医疗服务提供者如何与家庭讨论儿科外显子组测序的结果？
How do providers discuss the results of pediatric exome sequencing with families?
作者信息
Walser Sarah A, Werner-Lin Allison, Mueller Rebecca, Miller Victoria A, Biswas Sawona, Bernhardt Barbara A
机构信息
Translational Medicine & Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
School of Social Policy & Practice, University of Pennsylvania, Philadelphia, PA 19104, USA.
出版信息
Per Med. 2017 Sep;14(5):409-422. doi: 10.2217/pme-2017-0015. Epub 2017 Sep 4.
AIM
This study provides preliminary data on the process and content of returning results from exome sequencing offered to children through one of the Clinical Sequencing Exploratory Research (CSER) projects.
MATERIALS & METHODS: We recorded 25 sessions where providers returned diagnostic and secondary sequencing results to families. Data interpretation utilized inductive thematic analysis.
RESULTS
Typically, providers followed a results report and discussed diagnostic findings using technical genomic and sequencing concepts. We identified four provider processes for returning results: teaching genetic concepts; assessing family response; personalizing findings; and strengthening patient-provider relationships.
CONCLUSION
Sessions should reflect family interest in medical management and next steps, and minimize detailed genomic concepts. As the scope and complexity of sequencing increase, the traditional information-laden counseling model requires revision.
目的
本研究提供了关于通过临床测序探索性研究（CSER）项目之一向儿童提供外显子组测序结果返回过程和内容的初步数据。
材料与方法
我们记录了25次医疗服务提供者向家庭返回诊断和二次测序结果的过程。数据解读采用归纳主题分析法。
结果
通常，医疗服务提供者遵循结果报告，并使用技术基因组学和测序概念讨论诊断结果。我们确定了医疗服务提供者返回结果的四个过程：传授遗传概念；评估家庭反应；个性化结果；以及加强医患关系。
结论
会议应反映家庭对医疗管理和后续步骤的兴趣，并尽量减少详细的基因组概念。随着测序范围和复杂性的增加，传统的信息丰富的咨询模式需要修订。
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