Pham David, Sivalingam Varsha, Tang Helen M, Montgomery James M, Chen Sharon C-A, Halliday Catriona L
Centre for Infectious Diseases and Microbiology Laboratory Services, Institute of Clinical Pathology and Medical Research, NSW Health Pathology, Westmead Hospital, Westmead, NSW 2145, Australia.
Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW 2006, Australia.
J Fungi (Basel). 2024 Jun 26;10(7):447. doi: 10.3390/jof10070447.
Invasive fungal diseases (IFDs) comprise a growing healthcare burden, especially given the expanding population of immunocompromised hosts. Early diagnosis of IFDs is required to optimise therapy with antifungals, especially in the setting of rising rates of antifungal resistance. Molecular techniques including nucleic acid amplification tests and whole genome sequencing have potential to offer utility in overcoming limitations with traditional phenotypic testing. However, standardisation of methodology and interpretations of these assays is an ongoing undertaking. The utility of targeted detection has been well-defined, with progress in investigations into the role of targeted assays for , , , the Mucorales and endemic mycoses. Likewise, whilst broad-range polymerase chain reaction assays have been in use for some time, pathology stewardship and optimising diagnostic yield is a continuing exercise. As costs decrease, there is also now increased access and experience with whole genome sequencing, including metagenomic sequencing, which offers unparalleled resolution especially in the investigations of potential outbreaks. However, their role in routine diagnostic use remains uncommon and standardisation of techniques and workflow are required for wider implementation.
侵袭性真菌病（IFD）给医疗保健带来的负担日益加重，尤其是考虑到免疫功能低下宿主群体不断扩大的情况。IFD的早期诊断对于优化抗真菌治疗至关重要，特别是在抗真菌耐药率不断上升的背景下。包括核酸扩增检测和全基因组测序在内的分子技术有潜力克服传统表型检测的局限性。然而，这些检测方法的标准化以及结果解读仍在不断推进。靶向检测的效用已得到明确界定，在针对毛霉目、地方性真菌病等的靶向检测作用研究方面取得了进展。同样，虽然广谱聚合酶链反应检测已经使用了一段时间，但病理管理和优化诊断产出仍是一项持续的工作。随着成本降低，全基因组测序（包括宏基因组测序）的应用和经验也在增加，全基因组测序具有无与伦比的分辨率，特别是在潜在疫情调查中。然而，它们在常规诊断中的应用仍然不常见，需要进行技术和工作流程的标准化以实现更广泛的应用。
