Peng Hongwei, Pan Ming, Zhou Zongning, Chen Congbo, Xing Xing, Cheng Shaoping, Zhang Shanshan, Zheng Hang, Qian Kaiyu
Department of Biological Repositories, Human Genetic Resources Preservation Center of Hubei Province, Hubei Key Laboratory of Urological Diseases, Zhongnan Hospital of Wuhan University, Wuhan, China.
Taihe Skills Training Center, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei, China.
Front Cell Dev Biol. 2024 May 9;12:1385041. doi: 10.3389/fcell.2024.1385041. eCollection 2024.
Cell-free DNA (cfDNA), a burgeoning class of molecular biomarkers, has been extensively studied across a variety of biomedical fields. As a key component of liquid biopsy, cfDNA testing is gaining prominence in disease detection and management due to the convenience of sample collection and the abundant wealth of genetic information it provides. However, the broader clinical application of cfDNA is currently impeded by a lack of standardization in the preanalytical procedures for cfDNA analysis. A number of fundamental challenges, including the selection of appropriate preanalytical procedures, prevention of short cfDNA fragment loss, and the validation of various cfDNA measurement methods, remain unaddressed. These existing hurdles lead to difficulties in comparing results and ensuring repeatability, thereby undermining the reliability of cfDNA analysis in clinical settings. This review discusses the crucial preanalytical factors that influence cfDNA analysis outcomes, including sample collection, transportation, temporary storage, processing, extraction, quality control, and long-term storage. The review provides clarification on achievable consensus and offers an analysis of the current issues with the goal of standardizing preanalytical procedures for cfDNA analysis.
游离DNA（cfDNA）是一类新兴的分子生物标志物，已在各种生物医学领域得到广泛研究。作为液体活检的关键组成部分，cfDNA检测因样本采集方便且能提供丰富的遗传信息，在疾病检测和管理中日益受到重视。然而，目前cfDNA更广泛的临床应用受到cfDNA分析前处理程序缺乏标准化的阻碍。一些基本挑战，包括选择合适的分析前程序、防止短cfDNA片段丢失以及验证各种cfDNA测量方法，仍未得到解决。这些现存的障碍导致结果比较困难且难以确保可重复性，从而削弱了cfDNA分析在临床环境中的可靠性。本综述讨论了影响cfDNA分析结果的关键分析前因素，包括样本采集、运输、临时储存、处理、提取、质量控制和长期储存。该综述阐明了可达成的共识，并对当前问题进行了分析，目的是使cfDNA分析的分析前程序标准化。
