通过基因组查确定的儿科患者中推管理的执行
Juliann M Savatt1, Gretchen M Urban1, Alyson E Floyd1
1Department of Genomic Health, Geisinger, Danville, PA, United States.
Translational behavioral medicine
|November 5, 2025
概括
儿童的基因组查表明,虽然许多患有儿科发病结果的人得到了一些护理,但仍存在差距. 成人发病结果没有导致不适当的护理,缓解了对潜在危害的担忧.
科学领域:
- 基因组医学是一种基因组医学.
- 儿科医疗保健服务 儿科医疗保健服务
- 临床遗传学 临床遗传学
背景情况:
- 人口查识别了整个生命周期中疾病的基因组风险.
- 对于儿科基因组查的影响存在担忧,特别是对于儿科发病与成人发病的发现.
研究的目的:
- 在儿科参与者基因组风险识别后评估医疗保健行为.
- 评估为儿科发病的结果完成推的管理.
- 检查在儿童报告基因组结果研究 (PRoGRESS) 中对成人发病的不适当护理的发现.
主要方法:
- 从盖辛格MyCode生物银行招募了儿科参与者和亲属.
- 审查电子健康记录,以遵守推的护理后基因组结果披露.
- 专注于可操作基因中具有致病性/可能致病性 (P/LP) 变异的参与者.
主要成果:
- 31名参与者有儿科发病结果,34名有成人发病结果.
- 48%具有儿科发病结果的符合条件的参与者完全遵守护理;22%完成了一些护理.
- 没有参与者与成人发病结果从事不适当的护理.
结论:
- 许多儿科发病的基因组结果导致了一些管理,但仍然存在护理差距.
- 成人发病的基因组发现没有导致非推的护理,减轻了理论上的危害担忧.
- 有机会改善对儿科基因组查结果的下游护理便利化.
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