Are physicians prepared for whole genome sequencing? a qualitative analysis
Are physicians prepared for whole genome sequencing? a qualitative analysis
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DOI：
10.1111/cge.12626
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发表时间：
2016-02-01
影响因子：
3.5
通讯作者：
McGuire, A. L.
中科院分区：
文献类型：
--
作者：
Christensen, K. D.;Vassy, J. L.;McGuire, A. L.
虽然全基因组测序（WGS）整合到标准的医疗实践正在迅速成为可行的，医生可能没有准备好使用它。初级保健医生（PCP）和心脏病专家参加了随机临床试验的WGS接受基因组学教育，然后完成半结构化面试。通过基于团队的共识编码，在成绩单中确定了关于准备的主题。来自11名PCP和9名心脏病专家的数据表明，医生参加试验主要是为了为将来广泛使用WGS做准备。PCP关注他们的一般基因组知识，而心脏病学家关注如何解释特定类型的结果和次要发现。两个队列都希望在向患者披露结果之前，通过使用他们已经熟悉的教育资源进行广泛的准备，并且两个队列都希望根据需要向遗传学专家转诊。缺乏实验室指导，时间压力和缺乏标准导致了毫无准备的感觉。医生对他们使用WGS的准备工作有特殊的关注。调查结果确定了具体的政策变化，可以帮助医生感到更有准备，并强调如何提供所有类型的将需要熟悉解释WGS的结果。
Although the integration of whole genome sequencing (WGS) into standard medical practice is rapidly becoming feasible, physicians may be unprepared to use it. Primary care physicians (PCPs) and cardiologists enrolled in a randomized clinical trial of WGS received genomics education before completing semi-structured interviews. Themes about preparedness were identified in transcripts through team-based consensus-coding. Data from 11 PCPs and 9 cardiologists suggested that physicians enrolled in the trial primarily to prepare themselves for widespread use of WGS in the future. PCPs were concerned about their general genomic knowledge, while cardiologists were concerned about how to interpret specific types of results and secondary findings. Both cohorts anticipated preparing extensively before disclosing results to patients by using educational resources with which they were already familiar, and both cohorts anticipated making referrals to genetics specialists as needed. A lack of laboratory guidance, time pressures, and a lack of standards contributed to feeling unprepared. Physicians had specialty-specific concerns about their preparedness to use WGS. Findings identify specific policy changes that could help physicians feel more prepared, and highlight how providers of all types will need to become familiar with interpreting WGS results.