Do Participants in Genome Sequencing Studies of Psychiatric Disorders Wish to Be Informed of Their Results? A Survey Study
Do Participants in Genome Sequencing Studies of Psychiatric Disorders Wish to Be Informed of Their Results? A Survey Study
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DOI：
10.1371/journal.pone.0101111
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发表时间：
2014-07-01
期刊：
影响因子：
3.7
通讯作者：
McMahon, Francis J.
中科院分区：
文献类型：
--
作者：
Bui, Elise T.;Anderson, Natalie K.;McMahon, Francis J.
目的：随着大规模基因组测序技术的进步，围绕向研究志愿者报告个人发现的担忧日益增加，并引发了争议。在心理健康研究中尤其如此，因为测序结果的临床重要性尤其不清楚。伦理、法律和社会问题正在被广泛讨论，但很少有人知道实际的研究志愿者对测序研究的态度，或者他们希望团队对他们的DNA序列及其健康影响的看法。本研究提供了有关精神病学研究志愿者在参与DNA测序研究和报告个人结果方面的态度、信念和关注的信息。方法：我们使用我们开发的问卷进行了一项试点研究，以评估正在进行的双相情感障碍家庭研究中的志愿者如果接受基因组测序，他们希望获得哪些信息，他们将如何处理这些信息，以及他们可能会有哪些担忧。结果：几乎所有的受访者都愿意参与基因组测序。大多数答复者希望了解其所有与健康有关的遗传风险，包括无法预防或治疗的疾病风险。然而，很少有受访者对基因组测序的性质或其对其健康、保险或后代的影响有充分的了解。结论：尽管研究志愿者普遍对基因组测序持积极态度，但大多数人并没有完全意识到基因组测序带来的特殊问题。在关于报告基因组测序的个人发现的辩论中，应该考虑研究志愿者的态度。
Objective: As large-scale genome sequencing technology advances, concerns surrounding the reporting of individual findings to study volunteers have grown and fueled controversy. This is especially true in mental health research, where the clinical importance of sequencing results is particularly unclear. The ethical, legal, and social issues are being widely debated, but less is known about the attitudes of actual study volunteers toward sequencing studies or what they wish to team about their DNA sequence and its health implications. This study provides information on psychiatric research volunteers' attitudes, beliefs, and concerns with respect to participation in DNA sequencing studies and reporting of individual results.Method: We conducted a pilot study using a questionnaire that we developed to assess what information volunteers in an ongoing family study of bipolar disorder would like to receive if they underwent genome sequencing, what they would do with that information, and what concerns they may have.Results: Almost all of the respondents were willing to participate in genome sequencing. Most respondents wished to be informed about all their health-related genetic risks, including risks for diseases without known prevention or treatment. However, few respondents felt well informed about the nature of genome sequencing or its implications for their health, insurability, or offspring.Conclusions: Despite generally positive attitudes toward genome sequencing among study volunteers, most are not fully aware of the special issues raised by genome sequencing. The attitudes of study volunteers should be considered in the debate about the reporting of individual findings from genome sequencing.