基因组测序的临床实用性是多维的:来自香港基因组项目经验
Annie Tsz Wai Chu1, Claudia Ching Yan Chung1,2, Ho Ming Luk3
1Hong Kong Genome Institute, Hong Kong Special Administrative Region, Hong Kong, China.
Communications medicine
|February 20, 2026
概括
基因组测序 (GS) 为罕见疾病诊断提供了多维的好处,积极的结果显著增加了临床实用性得分. 无论测试结果如何,心理社会效益是最高的,强调对基因测试的公平获取.
科学领域:
- 基因组学和遗传检测 基因组学和遗传检测
- 罕见疾病 罕见疾病
- 临床实用性评估 临床实用性评估
背景情况:
- 评估基因组测序 (GS) 的临床实用性对于明智的医疗保健决策至关重要.
- 临床医生报告的基因测试实用工具InDEx (C-GUIDE) 是一个验证的工具,用于量化GS实用性.
- 这项研究评估了香港基因组项目内的多种罕见疾病队列中的GS实用性.
研究的目的:
- 在罕见疾病群体中量化基因组测序的多维临床实用性.
- 评估基因检测结果对GS的整体临床实用性的影响.
- 探索患者特征对GS临床实用性的影响.
主要方法:
- 招募了疑似遗传疾病的成人和儿科患者.
- 临床遗传学家使用C-GUIDE工具中的17个项目评估了GS的实用性.
- 计算了C-GUIDE总得分,整体项目得分和个人项目得分.
主要成果:
- 对于245个试验者,完成了247次C-GUIDE评级;25%的GS结果为正.
- 积极的GS发现与C-GUIDE分数显著增加16.9分 (p < 0.001).
- 心理社会福利获得了最高的平均得分,不论GS结果如何;患者的特征并没有独立影响得分.
结论:
- 这项研究是亚太地区第一个和最大的,使用C-GUIDE评估GS临床效用.
- 临床效用主要取决于试验结果,而不是患者特征,支持公平的GS实施.
- 全国范围的基因组项目对于实现GS在医疗保健中的多维好处至关重要.
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