Recent progress in gene editing has enabled development of gene therapies for many genetic diseases, but also made gene doping an emerging risk in sports and competitions. By delivery of exogenous transgenes into human body, gene doping not only challenges competition fairness but also places health risk on athletes. World Anti‐Doping Agency (WADA) has clearly inhibited the use of gene and cell doping in sports, and many techniques have been developed for gene doping detection. In this review, we will summarize the main tools for gene doping detection at present, highlight the main challenges for current tools, and elaborate future utilizations of high‐throughput sequencing for unbiased, sensitive, economic and large‐scale gene doping detections. Quantitative real‐time PCR assays are the widely used detection methods at present, which are useful for detection of known targets but are vulnerable to codon optimization at exon–exon junction sites of the transgenes. High‐throughput sequencing has become a powerful tool for various applications in life and health research, and the era of genomics has made it possible for sensitive and large‐scale gene doping detections. Non‐biased genomic profiling could efficiently detect new doping targets, and low‐input genomics amplification and long‐read third‐generation sequencing also have application potentials for more efficient and straightforward gene doping detection. By closely monitoring scientific advancements in gene editing and sport genetics, high‐throughput sequencing could play a more and more important role in gene detection and hopefully contribute to doping‐free sports in the future.

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基因组学时代的基因兴奋剂检测

基因编辑的最新进展使得许多遗传疾病的基因疗法得以开发，但也使基因兴奋剂成为体育和比赛中的新风险。通过将外源转基因导入人体，基因兴奋剂不仅挑战比赛公平性，还给运动员带来健康风险。世界反兴奋剂机构（WADA）明确禁止基因和细胞兴奋剂在体育运动中的使用，并且已经开发了许多用于基因兴奋剂检测的技术。在这篇综述中，我们将总结目前基因兴奋剂检测的主要工具，强调当前工具面临的主要挑战，并详细阐述高通量测序在公正、灵敏、经济和大规模基因兴奋剂检测中的未来应用。实时定量PCR检测是目前广泛使用的检测方法，可用于检测已知靶标，但容易受到转基因外显子-外显子连接位点密码子优化的影响。高通量测序已成为生命和健康研究中各种应用的有力工具，基因组学时代使灵敏、大规模的基因兴奋剂检测成为可能。无偏见的基因组分析可以有效地检测新的兴奋剂目标，低输入基因组扩增和长读长第三代测序也具有更有效和更直接的基因兴奋剂检测的应用潜力。通过密切监测基因编辑和运动遗传学方面的科学进展，高通量测序可以在基因检测中发挥越来越重要的作用，并有望为未来的无兴奋剂运动做出贡献。