Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results
Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results
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DOI：
10.1002/jgc4.1054
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发表时间：
2019-04-01
影响因子：
1.9
通讯作者：
Collins, Kathleen
中科院分区：
文献类型：
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作者：
Matias, Margret;Wusik, Katie;Collins, Kathleen
整个外显子组测序(WES)预计将影响患者管理，但围绕下游影响的类型以及这些影响被观察到的频率的数据有限，这取决于收到的WES结果的类型。这项研究调查了WES后医疗管理和遗传咨询(GC)选项的变化，这些变化对个人有积极和消极的结果。回顾辛辛那提儿童医院WES阳性(n=37)或阴性(n=41)患者的电子病历。分析了WES前后的管理和GC选项，以及积极和消极结果之间的差异。几乎所有参与者(97%)都被观察到在WES之后在医疗管理和/或GC选择方面至少有一个不同。WES治疗前后比较，差异有统计学意义(P
Whole exome sequencing (WES) is expected to impact patient management, but data surrounding the types of downstream effects and how frequently these effects are observed depending on the type of WES results received is limited. This study investigated changes to medical management and genetic counseling (GC) options following WES for individuals with positive and negative results. Electronic medical records of patients who had positive (n = 37) or negative (n = 41) WES results from Cincinnati Children's Hospital were retrospectively reviewed. Pre- and post-WES management and GC options were analyzed as were differences between positive and negative results. Almost all participants (97%) were observed to have at least one difference in medical management and/or GC options following WES. Comparing pre- and post-WES detected significant differences (p