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心理科学如何为临床基因组测序的遗传咨询研究提供信息?

How can psychological science inform research about genetic counseling for clinical genomic sequencing?

作者信息

Khan Cynthia M, Rini Christine, Bernhardt Barbara A, Roberts J Scott, Christensen Kurt D, Evans James P, Brothers Kyle B, Roche Myra I, Berg Jonathan S, Henderson Gail E

机构信息

Department of Health Behavior, University of North Carolina-Chapel Hill, 312 Rosenau Hall, CB#7440, Chapel Hill, NC, 27599-7440, USA,

出版信息

J Genet Couns. 2015 Apr;24(2):193-204. doi: 10.1007/s10897-014-9804-6. Epub 2014 Dec 9.

Abstract

Next generation genomic sequencing technologies (including whole genome or whole exome sequencing) are being increasingly applied to clinical care. Yet, the breadth and complexity of sequencing information raise questions about how best to communicate and return sequencing information to patients and families in ways that facilitate comprehension and optimal health decisions. Obtaining answers to such questions will require multidisciplinary research. In this paper, we focus on how psychological science research can address questions related to clinical genomic sequencing by explaining emotional, cognitive, and behavioral processes in response to different types of genomic sequencing information (e.g., diagnostic results and incidental findings). We highlight examples of psychological science that can be applied to genetic counseling research to inform the following questions: (1) What factors influence patients' and providers' informational needs for developing an accurate understanding of what genomic sequencing results do and do not mean?; (2) How and by whom should genomic sequencing results be communicated to patients and their family members?; and (3) How do patients and their families respond to uncertainties related to genomic information?

摘要

下一代基因组测序技术(包括全基因组或全外显子组测序)正越来越多地应用于临床护理。然而,测序信息的广度和复杂性引发了一些问题,即如何以促进理解和做出最佳健康决策的方式,最好地向患者及其家属传达和反馈测序信息。要获得这些问题的答案需要多学科研究。在本文中,我们关注心理科学研究如何通过解释对不同类型基因组测序信息(如诊断结果和偶然发现)的情绪、认知和行为过程,来解决与临床基因组测序相关的问题。我们强调了可应用于遗传咨询研究的心理科学实例,以解答以下问题:(1)哪些因素会影响患者和医护人员对基因组测序结果的准确理解所需的信息需求?(2)基因组测序结果应如何以及由谁传达给患者及其家属?(3)患者及其家属如何应对与基因组信息相关的不确定性?

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