Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists.
Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists.
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定义基因检测知情同意的关键教育组成部分：美国遗传咨询师和医学遗传学家的观点。
DOI：
10.1038/s41431-023-01401-0
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发表时间：
2023
期刊：
影响因子：
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通讯作者：
Ormond,KellyE
中科院分区：
文献类型：
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作者：
Hallquist,MirandaLG;Borensztein,MaiaJ;Coughlin2nd,CurtisR;Buchanan,AdamH;AndrewFaucett,W;Peay,HollyL;Smith,MaureenE;Tricou,EricP;Uhlmann,WendyR;Wain,KarenE;Ormond,KellyE
临床基因组资源（ClinGen）同意和披露建议（CADRe）框架提出，基因检测知情同意的关键组成部分可以通过针对许多条件的有针对性的讨论来涵盖，而不是时间密集的传统遗传咨询方法。我们调查了美国遗传学专业人员（医学遗传学家和遗传咨询师）对在事先专家共识过程中制定的临床基因检测核心知情同意概念的反应。匿名在线调查包括对3种（6种可能的）不同临床场景的回答，这些场景总结了核心概念的应用。有一个二元（是/否）问题，询问受访者是否同意这些情景包括最低限度的必要和关键的教育概念，以便做出知情的决定。然后，受访者就哪些概念缺失或可以删除提供了开放式反馈。238名受访者至少完成了一个场景。除了一种情况外，超过65%的受访者认为所描述的概念足以做出明智的决定;外显子组情况的一致性最低（58%）。对开放式评论意见的定性分析表明，没有一致提到的概念需要增加或删除。与示例场景的一致性水平表明，我们先前工作中提出的试验前知情同意的最低关键教育成分是有针对性的试验前讨论的合理起点。这可能有助于为遗传学和非遗传学提供者的临床实践提供一致性、满足患者的信息需求、定制心理社会支持的同意以及未来的指南制定。
The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendation (CADRe) framework proposes that key components of informed consent for genetic testing can be covered with a targeted discussion for many conditions rather than a time-intensive traditional genetic counseling approach. We surveyed US genetics professionals (medical geneticists and genetic counselors) on their response to scenarios that proposed core informed consent concepts for clinical genetic testing developed in a prior expert consensus process. The anonymous online survey included responses to 3 (of 6 possible) different clinical scenarios that summarized the application of the core concepts. There was a binary (yes/no) question asking respondents whether they agreed the scenarios included the minimum necessary and critical educational concepts to allow an informed decision. Respondents then provided open-ended feedback on what concepts were missing or could be removed. At least one scenario was completed by 238 respondents. For all but one scenario, over 65% of respondents agreed that the identified concepts portrayed were sufficient for an informed decision; the exome scenario had the lowest agreement (58%). Qualitative analysis of the open-ended comments showed no consistently mentioned concepts to add or remove. The level of agreement with the example scenarios suggests that the minimum critical educational components for pre-test informed consent proposed in our prior work is a reasonable starting place for targeted pre-test discussions. This may be helpful in providing consistency to the clinical practice of both genetics and non-genetics providers, meeting patients’ informational needs, tailoring consent for psychosocial support, and in future guideline development.