基因检测技术在罕见病诊疗中的应用前景及挑战

doi:10.3969/j.issn.1673-8640.2025.02.001

检验医学 ›› 2025, Vol. 40 ›› Issue (2): 105-108.DOI: 10.3969/j.issn.1673-8640.2025.02.001

• 精准医疗时代遗传性疾病基因检测专题 • 下一篇

基因检测技术在罕见病诊疗中的应用前景及挑战

郭玮

复旦大学附属中山医院检验科，上海 200032

收稿日期:2024-12-23 修回日期:2025-01-08 出版日期:2025-02-28 发布日期:2025-03-07
作者简介:郭玮，女，1970年生，博士，主任技师，主要从事罕见病、肿瘤的分子诊断及肿瘤转移复发机制研究。
基金资助:
国家自然科学基金项目(82172348)

Application prospects and challenges of genetic testing in the diagnosis of rare disorders

GUO Wei

Department of Clinical Laboratory，Zhongshan Hospital，Fudan University，Shanghai 200032，China

Received:2024-12-23 Revised:2025-01-08 Online:2025-02-28 Published:2025-03-07

摘要/Abstract

摘要：

精准医学时代的到来开启了罕见病的新型诊疗模式，多组学技术的发展也促进了罕见病精准表型的研究和临床应用。基因检测技术的飞速发展更是大大提高了罕见病的诊断效率，为其后续的精准治疗提供了分子生物学基础。如何把握这个历史机遇，促进罕见病诊疗的发展，如何让基因检测技术能更高效地进入临床，造福罕见病患者及家庭，实现罕见病的早诊早治，值得关注。文章从罕见病诊疗存在的困难和基因检测技术在罕见病诊疗中的应用前景入手，重点关注应用过程中的挑战，并提出可推广的应用模式。

关键词: 罕见病, 基因检测, 全外显子组测序

Abstract:

The advent of the era of precision medicine has opened up a new diagnosis and treatment model for rare disorders，and the development of multi-omics technology has also promoted the research and clinical application of precise phenotypes of rare disorders. The rapid development of genetic testing technology has improved the diagnostic efficiency of rare disorders and provides a molecular biological basis for their subsequent precision treatment. How to seize this opportunity to promote the development of rare disorder diagnosis and treatment，how to make genetic testing technology more efficiently in the clinic，benefit rare disorder patients and families，and achieve early diagnosis and treatment of rare disorders，deserve attention. Starting with the difficulties in the diagnosis and treatment of rare disorders and the application prospects of genetic testing technology in the diagnosis and treatment of rare disorders，this paper focuses on the challenges in the application process and proposes a popular application model.

Key words: Rare disorder, Genetic testing, Whole-genome sequencing

中图分类号:

R446.1

郭玮. 基因检测技术在罕见病诊疗中的应用前景及挑战[J]. 检验医学, 2025, 40(2): 105-108.

GUO Wei. Application prospects and challenges of genetic testing in the diagnosis of rare disorders[J]. Laboratory Medicine, 2025, 40(2): 105-108.

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基因检测技术在罕见病诊疗中的应用前景及挑战

Application prospects and challenges of genetic testing in the diagnosis of rare disorders

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