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评估基于多基因,多疾病的人口面板测试的实用性,考虑到透率估计的不确定性

Jane W Liang^1,2, Kurt D Christensen^3,4,5, Robert C Green^5,6,7,8

¹Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.

NPJ genomic medicine

|May 17, 2024

概括

面板生殖系检测有助于检测疾病变体,但需要了解好处和危害. 一种新的配方通过权衡变异频率,透率和患者特定的实用性来帮助组组的基因选择.

科学领域:

遗传学是一个遗传学.
医疗决策的制定医疗决策的制定
生物信息学是一种生物信息学.

背景情况:

面板生殖系检测提供了高效的多条件变异检测.
了解识别这些变异的好处和危害至关重要,但往往不清楚.

研究的目的:

提出一个多基因,多疾病的综合实用公式,用于评估基因纳入面板.
将变异频率,透率和患者的主观不实用性纳入决策框架.

主要方法:

开发了一个综合效用公式,考虑基因特定变异频率和估计的透率.
在没有疾病的积极测试结果和有疾病的负面结果中包含主观的不实用性.
计算了实用性的可信度间隔,以解决透率估计中的不确定性.

主要成果:

罕见的,高度透的有害变体通常在各种不实用性中产生积极的净效用.
具有中度或不确定的透率的变体的临床效用高度依赖于假定的不实用性.
可信度间隔有效量化透率估计中的不确定性及其对实用性的影响.

结论:

对于生殖基因测试小组的基因纳入决策应该整合变异频率,透率和主观效用.
考虑参数估计的不确定性对于可靠的决策至关重要.
提出的公式为基于经验数据和患者价值观的面板内容优化提供了一个框架.

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