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与针对性基因定型相比,DPYD测序识别出了更多临床相关的变异
Ann M Moyer1, Emma Lundquist1, Emily K Thoreson1
1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.
Clinical chemistry
|March 9, 2026
概括
DPYD测序识别出更多的DPYD变异与胺毒性相关,而不是针对性基因定型. 需要一个标准化的分类系统来实现一致的变体解释和提高患者安全.
科学领域:
- 药物基因组学 药物基因组学
- 临床化学 临床化学
- 分子诊断学 分子诊断学
背景情况:
- 对DPYD的测试对于识别患有胺化学疗法严重毒性风险的患者至关重要.
- 测序方法在检测罕见的DPYD变异方面是有效的,但这些需要准确的分类以获得临床实用性.
研究的目的:
- 评估DPYD测序的诊断产量与向基因型化策略相比.
- 评估实验室协议,ClinVar和CPIC专家小组名称之间的变异分类的一致性.
- 突出需要在药物基因组学中进行标准化变异分类.
主要方法:
- 对DPYD测序结果在9年时间 (至2024年) 的分析.
- 针对性基因型化 (AMP Tier 1 & 2) 和全面测序之间的阳性测试率的比较.
- 评估变种分类与ClinVar和CPIC指南的一致性.
主要成果:
- 在12.79%的受试者中发现了DPYD变异,其中2.53%被归类为具有不确定意义的变异.
- 与测序相比,有针对性的基因型鉴定 (AMP Tier 1或Tiers 1 & 2) 会发现较少的风险患者.
- 通过测序识别的非AMP级别1/2变异中,很大一部分未被CPIC分类或未在ClinVar中报告,尽管分类中的一般一致性.
结论:
- DPYD测序提供了比目标基因型定型更全面的方法,检测到26%的可报告变异.
- 由于缺乏标准化的分类系统,对药物基因组变异的一致解释提出了挑战.
- 实施变种分类的标准框架对于过渡到测序和确保患者安全至关重要.
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