Expert Review of Molecular Diagnostics最新文献

Introduction: In order to improve illness identification, monitoring, and patient outcomes, this special report emphasizes the revolutionary potential of fluid and imaging biomarkers using new diagnostic technologies in Multiple system atrophy (MSA).

Areas covered: Innovations like multiplex seeding aggregation assays (SAA), 18FDG-Positron Emission Tomography (PET), and SPECT) are changing the diagnostic landscape. These techniques make it easier to detect MSA early and offer noninvasive monitoring choices. Although neurofilament light chain measurements in blood and cerebrospinal fluid (CSF), as well as α-synuclein-based diagnostic biomarkers in CSF, are recognized as both diagnostic and surrogatemarkers of disease progression in MSA, their application in clinical practiceis limited to research. Some efforts are being made in the development ofselective α- synucleinPET tracers despite numerous barriers in visualizing intracellular localization of α-synuclein. The primary drawbacks include the high expense of SAA and imaging technologies, the paucity of multicenter longitudinal investigations, and the lack of uniformity of the prοtocols. The research highlights that to successfully solve these restrictions, stakeholders must continue to collaborate.

Expert opinion: A multi-dimensional biomarker system of MSA patients maximizes the power of contemporary diagnostics to enhance MSA care by prioritizing the ongoing evaluation of multi-omics data.

Introduction: Cervical cancer remains a significant global health challenge despite decades of progress in screening and prevention. Global cervical cancer screening practices vary substantially, with many countries still relying on cytology-based methods, despite evidence supporting the superior performance of human papillomavirus (HPV)-based screening.

Areas covered: This review explores the historical evolution as well as current landscape and policies of cervical cancer screening, with a focus on Western countries. We discuss the gradual transition from cytology to HPV DNA testing as the primary screening method, while recognizing the continuing role of cytology as a triage method. We also argue that HPV vaccination will have a transformative impact on screening practices, necessitating the need for adapting screening strategies to a post-vaccination world.

Expert opinion: The role of cytology in cervical cancer screening will become increasingly limited due to its diminished effectiveness post-HPV vaccination, as many abnormal cytology results will likely be false positives. This could lead to unnecessary procedures, underscoring the need for adjustments in screening strategies and HPV testing to align with the fact that cervical precancerous lesions will become exceedingly rare.

Introduction: Breast cancer remains a major global health challenge. While advances in precision oncology have contributed to improvements in patient outcomes and provided a deeper understanding of the biological mechanisms that drive the disease, historically, research and patients' allocation to treatment have heavily relied on single-omic approaches, analyzing individual molecular dimensions such as genomics, transcriptomics, or proteomics. While these have provided deep insights into breast cancer biology, they often fail to offer a complete understanding of the disease's complex molecular landscape.

Areas covered: In this review, the authors explore the recent advancements in multi-omic research in the realm of breast cancer and use clinical data to show how multi-omic integration can offer a more holistic understanding of the molecular alterations and their functional consequences underlying breast cancer.

Expert opinion: The overall developments in multi-omic research and AI are expected to complement precision diagnostics through potentially refining prognostic models, and treatment selection. Overcoming challenges such as cost, data complexity, and lack of standardization is crucial for unlocking the full potential of multi-omics and AI in breast cancer patient care to enable the advancement of personalized treatments and improve patient outcomes.

Background: Immune checkpoint inhibitors (ICIs) have transformed the treatment landscape for solid tumors, offering substantial survival benefits. Despite this progress, many patients do not achieve durable responses, highlighting the need for novel prognostic biomarkers. This study investigates the association between serum sodium levels and survival outcomes in patients treated with ICIs.

Research design and methods: We conducted a retrospective cohort study involving 509 patients with metastatic solid tumors treated with ICIs. We assessed overall survival (OS), progression-free survival (PFS), and response rates using Kaplan-Meier survival analysis and multivariate cox regression analysis.

Results: The median age was 62 years (interquartile range (IQR): 54-69), and 76.6% of the patients were male. Multivariate analysis revealed that serum sodium levels between 135-140 mmol/L were an independent predictor of improved OS (HR: 0.58; 95% CI: 0.44-0.77) and PFS (HR: 0.76; 95%CI: 0.58-0.99) and those with levels > 140 mmol/L had an even lower HR of 0.43 (95% CI:0.31-0.62) for OS and HR of 0.62 (95% CI:0.45-0.86) for PFS.

Conclusion: This study highlights that ICI-treated patients with higher sodium levels had significantly better OS, PFS, and anti-tumor responses. Baseline serum sodium levels could be cost-effective and valuable predictive biomarker for ICIs across diverse tumor types and ICI agents.

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: Comprehensive genomic profiling (CGP) is gaining ground in modern precision oncology for its ability to potentially analyze multiple tumor alterations and identify actionable ones, guiding targeted anticancer treatments. However, integrating CGP into healthcare systems demands consideration of the available evidence and collaboration between shareholders.

Areas covered: This review explores CGP's cost-effectiveness and feasibility across diverse healthcare settings, based on searches in PubMed, Google Scholar, gray literature, and extensive snowballing. We further aimed to elucidate barriers to routine CGP implementation and discuss potential solutions.

Expert opinion: Patients generally express satisfaction with CGP, especially if publicly funded, yet face difficulties in understanding test results, and managing lack of actionable mutations and access to novel treatment avenues. Physicians exhibit confidence in recommending and interpreting CGP for patients with refractory disease and considerable life expectancy and performance status, albeit acknowledging potential treatment delays. Health economic studies support CGP's cost-effectiveness, highlighting increased survival, productivity, reduced medical service utilization, and cost diversion to trial sponsors. Nonetheless, challenges persist, including reimbursement policies, limited testing accessibility, and the imperative for physician training and infrastructure enhancement. Addressing these issues through collaborative efforts and policy adjustments is paramount for realizing the full potential of CGP in advancing precision oncology.