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皮肤病学分子诊断的现状与展望。

Status quo and future perspectives of molecular diagnostics in dermatology.

机构信息

Department of Dermatology and Venereology, University Medical Center Hamburg-Eppendorf (UKE), Hamburg, Germany.

Department of Dermatology and Venerology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

出版信息

J Dtsch Dermatol Ges. 2023 Apr;21(4):415-418. doi: 10.1111/ddg.15010. Epub 2023 Mar 9.

Abstract

Molecular diagnostics (MDx) has become an indispensable pillar of diagnostics in dermatology. Modern sequencing technologies allow for identification of rare genodermatoses, analysis of somatic mutations in melanoma are prerequisite for targeted therapies, and cutaneous infectious pathogens are quickly detected by PCR and other amplification methods. However, to push innovation in molecular diagnostics and tackle so far unmet clinical needs, research activities need to be bundled and the pipeline from idea to MDx product clearly rolled out. Only then, the requirements for technical validity and clinical utility of novel biomarkers can be fulfilled and the long-term vision of personalized medicine will be realized.

摘要

分子诊断(MDx)已成为皮肤病学诊断不可或缺的支柱。现代测序技术可用于鉴定罕见的遗传性皮肤病,黑色素瘤的体细胞突变分析是靶向治疗的前提,PCR 和其他扩增方法可快速检测皮肤感染病原体。然而,要推动分子诊断的创新并解决迄今未满足的临床需求,需要将研究活动捆绑在一起,并明确推出从想法到 MDx 产品的流程。只有这样,才能满足新型生物标志物的技术有效性和临床实用性要求,并实现个性化医疗的长远愿景。

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