An update on current and novel molecular diagnostics for the diagnosis of invasive fungal infections

Jenks, Jeffrey D., White, P. Lewis, Kidd, Sarah E., Goshia, Tyler, Fraley, Stephanie I., Hoenigl, Martin and Thompson, George R. 2023. An update on current and novel molecular diagnostics for the diagnosis of invasive fungal infections. Expert Review of Molecular Diagnostics 23 (12) , pp. 1135-1152. 10.1080/14737159.2023.2267977

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Abstract

BackgroundInvasive fungal infections cause millions of infections annually, but diagnosis remains challenging. There is an increased need for low-cost, easy to use, highly sensitive and specific molecular assays that can differentiate between colonized and pathogenic organisms from different clinical specimens.Areas coveredWe reviewed the literature evaluating the current state of molecular diagnostics for invasive fungal infections, focusing on current and novel molecular tests such as polymerase chain reaction (PCR), digital PCR, high-resolution melt (HRM), and metagenomics/next generation sequencing (mNGS).Expert opinionPCR is highly sensitive and specific, although performance can be impacted by prior/concurrent antifungal use. PCR assays can identify mutations associated with antifungal resistance, non-Aspergillus mold infections, and infections from endemic fungi. HRM is a rapid and highly sensitive diagnostic modality that can identify a wide range of fungal pathogens, including down to the species level, but multiplex assays are limited and HRM is currently unavailable in most healthcare settings, although universal HRM is working to overcome this limitation. mNGS offers a promising approach for rapid and hypothesis-free diagnosis of a wide range of fungal pathogens, although some drawbacks include limited access, variable performance across platforms, the expertise and costs associated with this method, and long turnaround times in real-world settings.

Item Type:	Article
Date Type:	Published Online
Status:	Published
Schools:	Medicine
Publisher:	Taylor and Francis Group
ISSN:	1473-7159
Date of Acceptance:	4 October 2023
Last Modified:	23 Oct 2024 15:54
URI:	https://orca.cardiff.ac.uk/id/eprint/172761

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