Expert Review Of Molecular Diagnostics[JOURNAL]
Sun
200 papers
Liquid biopsy for early cancer detection: technological revolutions and clinical dilemma.
Fu SW, Tang C, Tan X … +1 more , Srivastava S
Expert Rev Mol Diagn · 2024 Oct · PMID 39360748 · Publisher ↗
INTRODUCTION: Liquid biopsy is an innovative advancement in oncology, offering a noninvasive method for early cancer detection and monitoring by analyzing circulating tumor cells, DNA, RNA, and other biomarkers in bodily...
INTRODUCTION: Liquid biopsy is an innovative advancement in oncology, offering a noninvasive method for early cancer detection and monitoring by analyzing circulating tumor cells, DNA, RNA, and other biomarkers in bodily fluids. This technique has the potential to revolutionize precision oncology by providing real-time analysis of tumor dynamics, enabling early detection, monitoring treatment responses, and tailoring personalized therapies based on the molecular profiles of individual patients. AREAS COVERED: In this review, the authors discuss current methodologies, technological challenges, and clinical applications of liquid biopsy. This includes advancements in detecting minimal residual disease, tracking tumor evolution, and combining liquid biopsy with other diagnostic modalities for precision oncology. Key areas explored are the sensitivity, specificity, and integration of multi-omics, AI, ML, and LLM technologies. EXPERT OPINION: Liquid biopsy holds great potential to revolutionize cancer care through early detection and personalized treatment strategies. However, its success depends on overcoming technological and clinical hurdles, such as ensuring high sensitivity and specificity, interpreting results amidst tumor heterogeneity, and making tests accessible and affordable. Continued innovation and collaboration are crucial to fully realize the potential of liquid biopsy in improving early cancer detection, treatment, and monitoring.
Digital HIV self-testing as an exemplar: a perspective on benefits, challenges, and opportunities.
Beecroft A, Vaikla O, Pant Pai N
Expert Rev Mol Diagn · 2024 Oct · PMID 39323182 · Publisher ↗
INTRODUCTION: Digital human immunodeficiency virus self-testing (HIVST) leverages digital supports, enhancing accessibility, privacy, and early detection of HIV, empowering individuals to manage their HIV status and faci...
INTRODUCTION: Digital human immunodeficiency virus self-testing (HIVST) leverages digital supports, enhancing accessibility, privacy, and early detection of HIV, empowering individuals to manage their HIV status and facilitating timely linkage to care. These advancements contribute to reduced HIV transmission and thereby lead to improved health outcomes. AREAS COVERED: This perspective examines the current landscape of digital HIVST strategies, highlighting challenges that must be addressed and opportunities that are presented as the field evolves. EXPERT OPINION: Implementing advances in digital HIVST requires a unified digital network architecture that integrates proven tools (digital supports) within the World Health Organization's One Health Agenda. This includes strategies effective in diverse settings, supported by evolving governance and ethics frameworks that ensure data safety and privacy. Although data on linkages to care are strong, digital HIVST strategies may need further field validation, especially in low-income countries. Key challenges include systems integration, data privacy safeguards, and implementation of proven digital supports. Embracing digital readers, machine learning solutions, chatbots, and wearable solutions can improve outcomes that translate to significant public health benefits in the context of HIV elimination. Investing in digital technologies and integrating digital HIVST into HIV prevention and care programs can enable progress toward UNAIDS elimination targets.
Assessment of MeMed BV assays for differentiating between bacterial and viral respiratory infections.
Carroll KC
Expert Rev Mol Diagn · 2024 Oct · PMID 39314006 · Publisher ↗
INTRODUCTION: Distinguishing bacterial from viral infections remains a challenge due to clinically indistinguishable presentations. Non-infectious conditions such as malignancy, pulmonary emboli and rheumatological condi...
INTRODUCTION: Distinguishing bacterial from viral infections remains a challenge due to clinically indistinguishable presentations. Non-infectious conditions such as malignancy, pulmonary emboli and rheumatological conditions may also present with fever. Consequently, patients are often over-treated with antimicrobial agents or may not receive adequate therapy. AREAS COVERED: This article provides a comprehensive review of a novel protein host-signature assay, the MeMed BV assay, that distinguishes bacterial from viral infections. The focus is on the use of the test in respiratory tract infections including assay performance characteristics, clinical profiles and data on cost-effectiveness. The changing landscape from the use of single inflammatory biomarkers, such as C-reactive protein, to alternative and diverse host signature biomarkers, is also discussed. EXPERT OPINION: The MeMed BV assay is one of several novel host biomarkers that provide rapid results and demonstrate enhanced performance compared to single test biomarkers. This assay has been validated by a large number of carefully controlled clinical trials that demonstrate improved performance characteristics for distinguishing bacterial infections or combined bacterial/viral infections from viral or noninfectious causes of fever compared to C-reactive protein and procalcitonin. However, these trials may over-state assay performance as samples with equivocal band results are often not included in the statistical analysis. More real-world studies addressing clinical implementation of the MeMed BV assay or other biomarkers into ambulatory settings are needed.
Current and emerging technologies to develop Point-of-Care Diagnostics in medical mycology.
Matsuo T, Wurster S, Hoenigl M … +1 more , Kontoyiannis DP
Expert Rev Mol Diagn · 2024 Sep · PMID 39294931 · Publisher ↗
INTRODUCTION: Advances in diagnostic technologies, particularly Point-of-Care Diagnostics (POCDs), have revolutionized clinical practice by providing rapid, user-friendly, and affordable testing at or near the patient's...
INTRODUCTION: Advances in diagnostic technologies, particularly Point-of-Care Diagnostics (POCDs), have revolutionized clinical practice by providing rapid, user-friendly, and affordable testing at or near the patient's location. POCDs have been increasingly introduced in medical mycology and hold promise to improve patient outcomes in a variety of important human fungal diseases. AREAS COVERED: This review focuses on validated POCDs, particularly lateral flow assays (LFAs), for various fungal diseases. Additionally, we discuss emerging innovative techniques such as body fluid analysis, imaging methods, loop-mediated isothermal amplification (LAMP), microfluidic systems, clustered regularly interspaced short palindromic repeats (CRISPR)-based diagnostics, and the emerging role of artificial intelligence. EXPERT OPINION: Compact and user-friendly POCDs have been increasingly introduced in medical mycology, and some of these tests (e.g. and antigen LFAs) have become mainstream diagnostics, while others, such as LFA in invasive aspergillosis show promise to become part of our routine diagnostic armamentarium. POCDs offer immense benefits such as timely and accurate diagnostic results, reduced patient discomfort, and lower healthcare costs and might contribute to antifungal stewardship. Integrated fluidics combined with microtechnology having multiplex capabilities will be pivotal in medical mycology.
Molecular biomarkers of blunt cardiac injury: recent advances and future perspectives.
Wang N, Huang J, Fang Y … +3 more , Du H, Chen Y, Zhao S
Expert Rev Mol Diagn · 2024 Nov · PMID 39285529 · Publisher ↗
INTRODUCTION: Blunt cardiac injury (BCI), associated with high morbidity and mortality, involves multiple injuries. With no widely accepted gold standard diagnostic test and molecular biomarkers still in debate and far f...
INTRODUCTION: Blunt cardiac injury (BCI), associated with high morbidity and mortality, involves multiple injuries. With no widely accepted gold standard diagnostic test and molecular biomarkers still in debate and far from application in clinical practice, exploring specific molecular biomarkers of BCI is of great significance. The clarification of molecular biomarkers can improve the diagnosis of BCI, leading to more precise care for victims in various situations. AREAS COVERED: Using the search term 'Biomarker AND Blunt cardiac injury,' we carefully reviewed related papers from June 2004 to June 2024 in PubMed and CNKI. After reviewing, we included 20 papers, summarizing the biomarkers reported in previous studies, and then reviewed molecular biomarkers such as troponins, Nterminal proBtype natriuretic peptide (NT proBNP), hearttype fatty acid binding protein (hFABP), and lactate for BCI diagnosis. Finally, valuable views on future research directions for diagnostic biomarkers of BCI were presented. EXPERT OPINION: Several advanced technologies have been introduced into clinical medicine, which have ultimately changed the research on cardiac diseases in recent years. Some biomarkers have been identified and utilized for BCI diagnosis. Herein, we summarize the latest relevant information as a reference for clinical practice and future studies.
Harnessing the potential of genomic characterization of mutational profiles to improve early diagnosis of lung cancer.
Gristina V, Pepe F, Genova C … +10 more , Bazan Russo TD, Gottardo A, Russo G, Incorvaia L, Galvano A, Badalamenti G, Bazan V, Troncone G, Russo A, Malapelle U
Expert Rev Mol Diagn · 2024 Sep · PMID 39267426 · Publisher ↗
INTRODUCTION: Lung Cancer (LC) continues to be a leading cause of cancer-related mortality globally, largely due to the asymptomatic nature of its early stages and the limitations of current diagnostic methods such as Lo...
INTRODUCTION: Lung Cancer (LC) continues to be a leading cause of cancer-related mortality globally, largely due to the asymptomatic nature of its early stages and the limitations of current diagnostic methods such as Low-Dose Computed Tomography (LDCT), whose often result in late diagnosis, highlighting an urgent need for innovative, minimally invasive diagnostic techniques that can improve early detection rates. AREAS COVERED: This review delves into the potential of genomic characterization and mutational profiling to enhance early LC diagnosis, exploring the current state and limitations of traditional diagnostic approaches and the revolutionary role of Liquid Biopsies (LB), including cell-free DNA (cfDNA) analysis through fragmentomics and methylomics. New genomic technologies that allow for earlier detection of LC are scrutinized, alongside a detailed discussion on the literature that shaped our understanding in this field. EXPERT OPINION: Despite the promising advancements in genomic characterization techniques, several challenges remain, such as the heterogeneity of LC mutations, the high cost, and limited accessibility of Next-Generation Sequencing (NGS) technologies. Additionally, there is a critical need of standardized protocols for interpreting mutational data. Future research should focus on overcoming these barriers to integrate these novel diagnostic methods into standard clinical practice, potentially revolutionizing the management of LC patients.
Research advancement in fluid biomarkers for Parkinson's disease.
Gaetani L, Paolini Paoletti F, Mechelli A … +2 more , Bellomo G, Parnetti L
Expert Rev Mol Diagn · 2024 Oct · PMID 39262126 · Publisher ↗
INTRODUCTION: Diagnostic criteria for Parkinson's disease (PD) rely on clinical, mainly motor, features, implying that pre-motor phase cannot be accurately identified. To achieve a reliable early diagnosis, similar to wh...
INTRODUCTION: Diagnostic criteria for Parkinson's disease (PD) rely on clinical, mainly motor, features, implying that pre-motor phase cannot be accurately identified. To achieve a reliable early diagnosis, similar to what has been done for Alzheimer's disease (AD), a shift from clinical to biological identification of PD is being pursued. This shift has taken great advantage from the research on cerebrospinal fluid (CSF) biomarkers as they mirror the ongoing molecular pathogenic mechanisms taking place in PD, thus intercepting the disease timely with respect to clinical manifestations. AREAS COVERED: CSF α-synuclein seed amplification assay (αS-SAA) has emerged as the most promising biomarker of α-synucleinopathy. CSF biomarkers reflecting AD-pathology and axonal damage (neurofilament light chain) and a novel marker of dopaminergic dysfunction (DOPA decarboxylase) add valuable diagnostic and prognostic information in the neurochemical characterization of PD. EXPERT OPINION: A biological classification system of PD, encompassing pathophysiological and staging biomarkers, might ensure both early identification and prognostic characterization of the patients. This approach could allow for the best setting for disease-modifying treatments which are currently under investigation.
How can we improve the successful identification of patients suitable for CAR-T cell therapy?
Feng Y, Wu L, Gu T … +2 more , Hu Y, Huang H
Expert Rev Mol Diagn · 2024 Sep · PMID 39258858 · Publisher ↗
INTRODUCTION: In recent years, chimeric antigen receptor T (CAR-T) cell therapy has resulted in a breakthrough in the treatment of patients with refractory or relapsed hematological malignancies. However, the identificat...
INTRODUCTION: In recent years, chimeric antigen receptor T (CAR-T) cell therapy has resulted in a breakthrough in the treatment of patients with refractory or relapsed hematological malignancies. However, the identification of patients suitable for CAR-T cell therapy needs to be improved. AREAS COVERED: CAR-T cell therapy has demonstrated excellent efficacy in hematological malignancies; however, views on determining when to apply CAR-T cells in terms of the evaluation of patient characteristics remain controversial. EXPERT OPINION: We reviewed the current feasibility and challenges of CAR-T cell therapy in the most common hematological malignancies and classified them according to the disease type and treatment priority, to guide clinicians and researchers in applying and investigating CAR-T cells furtherly.
Implementing next-generation sequencing for diagnosis and management of hereditary hearing impairment: a comprehensive review.
Tsai CY, Hsu JS, Chen PL … +1 more , Wu CC
Expert Rev Mol Diagn · 2024 Sep · PMID 39194060 · Publisher ↗
INTRODUCTION: Sensorineural hearing impairment (SNHI), a common childhood disorder with heterogeneous genetic causes, can lead to delayed language development and psychosocial problems. Next-generation sequencing (NGS) o...
INTRODUCTION: Sensorineural hearing impairment (SNHI), a common childhood disorder with heterogeneous genetic causes, can lead to delayed language development and psychosocial problems. Next-generation sequencing (NGS) offers high-throughput screening and high-sensitivity detection of genetic etiologies of SNHI, enabling clinicians to make informed medical decisions, provide tailored treatments, and improve prognostic outcomes. AREAS COVERED: This review covers the diverse etiologies of HHI and the utility of different NGS modalities (targeted sequencing and whole exome/genome sequencing), and includes HHI-related studies on newborn screening, genetic counseling, prognostic prediction, and personalized treatment. Challenges such as the trade-off between cost and diagnostic yield, detection of structural variants, and exploration of the non-coding genome are also highlighted. EXPERT OPINION: In the current landscape of NGS-based diagnostics for HHI, there are both challenges (e.g. detection of structural variants and non-coding genome variants) and opportunities (e.g. the emergence of medical artificial intelligence tools). The authors advocate the use of technological advances such as long-read sequencing for structural variant detection, multi-omics analysis for non-coding variant exploration, and medical artificial intelligence for pathogenicity assessment and outcome prediction. By integrating these innovations into clinical practice, precision medicine in the diagnosis and management of HHI can be further improved.
Recent developments in molecular targeted therapies for hepatocellular carcinoma in the genomic era.
Testa U
Expert Rev Mol Diagn · 2024 Sep · PMID 39194003 · Publisher ↗
INTRODUCTION: Primary liver cancer is a major health problem being the sixth most frequent cancer in the world and the third cause of cancer-related death in the world. The most common histological type of liver cancer i...
INTRODUCTION: Primary liver cancer is a major health problem being the sixth most frequent cancer in the world and the third cause of cancer-related death in the world. The most common histological type of liver cancer is hepatocellular carcinoma (HCC, 75-80%). AREAS COVERED: Based on primary literature, this review provides an updated analysis of studies of genetic characterization of HCC at the level of gene mutation profiling, copy number alterations, and gene expression, with the definition of molecular subgroups and the identification of some molecular biomarkers and therapeutic targets. Recent therapeutic developments are also highlighted. EXPERT OPINION: Deepening the understanding of the molecular complexity of HCC is progressively paving the way for the development of more personalized treatment approaches. Two important strategies involve the definition and validation of molecularly defined therapeutic targets in a subset of HCC patients and the identification of suitable biomarkers for approved systematic therapies (multikinase inhibitors and immunotherapies). The extensive molecular characterization of patients at the genomic and transcriptomic levels and the inclusion of detailed and relevant translational studies in clinical trials will represent a fundamental tool for improving the benefit of systemic therapies in HCC.
A systematic review and meta-analysis combined with bioinformatic analysis on the predictive value of E-cadherin in patients with renal cell carcinoma.
Zhang Z, Xue B, Chen Y … +2 more , Shao Y, Wang D
Expert Rev Mol Diagn · 2024 Sep · PMID 39187988 · Publisher ↗
OBJECTIVES: Renal cell carcinoma (RCC) is the most common cancer of the kidney. This study aims to evaluate the potential predictive value of E-cadherin, a marker of the epithelial mesenchymal transit (EMT) process that...
OBJECTIVES: Renal cell carcinoma (RCC) is the most common cancer of the kidney. This study aims to evaluate the potential predictive value of E-cadherin, a marker of the epithelial mesenchymal transit (EMT) process that has been associated with tumor metastasis. METHODS: We searched PubMed, Embase, and Cochrane Library to identify prospective studies. Hazard ratios (HRs), odds ratios (ORs), and 95% confidence intervals (CIs) were summarized to validate the relationship between E-cadherin and survival and clinical characteristics. The quality of the included studies was assessed using the NOS table. Then, we analyzed genetic data and clinical characteristics from The Cancer Genome Atlas Program (TCGA) database using R language with the dplyr package for validation. RESULTS: Including 21 articles. The analysis revealed a strong link between high E-cadherin expression and favorable prognosis (for OS, HR = 0.35, 95% CI: 0.19-0.62; for PFS, HR = 0.19, 95% CI: 0.03-0.53; for DSS, HR = 0.25, 95% CI: 0.08-0.76; for RFS, HR = 0.71, 95% CI: 0.44-1.16; for DFS, HR = 0.28, 95% CI: 0.13-0.61; for T stage, OR = 0.21, 95% CI: 0.11-0.41; for N stage, OR = 0.07, 95%CI: 0.02-0.25; for M stage, OR = 0.12, 95% CI: 0.02-0.60; for clinical stage, OR = 0.29, 95% CI: 0.18-0.47; for nuclear grade, OR = 0.23, 95% CI: 0.13-0.41; for tumor size, OR = 0.49, 95% CI: 0.26-0.92). The findings were supported by bioinformatic analysis which used TCGA RCC patient's cohort ( < 0.01). CONCLUSION: Based on the current data, E-cadherin may predict a better prognosis in RCC patients.
Serum biomarkers for predicting microvascular complications of diabetes mellitus.
Wang J, Song X, Xia Z … +4 more , Feng S, Zhang H, Xu C, Zhang H
Expert Rev Mol Diagn · 2024 Aug · PMID 39158206 · Publisher ↗
INTRODUCTION: Diabetic microvascular complications such as retinopathy, nephropathy, and neuropathy are primary causes of blindness, terminal renal failure, and neuropathic disorders in type 2 diabetes mellitus patients....
INTRODUCTION: Diabetic microvascular complications such as retinopathy, nephropathy, and neuropathy are primary causes of blindness, terminal renal failure, and neuropathic disorders in type 2 diabetes mellitus patients. Identifying reliable biomarkers promptly is pivotal for early detection and intervention in these severe complications. AREAS COVERED: This review offers a thorough examination of the latest research concerning serum biomarkers for the prediction and assessment of diabetic microvascular complications. It encompasses biomarkers associated with glycation, oxidative stress, inflammation, endothelial dysfunction, basement membrane thickening, angiogenesis, and thrombosis. The review also highlights the potential of emerging biomarkers, such as microRNAs and long non-coding RNAs. EXPERT OPINION: Serum biomarkers are emerging as valuable tools for the early assessment and therapeutic guidance of diabetic microvascular complications. The biomarkers identified not only reflect the underlying pathophysiology but also align with the extent of the disease. However, further validation across diverse populations and improvement of the practicality of these biomarkers in routine clinical practice are necessary. Pursuing these objectives is essential to advance early diagnosis, risk assessment, and individualized treatment regimens for those affected by diabetes.
Towards improved point-of-care (POC) testing for patients with suspected sepsis: POC tests for host biomarkers and possible microbial pathogens.
Adami ME, Giamarellos-Bourboulis EJ, Polyzogopoulou E
Expert Rev Mol Diagn · 2024 Sep · PMID 39135402 · Publisher ↗
INTRODUCTION: Sepsis is a heterogeneous syndrome often misdiagnosed. Point-of-care (POC) diagnostic tests are commonly used to guide decision and include host biomarkers and molecular diagnostics. AREAS COVERED: The diag...
INTRODUCTION: Sepsis is a heterogeneous syndrome often misdiagnosed. Point-of-care (POC) diagnostic tests are commonly used to guide decision and include host biomarkers and molecular diagnostics. AREAS COVERED: The diagnostic and prognostic accuracy of established and emerging biomarkers for sepsis, including procalcitonin (PCT) soluble urokinase plasminogen activator receptor (suPAR), presepsin, TRAIL/IP-10/CRP, MxA, and MxA-CRP, are analyzed in this review. The clinical utility of the two prevalent molecular techniques for pathogens identification using polymerase chain reaction (PCR) assays is also presented: FILMARRAY and QIAstat-Dx RP. EXPERT OPINION: The rising benefits of the combined use of POC biomarkers with molecular diagnostics in daily clinical routine appear to outperform conventional practices in terms of reduced turnaround time, timely diagnosis, and prompt administration of the appropriate treatment. Yet, this must be further demonstrated in future investigations. However, the cost-effectiveness of POC tests and the high rate of false positive and negative results, indicate the need for a comprehensive clinical evaluation.
Clinical application of whole genome sequencing in young onset dementia: challenges and opportunities.
Huq A, Thompson B, Winship I
Expert Rev Mol Diagn · 2024 Aug · PMID 39135326 · Publisher ↗
INTRODUCTION: Young onset dementia (YOD) by its nature is difficult to diagnose. Despite involvement of multidisciplinary neurogenetics services, patients with YOD and their families face significant diagnostic delays. G...
INTRODUCTION: Young onset dementia (YOD) by its nature is difficult to diagnose. Despite involvement of multidisciplinary neurogenetics services, patients with YOD and their families face significant diagnostic delays. Genetic testing for people with YOD currently involves a staggered, iterative approach. There is currently no optimal single genetic investigation that simultaneously identifies the different genetic variants resulting in YOD. AREAS COVERED: This review discusses the advances in clinical genomic testing for people with YOD. Whole genome sequencing (WGS) can be employed as a 'one stop shop' genomic test for YOD. In addition to single nucleotide variants, WGS can reliably detect structural variants, short tandem repeat expansions, mitochondrial genetic variants as well as capture single nucleotide polymorphisms for the calculation of polygenic risk scores. EXPERT OPINION: WGS, when used as the initial genetic test, can enhance the likelihood of a precision diagnosis and curtail the time taken to reach this. Finding a clinical diagnosis using WGS can reduce invasive and expensive investigations and could be cost effective. These advances need to be balanced against the limitations of the technology and the genetic counseling needs for these vulnerable patients and their families.
A review of the value of point-of-care testing for community-acquired pneumonia.
Palomeque A, Cilloniz C, Soler-Comas A … +4 more , Canseco-Ribas J, Rovira-Ribalta N, Motos A, Torres A
Expert Rev Mol Diagn · 2024 Aug · PMID 39135321 · Publisher ↗
INTRODUCTION: Community-acquired pneumonia (CAP) is an infectious disease associated with high mortality worldwide. Although Streptococcus pneumoniae remains the most frequent pathogen in CAP, data from recent studies us...
INTRODUCTION: Community-acquired pneumonia (CAP) is an infectious disease associated with high mortality worldwide. Although Streptococcus pneumoniae remains the most frequent pathogen in CAP, data from recent studies using molecular tests have shown that respiratory viruses play a key role in adults with pneumonia. The impact of difficult-to-treat pathogens on the outcomes of pneumonia is also important even though they represent only a small proportion of overall cases. Despite improvements in the microbiological diagnosis of CAP in recent decades, the identification of the causative pathogen is often delayed because of difficulties in obtaining good-quality sputum samples, issues in transporting samples, and slow laboratory processes. Therefore, the initial treatment of CAP is usually empirical. Point-of-care testing (POCT) was introduced to avoid treatment delays and reduce reliance on empirical antibiotics. AREAS COVERED: This review summarizes the main scientific evidence on the role of POCT in the diagnosis and management of patients with CAP. The authors searched for articles on POCT in pneumonia on PubMed from inception to 20 January 2024. The references in the identified articles were also searched. EXPERT OPINION: POCT involves rapid diagnostic assays that can be performed at the bedside especially in cases of severe CAP and immunocompromised patients. These tests can produce results that could help guide initial therapy and management.
Recent advances in CRISPR-Cas systems for colorectal cancer research and therapeutics.
Khorshid Sokhangouy S, Alizadeh F, Lotfi M … +5 more , Sharif S, Ashouri A, Yoosefi Y, Bozorg Qomi S, Abbaszadegan MR
Expert Rev Mol Diagn · 2024 Aug · PMID 39132997 · Publisher ↗
INTRODUCTION: Colon cancer, ranked as the fourth leading global cause of cancer death, exhibits a complex progression marked by genetic variations. Over the past decade, the utilization of diverse CRISPR systems has prop...
INTRODUCTION: Colon cancer, ranked as the fourth leading global cause of cancer death, exhibits a complex progression marked by genetic variations. Over the past decade, the utilization of diverse CRISPR systems has propelled accelerated research into colorectal cancer (CRC) treatment. AREAS COVERED: CRISPR/Cas9, a key player in this research, identifies new oncogenes, tumor suppressor genes (TSGs), and drug-resistance genes. Additionally, it facilitates the construction of experimental models, conducts genome-wide library screening, and develops new therapeutic targets, especially for targeted knockout in vivo or molecular targeted drug delivery, contributing to personalized treatments and significantly enhancing the care of colon cancer patients. In this review, we provide insights into the mechanism of the CRISPR/Cas9 system, offering a comprehensive exploration of its applications in CRC, spanning screening, modeling, gene functions, diagnosis, and gene therapy. While acknowledging its transformative potential, the article highlights the challenges and limitations of CRISPR systems. EXPERT OPINION: The application of CRISPR/Cas9 in CRC research provides a promising avenue for personalized treatments. Its potential for identifying key genes and enabling experimental models and genome-wide screening enhances patient care. This review underscores the significance of CRISPR-Cas9 gene editing technology across basic research, diagnosis, and the treatment landscape of colon cancer.
Biomarkers of sleep-wake disturbance as predictors of cognitive decline and accelerated disease progression.
Tucker A, Goldberg TE, Kim H
Expert Rev Mol Diagn · 2024 Aug · PMID 39129222 · Publisher ↗
INTRODUCTION: In older adults, where sleep disturbances and cognitive impairment are common, mounting evidence suggests a potential connection between sleep and cognitive function, highlighting the significance of utiliz...
INTRODUCTION: In older adults, where sleep disturbances and cognitive impairment are common, mounting evidence suggests a potential connection between sleep and cognitive function, highlighting the significance of utilizing sleep as a biomarker for early detection of cognitive impairment to improve clinical outcomes in a noninvasive, cost-effective manner. AREAS COVERED: This review describes the relationship between sleep and cognitive function in older adults, encompassing both subjective and objective measures of sleep quality, duration, architecture, and sleep-disordered breathing. The authors consider the directionality of the associations observed in prospective and cross-sectional studies, exploring whether sleep disturbances precede cognitive decline or vice versa. Furthermore, they discuss the potential bidirectional relationships between sleep and Alzheimer's disease (AD) risks in older adults while also examining the neurodegenerative pathways of this relationship. EXPERT OPINION: Routine sleep monitoring in primary care settings has the potential to bolster early detection and treatment of sleep disturbance, and by extension, reduce the risk of dementia. Improving sleep assessment tools, such as wearables, provide scalable alternatives to traditional methods like polysomnography, potentially enabling widespread monitoring of sleep characteristics. Standardized measurement and inclusive participant recruitment are needed to enhance generalizability, while longitudinal studies are essential to understand the interaction between sleep and AD pathology.
The current clinical applications of preimplantation genetic testing (PGT): acknowledging the limitations of biology and technology.
Kakourou G, Sofocleous C, Mamas T … +2 more , Vrettou C, Traeger-Synodinos J
Expert Rev Mol Diagn · 2024 Sep · PMID 39107971 · Publisher ↗
INTRODUCTION: Preimplantation Genetic Testing (PGT) is a cutting-edge test used to detect genetic abnormalities in embryos fertilized through Medically Assisted Reproduction (MAR). PGT aims to ensure that embryos selecte...
INTRODUCTION: Preimplantation Genetic Testing (PGT) is a cutting-edge test used to detect genetic abnormalities in embryos fertilized through Medically Assisted Reproduction (MAR). PGT aims to ensure that embryos selected for transfer are free of specific genetic conditions or chromosome abnormalities, thereby reducing chances for unsuccessful MAR cycles, complicated pregnancies, and genetic diseases in future children. AREAS COVERED: In PGT, genetics, embryology, and technology progress and evolve together. Biological and technological limitations are described and addressed to highlight complexity and knowledge constraints and draw attention to concerns regarding safety of procedures, clinical validity, and utility, extent of applications and overall ethical implications for future families and society. EXPERT OPINION: Understanding the genetic basis of diseases along with advanced technologies applied in embryology and genetics contribute to faster, cost-effective, and more efficient PGT. Next Generation Sequencing-based techniques, enhanced by improved bioinformatics, are expected to upgrade diagnostic accuracy. Complicating findings such as mosaicism, mt-DNA variants, variants of unknown significance, or variants related to late-onset or polygenic diseases will however need further appraisal. Emphasis on monitoring such emerging data is crucial for evidence-based counseling while standardized protocols and guidelines are essential to ensure clinical value and respect of Ethical, Legal and Societal Issues.
An overview of early genetic predictors of IgA deficiency.
Fekrvand S, Abolhassani H, Rezaei N
Expert Rev Mol Diagn · 2024 Aug · PMID 39087770 · Publisher ↗
INTRODUCTION: Inborn errors of immunity (IEIs) refer to a heterogeneous category of diseases with defects in the number and/or function of components of the immune system. Immunoglobulin A (IgA) deficiency is the most pr...
INTRODUCTION: Inborn errors of immunity (IEIs) refer to a heterogeneous category of diseases with defects in the number and/or function of components of the immune system. Immunoglobulin A (IgA) deficiency is the most prevalent IEI characterized by low serum level of IgA and normal serum levels of IgG and/or IgM. Most of the individuals with IgA deficiency are asymptomatic and are only identified through routine laboratory tests. Others may experience a wide range of clinical features including mucosal infections, allergies, and malignancies as the most important features. IgA deficiency is a multi-complex disease, and the exact pathogenesis of it is still unknown. AREAS COVERED: This review compiles recent research on genetic and epigenetic factors that may contribute to the development of IgA deficiency. These factors include defects in B-cell development, IgA class switch recombination, synthesis, secretion, and the long-term survival of IgA switched memory B cells and plasma cells. EXPERT OPINION: A better and more comprehensive understanding of the cellular pathways involved in IgA deficiency could lead to personalized surveillance and potentially curative strategies for affected patients, especially those with severe symptoms.
polymorphisms and bladder cancer risk in the Chinese Han population.
Liang J, Li Y, Wan P … +5 more , Zhang W, Han J, Zhang M, Li B, Jin T
Expert Rev Mol Diagn · 2024 Aug · PMID 39086208 · Publisher ↗
BACKGROUND: The expression of has implications for the prognosis of female bladder cancer. However, this study aimed to explore the association between single nucleotide polymorphisms (SNPs) in and bladder cancer risk,...
BACKGROUND: The expression of has implications for the prognosis of female bladder cancer. However, this study aimed to explore the association between single nucleotide polymorphisms (SNPs) in and bladder cancer risk, as no prior research has addressed this association. RESEARCH DESIGN AND METHODS: We selected and genotyped five SNPs (rs4646, rs6493487, rs1062033, rs17601876, and rs3751599) in 217 patients and 550 controls using the Agena MassARRAY system. Logistic regression analysis was employed to calculate the odds ratio (OR) and 95% confidence intervals (CIs). Bioinformatics predicted SNP functions and involving pathways. RESULTS: Our study revealed a significant association between bladder cancer risk and four SNPs (rs4646 (AC vs. CC: OR = 1.71, FDR- = 0.005), rs6493487 (G vs. A: OR = 0.68, FDR- = 0.011), rs1062033 (G vs. C: OR = 0.36, FDR- < 0.001), and rs17601876 (GA vs. GG: OR = 1.66, FDR- = 0.008)) in . The three SNPs (rs4646, rs1062033, and rs17601876) were significantly correlated with expression levels in normal whole blood ( < 0.05). Moreover, was found to primarily participate in the steroid hormone biosynthesis and metabolic pathways. CONCLUSIONS: Consequently, gene polymorphisms may play a crucial role in the genetic susceptibility to bladder cancer.
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