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Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2018-10-01 , DOI: 10.1038/s41436-018-0310-3
Saskia C Sanderson 1, 2 , Celine Lewis 1, 2 , Christine Patch 3, 4 , Melissa Hill 1, 2 , Maria Bitner-Glindzicz 1, 2 , Lyn S Chitty 1, 2
Affiliation  

PURPOSE Little is known about how health-care professionals communicate with patients about consenting to genome sequencing. We therefore examined what topics health-care professionals covered and what questions patients asked during consent conversations. METHODS Twenty-one genome sequencing consent appointments were audio recorded and analyzed. Participants were 35 individuals being invited to participate in the 100,000 Genomes Project (14 participants with rare diseases, 21 relatives), and 10 health-care professionals ("consenters"). RESULTS Two-thirds of participants' questions were substantive (e.g., genetics and inheritance); one-third administrative (e.g., filling in the consent form). Consenters usually (19/21) emphasized participant choice about secondary findings, but less often (13/21) emphasized the uncertainty about associated disease risks. Consenters primarily used passive statements and closed-ended, rather than open-ended, questions to invite participants' questions and concerns. In two appointments, one parent expressed negative or uncertain views about secondary findings, but after discussion with the other parent opted to receive them. CONCLUSION Health-care professionals need to be prepared to answer patients' questions about genetics to facilitate genome sequencing consent. Health-care professionals' education also needs to address how to effectively listen and elicit each patient's questions and views, and how to discuss uncertainty around the disease risks associated with secondary findings.

中文翻译:

打开基因组测序知情同意预约的“黑匣子”:一项多站点观察研究。

目的 关于医疗保健专业人员如何与患者就同意基因组测序进行沟通知之甚少。因此,我们检查了医疗保健专业人员涵盖的主题以及患者在同意对话期间提出的问题。方法 对 21 个基因组测序同意预约进行音频记录和分析。参与者是被邀请参加 10 万基因组计划的 35 人(14 名患有罕见疾病的参与者,21 名亲属)和 10 名医疗保健专业人员(“同意者”)。结果 三分之二的参与者的问题是实质性的(例如,遗传和遗传);三分之一的行政(例如,填写同意书)。同意者通常(19/21)强调参与者对次要发现的选择,但较少(13/21)强调相关疾病风险的不确定性。同意者主要使用被动陈述和封闭式而非开放式问题来邀请参与者提出问题和关注。在两次约会中,一位家长对次要发现表达了负面或不确定的看法,但在与另一位家长讨论后选择接受。结论 医疗保健专业人员需要准备好回答患者关于遗传学的问题,以促进基因组测序同意。卫生保健专业人员的教育还需要解决如何有效地倾听和引出每位患者的问题和观点,以及如何讨论与次要发现相关的疾病风险的不确定性。而不是开放式的问题,以邀请参与者提出问题和疑虑。在两次约会中,一位家长对次要发现表达了负面或不确定的看法,但在与另一位家长讨论后选择接受。结论 医疗保健专业人员需要准备好回答患者关于遗传学的问题,以促进基因组测序同意。卫生保健专业人员的教育还需要解决如何有效地倾听和引出每位患者的问题和观点,以及如何讨论与次要发现相关的疾病风险的不确定性。而不是开放式的问题,以邀请参与者提出问题和疑虑。在两次约会中,一位家长对次要发现表达了负面或不确定的看法,但在与另一位家长讨论后选择接受。结论 医疗保健专业人员需要准备好回答患者关于遗传学的问题,以促进基因组测序同意。卫生保健专业人员的教育还需要解决如何有效地倾听和引出每位患者的问题和观点,以及如何讨论与次要发现相关的疾病风险的不确定性。但在与另一位家长讨论后选择接受他们。结论 医疗保健专业人员需要准备好回答患者关于遗传学的问题,以促进基因组测序同意。卫生保健专业人员的教育还需要解决如何有效地倾听和引出每位患者的问题和观点,以及如何讨论与次要发现相关的疾病风险的不确定性。但在与另一位家长讨论后选择接受他们。结论 医疗保健专业人员需要准备好回答患者关于遗传学的问题,以促进基因组测序同意。卫生保健专业人员的教育还需要解决如何有效地倾听和引出每位患者的问题和观点,以及如何讨论与次要发现相关的疾病风险的不确定性。
更新日期:2018-10-01
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