Expert Review of Molecular Diagnostics最新文献

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: 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: 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.

Introduction: Invasive fungal diseases (IFDs) are a serious threat to immunocompromised patients. Routine diagnostic methods have limited performance in identifying IFDs. Next-generation sequencing (NGS), including metagenomic NGS (mNGS) and whole-genome sequencing (WGS), recently emerged as diagnostic methods that could provide more accurate and timely diagnoses and management of IFDs.

Areas covered: This article describes the emergence of NGS as a diagnostic tool to address the limitations of current tests. The literature regarding its application and clinical utility in the diagnosis of IFDs is reviewed. Practical considerations, challenges, and opportunities as they relate to the development and implementation of mNGS and WGS for fungal pathogens are discussed.

Expert opinion: NGS emerged over a decade ago with the potential to solve many of the challenges in diagnosing infectious diseases, including IFDs. However, published literature has yielded conflicting data about its clinical utility. The increased clinical adoption of NGS is improving our understanding of how to interpret and use its results to guide actionable decisions. Still, several gaps remain. As the cost, effort, and expertise involved in performing NGS decrease and the reporting of its results becomes standardized, NGS is poised to fill current gaps in the diagnosis of IFDs.

Introduction: Overexpression of tribbles homolog 3 (TRIB3) has been reported in various cancers, yet its clinical significance remains contentious. This study aims to elucidate the association between TRIB3 overexpression and the progression and prognosis of solid tumors.

Methods: A comprehensive analysis was conducted using data from published studies and The Cancer Genome Atlas (TCGA) up to May 2023. We evaluated the impact of high TRIB3 expression on tumor malignancy and survival outcomes across different cancer types.

Results: Seventeen studies met the inclusion criteria. Our findings revealed that TRIB3 overexpression is significantly associated with increased distant metastasis (OR = 4.01, 95% CI: 2.36-6.74, p < 0.001) and advanced histological stage (OR = 2.68, 95% CI: 1.50-4.78, p < 0.001). Additionally, high TRIB3 expression significantly elevated the risk of reduced overall survival (OS) in cancer patients (HR = 1.52, 95% CI: 1.05-2.20, p < 0.001), indicating a poor prognosis. Analyses of TCGA data among various prognostic indicators corroborated these findings.

Conclusions: TRIB3 overexpression is significantly linked to malignant progression and unfavorable prognosis in diverse solid tumors. These results suggest that TRIB3 holds promise as a biomarker and therapeutic target in human cancers.