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Biomedicines
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Molecular Diagnostics and Monitoring in Tuberculosis
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Molecular Diagnostics and Monitoring in Tuberculosis

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: closed (31 July 2025) | Viewed by 1687

Special Issue Editors

Dr. Yi-Wei Tang

E-Mail Website
Guest Editor
1. Danaher Corporation/Cepheid, New York, NY, USA,
2. Former Memorial Sloan-Kettering Cancer Center, New York, NY, USA
Interests: molecular diagnostics; tuberculosis; molecular epidemiology; translational research
Prof. Dr. Yu Pang

E-Mail Website
Guest Editor
Department of Bacteriology and Immunology, Beijing Chest Hospital, Beijing Tuberculosis and Thoracic Tumor Research Institute, Capital Medical University, Beijing, China
Interests: tuberculosis; assay development and validation; pathogenesis; molecular diagnostics

Special Issue Information

Dear Colleagues,

Tuberculosis (TB) remains a significant global health challenge, with traditional diagnostic methods often falling short with regard to their sensitivity and specificity. Recent developments in molecular diagnostic techniques offer promising solutions for the early detection and precise treatment of TB. These innovations not only enable the rapid identification of Mycobacterium tuberculosis, but also facilitate the detection of drug-resistant strains, thereby informing clinical decision-making. By integrating molecular diagnostics and monitoring into clinical practice, the enhancement of TB management and a reduction in the risk of transmission can be achieved.

We invite you to contribute recent research articles or reviews to this Special Issue in order to further our collective efforts in combating tuberculosis.

Dr. Yi-Wei Tang
Prof. Dr. Yu Pang
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • tuberculosis
  • line probe assays
  • mycobacterial culture
  • phenotypic susceptibility testing
  • real-time PCR
  • whole-genome sequencing
  • omics techniques

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Published Papers (2 papers)

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Research

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15 pages, 592 KB  
Article
Evaluating the Impact of a Molecular Diagnostic Algorithm on Tuberculosis and Nontuberculous Mycobacterial Infections in Newfoundland and Labrador, Canada
by Robert Needle, Yang Yu, Hafid Soualhine, Catherine Yoshida, Lei Jiao and Rodney Russell
Biomedicines 2025, 13(10), 2416; https://doi.org/10.3390/biomedicines13102416 - 2 Oct 2025
Abstract
Background/Objectives: The diagnosis of Mycobacterium tuberculosis complex (MTBC) and nontuberculous mycobacterial (NTM) infections is accomplished by three main diagnostics methods: smear microscopy, culture, and molecular testing. Diagnostic algorithms used by laboratories can significantly impact clinical and infection control management. Current Canadian Tuberculosis [...] Read more.
Background/Objectives: The diagnosis of Mycobacterium tuberculosis complex (MTBC) and nontuberculous mycobacterial (NTM) infections is accomplished by three main diagnostics methods: smear microscopy, culture, and molecular testing. Diagnostic algorithms used by laboratories can significantly impact clinical and infection control management. Current Canadian Tuberculosis Standards recommend the use of nucleic acid amplification testing (NAAT) for smear-positive patients and smear-negative patients upon request. An alternative algorithm is to utilize NAAT in the Panel approach on all samples, pulmonary and extrapulmonary, to potentially reduce time to diagnosis and treatment. This alternative approach was implemented in November 2019 at the Newfoundland and Labrador Public Health and Microbiology Laboratory (NL PHML) using a laboratory-developed multiplex real-time PCR (LDT m-qPCR) assay targeting Mycobacterium spp. (Myco spp.) and MTBC, performed in parallel with smear and culture. Methods: To investigate the impact of this alternate testing approach, we conducted an observational retrospective analysis of laboratory diagnostic and treatment data, recognizing that temporal changes in epidemiology, clinical practice, and laboratory workflow may also have influenced outcomes. To complete this, study data from three years before and four years after implementation were gathered. Results: The sensitivity/specificity of the smear, m-LDT qPCR-MTBC, m-LDT qPCR-Myco spp., and culture assays in this study were 18.1%/100%, 96.7%/99.8%, 47.6%/99.0%, and 96.8%/100%, respectively. The gold standard utilized for these calculations was clinical diagnosis for active MTBC disease and culture for NTM infections, recognizing that the use of clinical diagnosis may introduce subjectivity. The Panel approach reduced the time to diagnosis of tuberculosis MTBC by 29 days (p < 0.0001) for NL PHML, and when modelled for a laboratory with rapid culture identification, diagnosis was reduced by 14 days (p = 0.003). Among non-empirically treated tuberculosis patients, the time to treatment was decreased by 25.5 days (p < 0.001). For NTM infections, rapid diagnostics only affected one patient’s treatment. This finding agrees with clinical management guidelines, which do not routinely utilize rapid diagnostics for the diagnosis of disease or treatment decisions. The cost implications of additional NAAT testing were calculated to be an increase of CAD 23.62 per sample. Conclusions: Our findings support the adoption of a molecular assay for MTBC as an initial diagnostic tool to decrease time to diagnosis and time to treatment, depending on local epidemiology and irrespective of smear status. Utilizing a molecular assay for genus level identification of NTM had minimal impact on clinical management suggesting its limited diagnostic utility in a broad population setting. Full article
(This article belongs to the Special Issue Molecular Diagnostics and Monitoring in Tuberculosis)
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Review

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23 pages, 1213 KB  
Review
The Evolving Landscape of Host Biomarkers for Diagnosis and Monitoring of Tuberculosis
by Yang Cui, Haoran Li, Tianhui Liu, Rujie Zhong, Jiaying Guo, Jian Du and Yu Pang
Biomedicines 2025, 13(9), 2076; https://doi.org/10.3390/biomedicines13092076 - 26 Aug 2025
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Abstract
Tuberculosis (TB) remains a formidable global public health challenge. The rising prevalence of drug-resistant TB and increased human immunodeficiency virus(HIV) co-infection further exacerbate TB control efforts. Mycobacterium tuberculosis (Mtb) achieves highly heterogeneous infection outcomes (active disease, latency, or clearance) through immune evasion and [...] Read more.
Tuberculosis (TB) remains a formidable global public health challenge. The rising prevalence of drug-resistant TB and increased human immunodeficiency virus(HIV) co-infection further exacerbate TB control efforts. Mycobacterium tuberculosis (Mtb) achieves highly heterogeneous infection outcomes (active disease, latency, or clearance) through immune evasion and host metabolic reprogramming. While conventional diagnostic techniques offer cost-effectiveness and accessibility without complex infrastructure, they are constrained by low sensitivity, prolonged turnaround times, and an inability to distinguish latent TB infection (LTBI) from active TB disease (ATB). Recent research into host-derived biomarkers provides a promising strategy to overcome diagnostic bottlenecks by deciphering characteristic molecular changes in host–pathogen interactions. This review systematically reviews advances in host-derived biomarkers for TB diagnosis, critically discussing the clinical potential, translational challenges, and future research directions of integrated multi-omics biomarker panels to enhance diagnostic sensitivity and specificity, differentiate ATB from LTBI, and guide precision therapy. Full article
(This article belongs to the Special Issue Molecular Diagnostics and Monitoring in Tuberculosis)
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