sensitivity of MDx tests mean no culture confirmation is required for negative results in most situations, and several MDx tests are approved for point-of-care (PoC) use. As such, MDx technology can lower the barriers to treatment in remote areas of high incidence, where resources are limited. We believe it is time for widespread adoption of MDx testing for GAS pharyngitis.

Areas covered: Here, we highlight the advantages of MDx GAS pharyngitis testing and discuss challenges to implementation - as well as solutions to these challenges.

Expert opinion: In the face of increased GAS-induced disease following the end of the COVID-19 pandemic, evidence supporting the clinical validity and cost-effectiveness of MDx testing for GAS pharyngitis continues to grow. Although hurdles to implementation exist, broad-based implementation of this technology is within practical reach.

Introduction: Decentralized molecular testing for infectious disease diagnosis at the point-of-care (POC) is critical to address inequities in access to timely, informed health care. The COVID-19 pandemic accelerated the demand, development and adoption of POC tests for infectious diseases globally. This has provided opportunities to maximize the individual benefits and public health impact of POC testing, particularly in remote and resource-limited primary care settings. Despite this, there remains a lack of harmonized, regulatory compliance and quality management frameworks for the delivery of molecular POC testing networks outside the laboratory setting.

Areas covered: This Perspective describes real-world lessons and experiences of delivering a fit-for-purpose, quality framework for one of the world's largest decentralized molecular POC testing programs for infectious disease across rural and remote Australian communities. Here we detail unique, key considerations to ensure the quality of POC testing in primary health settings with global application.

Expert opinion: There is an ethical and public health imperative to provide sustained access to decentralized POC testing for infectious disease in primary care. Genuine partnerships across stakeholders and disciplines are essential to deliver well governed, fit-for-purpose quality management POC testing frameworks and increase equitable access to timely, high-quality person-centered care.

Introduction: The liquid biopsy is a breakthrough in the field of medical diagnostics. It serves as a sentinel that can quietly detect even the subtlest aberrations that indicate the presence of disease. They make it possible to uncover relevant genetic factors of tumors with minimal to no risk to cancer patients. Liquid biopsies allow detailed diagnosis, dynamic treatment monitoring, and accurate prognosis. They are also invaluable in diagnosing other diseases such as infectious diseases and aberrant gene mutations.

Areas covered: The present review undertakes an in-depth analysis of the existing status of liquid biopsy diagnostic tools, focusing on their principal components. Furthermore, the review highlights pertinent and recent research in this field to provide a comprehensive understanding of the current state of this technology and its prospects.

Expert opinion: Despite new and upcoming research in liquid biopsies, multiple areas need to be further explored before the viable transition into the clinical arena. With the advancements in tools such as artificial intelligence and machine learning and the integration of these technologies with liquid biopsies, these challenges are being addressed and will eventually lead to the development of a highly evolved liquid biopsy diagnostic tools.