听力损失相关基因的ClinGen复发表明,随着时间的推移,基因疾病有效性发生了显著的变化
Kezang C Tshering1, Marina T DiStefano2, Andrea M Oza1
1The Broad Institute of MIT and Harvard, Cambridge, MA.
概括
定期重新评估基因疾病关系 (GDRs) 对遗传测试准确性至关重要. ClinGen听力损失基因理专家小组发现,中度和强度GDR经常获得证据,导致随着时间的推移变化分类.
科学领域:
- 遗传学 是一个遗传学.
- 基因组医学是基因组医学.
- 临床基因组学 临床基因组学
背景情况:
- 临床基因组资源 (ClinGen) 听力损失基因治疗专家小组于2016年成立.
- 他们使用半定量框架策划了174种基因疾病关系 (GDR).
- ClinGen要求分类为有争议,有限,中度和强度的GDR每2-3年重新策划一次.
研究的目的:
- 评估周期性重复治疗对基因疾病关系 (GDR) 的分类的影响.
- 根据最新的证据和策划指南,评估GDR分类中的变化.
- 为了确定听力损失相关基因的分类变化的频率和性质.
主要方法:
- 三十五个符合两年复制标准的GDR被重新评估.
- 使用最新的ClinGen治愈指南,重新评估了现有证据.
- 进行了全面的文献审查,以确定新的支持或反驳证据.
主要成果:
- 在35个 (22%) 重新策划的GDR中,有8个经历了分类变化.
- 由于新的案例证据,两个中度和五个强度的GDR被升级为最终.
- 一个强大的GDR在评估疾病实体积分/分裂后被合并为一个最终的GDR;27个GDR保持不变.
结论:
- 最初被归类为中度和强度的GDR容易随着时间的推移积累证据和升级.
- 被归类为有限的GDR显示,获得实质性新证据的可能性较小.
- 通过结合最新的科学证据,定期复制对于保持基因测试和研究的准确性至关重要.
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