Molecular Diagnostics for Invasive Fungal Diseases: Current and Future Approaches

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David Pham1, Varsha Sivalingam1, Helen M Tang1

  • 1Centre for Infectious Diseases and Microbiology Laboratory Services, Institute of Clinical Pathology and Medical Research, NSW Health Pathology, Westmead Hospital, Westmead, NSW 2145, Australia.

Journal of Fungi (Basel, Switzerland)
|July 26, 2024
PubMed

Insights

Early detection of invasive fungal diseases (IFDs) is crucial for effective antifungal therapy. Molecular diagnostics, including nucleic acid amplification tests and whole genome sequencing, show promise but require standardization for routine use.

Area of Science:

  • Medical Mycology
  • Molecular Diagnostics
  • Infectious Diseases

Background:

  • Invasive fungal diseases (IFDs) represent a significant and growing global health challenge.
  • Immunocompromised populations are at increased risk, necessitating prompt diagnosis and treatment.
  • Rising antifungal resistance underscores the need for improved diagnostic strategies.

Purpose of the Study:

  • To review the current landscape and future potential of molecular diagnostic techniques for IFDs.
  • To highlight the challenges and opportunities in standardizing these advanced assays.
  • To discuss the evolving role of molecular methods in clinical practice.

Main Methods:

  • Review of current literature on molecular diagnostics for IFDs.
  • Discussion of nucleic acid amplification tests (NAATs) and whole genome sequencing (WGS).
  • Analysis of targeted and broad-range PCR assays for fungal pathogens.

Main Results:

  • Targeted assays for specific fungi like *Aspergillus* are established.
  • Progress is being made in developing assays for *Candida*, *Pneumocystis*, *Cryptococcus*, Mucorales, and endemic mycoses.
  • Whole genome sequencing, including metagenomic approaches, offers high resolution for outbreak investigations but requires further standardization for routine diagnostics.

Conclusions:

  • Molecular techniques offer significant advantages over traditional methods for IFD diagnosis.
  • Standardization of methodology and interpretation is critical for widespread adoption.
  • Continued research and development are needed to integrate advanced molecular diagnostics into routine clinical workflows.
Keywords:
antifungal resistanceculture-free diagnosticsfungal PCRfungal metagenomicsmolecular diagnosticswhole genome sequencing

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