Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, MD, USA.
Reproductive and Adult Endocrinology, National Institute of Child Health and Human Development, National Institutes Health, Bethesda, MD, USA.
Eur J Hum Genet. 2018 May;26(5):622-630. doi: 10.1038/s41431-018-0105-7. Epub 2018 Feb 16.
To make an informed choice to participate in a genome sequencing study that may yield primary and secondary findings, one understands relevant information in the context of personal values. Consent forms to enroll in a sequencing study can be long and complex. The efficacy of the professional encounter to consider the information contained in the consent form and make an informed choice is unknown. Women diagnosed with primary ovarian insufficiency and eligible for a sequencing study were randomized to participate in one of two encounters with a genetic counselor: a consent intervention using a lower literacy, less dense form or a standard consent encounter. Data were complete for 188 of 225 participants. The average time was 32 min for the intervention and 34 min for the standard, with the intervention encounter generating more questions from participants. At six weeks following consent, no differences were found between the two groups in primary outcomes: 'sequencing benefits' knowledge (d = 0.12, 95%CI: -0.03,0.27), 'sequencing limitations' knowledge (d = 0.04, 95%CI: -0.13,0.21), expected personal benefits (d = -0.01, 95%CI: -0.26,0.23), and decisional conflict (d = 0.04, 95%CI: -0.14,0.21). Although intentions to learn secondary variants were high, only 60% (113) of participants made an informed choice as defined by the multi-dimensional model of informed choice. We found that a modified consent intervention was as effective as a standard encounter and led to more interaction. Our data suggest that making decisions to receive secondary findings may be particularly challenging and in need of further investigation to achieve informed choice.
为了在可能产生主要和次要发现的基因组测序研究中做出明智的选择，人们需要在个人价值观的背景下理解相关信息。参加测序研究的同意书可能很长且复杂。专业人员在考虑同意书中包含的信息并做出明智选择方面的效果是未知的。被诊断患有原发性卵巢功能不全且有资格参加测序研究的女性被随机分配参加两种遗传咨询师面谈中的一种：使用低文化程度、较少密集形式的同意书干预或标准同意书面谈。共有 225 名参与者中的 188 名完成了数据。干预的平均时间为 32 分钟，标准的为 34 分钟，干预面谈会引发参与者更多的问题。在同意后的六周内，两组之间的主要结果没有差异：“测序益处”知识（d=0.12，95%CI：-0.03，0.27）、“测序局限性”知识（d=0.04，95%CI：-0.13，0.21）、预期个人益处（d=-0.01，95%CI：-0.26，0.23）和决策冲突（d=0.04，95%CI：-0.14，0.21）。尽管参与者有很高的意愿了解次要变体，但只有 60%（113 名）的参与者根据多维知情选择模型做出了明智的选择。我们发现，修改后的同意书干预与标准面谈同样有效，并导致更多的互动。我们的数据表明，做出接受次要发现的决策可能特别具有挑战性，需要进一步研究以实现知情选择。
