改善风险预测研究中的多基因分数报告标准
Hannah Wand1,2, Samuel A Lambert3,4,5,6,7, Cecelia Tamburro8
1Stanford University School of Medicine, Stanford, CA, USA.
Nature
|March 11, 2021
概括
针对多基因风险评分 (PRS) 的新报告标准旨在改善临床使用. 这些标准解决了PRS应用和报告中的异质性,促进了更好的遗传疾病风险预测的透明度和可重复性.
科学领域:
- 遗传学和基因组学
- 流行病学
- 临床翻译
背景情况:
- 多基因风险评分 (PRS) 汇总全基因组关联研究数据以估计遗传疾病风险.
- 在PRS应用和报告中的异质性阻碍了临床转化.
- 现有的报告准则需要更新以反映PRS发展和验证的现状.
研究的目的:
- 提出多基因风险评分报告标准 (PRS-RS),更新基因风险预测研究 (GRIPS) 声明.
- 建立一个全面的框架来解释和评估临床应用的PRS.
- 促进PRS研究中的数据可用性,透明度和可复制性.
主要方法:
- 临床基因组资源 (ClinGen) 复杂疾病工作组与多基因分数 (PGS) 目录之间的合作.
- 纳入流行病学,统计学,特定疾病应用,实施和政策方面的专家意见.
- 制定一个结构化的报告框架,定义PRS解释和评估的最低信息.
主要成果:
- PRS-RS提供了研究群体的详细标准,PRS开发和验证的统计方法以及限制.
- 强调数据的可用性和透明度,鼓励在PGS目录中进行PRS存款.
- 一个结构化的格式,建立在现有的标准和本体论上,以实现一致的报告.
结论:
- 特别是在临床应用中,PRS-RS可促进PRS的解释和评估.
- 遵守这些标准将提高PRS的可复制性和比较性.
- 预计PRS-RS的实施将加速PRS转化为临床护理,并确定最佳实践.
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