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在移植候选人中进行选择性基因检测的务实方法
Pitchaphon Nissaisorakarn1, Paul K Fadakar2, Kassem Safa1
1Division of Nephrology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.
Frontiers in transplantation
|July 12, 2024
概括
在移植候选人和捐赠者的选择性基因测试中,超过30%的接受者和12%的捐赠者发现了致病变体,有助于风险分层和捐赠决策.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 遗传学 是一个遗传学.
- 移植医学 移植医学
背景情况:
- 基因测试的进步在移植中为诊断,治疗和风险分层提供了潜在的好处.
- 在移植脏病学中优化基因测试的应用需要明确的标准.
- 这项研究概述了移植中心对移植评估的选择性基因测试方法.
研究的目的:
- 描述移植候选人和捐赠者的选择性基因检测策略.
- 评估向基因测试的诊断产量和临床影响.
- 评估基因测试对风险分层和临床管理的影响.
主要方法:
- 具有特定标准 (例如,早期ESRD,FSGS,家族病史) 的接受者进行了测试.
- 根据年龄,关系和家族病史,对捐赠者进行了测试.
- 使用了385个基因的目标下一代测序 (NGS) 面板.
主要成果:
- 超过30%的符合条件的接受者对致病变体 (例如,APOL1,COL4A3/4/5) 呈阳性测试.
- 大约有12%的符合条件的捐赠者检测阳性,影响捐赠决策.
- 遗传发现有助于接受者的复发性疾病风险分层.
结论:
- 将选择性遗传检测纳入移植评估中,可以获得显著的诊断结果.
- 基因检测对临床管理,风险分层和移植决策有直接影响.
- 建议在接受移植评估的选定个体中广泛使用基因检测.
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