Applications and Challenges of Advanced Molecular Diagnostics in Clinical Microbiology and Epidemiology: A Literature Review
Molecular biology techniques have revolutionised biomedical research and clinical practice, enabling the detailed examination of genetic information and cellular processes. In epidemiology and surveillance, molecular approaches have advanced more rapidly than in clinical use and are recognised for t...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2025-04-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/20832/78052_CE[Ra1]_F(SS)_QC(PS_OM)_PF1(AG_SS)_PFA(IS)_PB(AG_IS)_PN(IS).pdf |
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| Summary: | Molecular biology techniques have revolutionised biomedical research and clinical practice, enabling the detailed examination of genetic information and cellular processes. In epidemiology and surveillance, molecular approaches have advanced more rapidly than in clinical use and are recognised for their superior discrimination. This review aimed to provide details on the clinical and epidemiological applications of molecular diagnostics, particularly Whole Genome Sequencing (WGS), in various bacterial and viral diseases and to discuss its future prospects. A comprehensive literature review was conducted using PubMed, Scopus and the Web of Science from January 2002 to December 2024. This review found that WGS offers advantages for antibiotic resistance surveillance and can be used as a standard to evaluate antibiotic susceptibility in pathogenic bacteria. In Tuberculosis (TB), WGS has transformed molecular epidemiology and effectively identifies transmission clusters. Next Generation Sequencing (NGS) exceeds traditional methods for detecting viral pathogens, including novel ones, and outperforms Sanger sequencing for detecting low-frequency antiviral resistance mutations. Metagenomics identifies all potential pathogens in a single test using NGS of DNA, surpassing traditional diagnostics. NGS provides a methodological foundation for investigating bacterial transmission in forensic microbiology. The implementation of WGS in clinical and epidemiological settings remains inconsistent, with varying applications across countries and contexts. Although WGS offers advancements in fastidious microbes, plasmid-mediated resistance detection, and comprehensive characterisation, its routine use depends on overcoming challenges, targeting diseases and demonstrating benefits. Challenges such as a lack of standardisation in bioinformatics analysis, incomplete mutation catalogs and technical complexities hinder its routine use. However, advancements in mutation catalogs and the optimised use of WGS may enable comprehensive and accurate diagnosis, leading to personalised treatment strategies. A significant shift is expected in developed countries within five years, driven by global sample preparation and result analysis approaches. Developing countries face challenges that complicate their efforts, while developed nations have made progress. Future improvements in mutation catalogs and the optimised use of WGS may enable comprehensive and accurate diagnosis, leading to personalised treatment strategies. |
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| ISSN: | 2249-782X 0973-709X |