Experiences with obtaining informed consent for genomic sequencing
Experiences with obtaining informed consent for genomic sequencing
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DOI：
10.1002/ajmg.a.37256
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发表时间：
2015-11-01
影响因子：
2
通讯作者：
Skinner, Debra
中科院分区：
文献类型：
--
作者：
Bernhardt, Barbara A.;Roche, Myra I.;Skinner, Debra
尽管基因组和外显子组测序的利用率越来越高，但对测序知情同意的实际内容和过程知之甚少。我们通过采访29位遗传咨询师和研究协调员来解决这个问题，他们在获得研究和临床环境中测序的知情同意方面经验丰富。访谈的重点是知情同意的过程和内容;患者/参与者的常见问题、关切和误解;以及获得知情同意的挑战。转录访谈的内容分析显示，获得同意的主要挑战涉及广泛的范围和结果的不确定性，以及患者/参与者对结果的可能数量和效用的不切实际的期望。受访者根据围绕测试适应症、患者类型和测试时间的背景问题修改了他们的会话方法。根据经验，大多数受访者安排会议，不太强调同意书中的标准要素和测序的技术方面。相反，他们专注于解决误解，并帮助患者/参与者对可能结果的类型和影响（包括次要结果）形成现实的期望。这些发现表明，知情同意会议应关注可能被患者/参与者误解的关键问题。今后的研究应探讨各利益攸关方就知情同意的关键要素达成一致的程度。(c)2015 Wiley Periodicals，Inc.
Despite the increased utilization of genome and exome sequencing, little is known about the actual content and process of informed consent for sequencing. We addressed this by interviewing 29 genetic counselors and research coordinators experienced in obtaining informed consent for sequencing in research and clinical settings. Interviews focused on the process and content of informed consent; patients/participants' common questions, concerns and misperceptions; and challenges to obtaining informed consent. Content analysis of transcribed interviews revealed that the main challenges to obtaining consent related to the broad scope and uncertainty of results, and patient/participants' unrealistic expectations about the likely number and utility of results. Interviewees modified their approach to sessions according to contextual issues surrounding the indication for testing, type of patient, and timing of testing. With experience, most interviewees structured sessions to place less emphasis on standard elements in the consent form and technological aspects of sequencing. They instead focused on addressing misperceptions and helping patients/participants develop realistic expectations about the types and implications of possible results, including secondary findings. These findings suggest that informed consent sessions should focus on key issues that may be misunderstood by patients/participants. Future research should address the extent to which various stakeholders agree on key elements of informed consent. (c) 2015 Wiley Periodicals, Inc.