Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms.
Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms.
复制标题
DOI：
10.1002/ajmg.a.35328
复制
发表时间：
2012-06
影响因子：
2
通讯作者：
Bamshad, Michael J.
中科院分区：
文献类型：
--
作者：
Tabor, Holly K.;Stock, Jacquie;Brazg, Tracy;McMillin, Margaret J.;Dent, Karin M.;Yu, Joon-Ho;Shendure, Jay;Bamshad, Michael J.
缺乏关于全基因组测序（WGS）结果的隐私，保密和返回的伦理问题在多大程度上通过知情同意（IC）有效传达的科学证据。本研究的目的是通过定性访谈了解参与者对WGS风险、益处和危害的期望和看法。参与者在两个家庭与米勒综合征同意WGS采访了他们的经验，IC过程和他们的看法的风险，利益和危害的WGS。采访被转录和分析的共同主题。IC文件包含在补充材料中。与会者对他们参与和分享其在限制访问数据库中的WGS数据的隐私和保密性表示最小的关注。与会者对如何退回结果表示强烈的偏好，要求结果退回过程的灵活性和退回结果类型的选择。参与者对广泛共享WGS数据的隐私和保密风险的担忧可能会受到社会和医疗背景的强烈影响。在这些患有罕见孟德尔综合征的家庭中，参与的好处远远超过了对风险的担忧。个人对结果回报的偏好，即使在一个家庭中，也有很大的差异。这强调了需要开发一个结果返回框架，明确允许参与者的偏好，并允许随着时间的推移修改偏好。方便参与者管理其个人研究成果的网络工具可以适应这种框架。
Scientific evidence on the extent to which ethical concerns about privacy, confidentiality, and return of results for whole genome sequencing (WGS) are effectively conveyed by informed consent (IC) is lacking. The aim of this study was to learn, via qualitative interviews, about participant expectations and perceptions of risks, benefits, and harms of WGS. Participants in two families with Miller syndrome consented for WGS were interviewed about their experiences of the IC process and their perceptions of risks, benefits, and harms of WGS. Interviews were transcribed and analyzed for common themes. IC documents are included in the supplementary materials. Participants expressed minimal concerns about privacy and confidentiality with regard to both their participation and sharing of their WGS data in restricted access databases. Participants expressed strong preferences about how results should be returned, requesting both flexibility of the results return process and options for the types of results to be returned. Participant concerns about risks to privacy and confidentiality from broad sharing of WGS data are likely to be strongly influenced by social and medical context. In these families with a rare Mendelian syndrome, the perceived benefits of participation strongly trumped concerns about risks. Individual preferences, for results return, even within a family, varied widely. This underscores the need to develop a framework for results return that allows explicitly for participant preferences and enables modifications to preferences over time. Web-based tools that facilitate participant management of their individual research results could accommodate such a framework.
登录
查看更多内容
影响因子：
3.2
作者：
Hsieh, HF;Shannon, SE
通讯作者：
Shannon, SE
影响因子：
4.5
作者：
Pelak K;Shianna KV;Ge D;Maia JM;Zhu M;Smith JP;Cirulli ET;Fellay J;Dickson SP;Gumbs CE;Heinzen EL;Need AC;Ruzzo EK;Singh A;Campbell CR;Hong LK;Lornsen KA;McKenzie AM;Sobreira NL;Hoover-Fong JE;Milner JD;Ottman R;Haynes BF;Goedert JJ;Goldstein DB
通讯作者：
Goldstein DB
影响因子：
168.9
作者：
Ashley, Euan A.;Butte, Atul J.;Wheeler, Matthew T.;Chen, Rong;Klein, Teri E.;Dewey, Frederick E.;Dudley, Joel T.;Ormond, Kelly E.;Pavlovic, Aleksandra;Morgan, Alexander A.;Pushkarev, Dmitry;Neff, Norma F.;Hudgins, Louanne;Gong, Li;Hodges, Laura M.;Berlin, Dorit S.;Thorn, Caroline F.;Sangkuhl, Katrin;Hebert, Joan M.;Woon, Mark;Sagreiya, Hersh;Whaley, Ryan;Knowles, Joshua W.;Chou, Michael F.;Thakuria, Joseph V.;Rosenbaum, Abraham M.;Zaranek, Alexander Wait;Church, George M.;Greely, Henry T.;Quake, Stephen R.;Altman, Russ B.
通讯作者：
Altman, Russ B.
亚洲个体的二倍体基因组序列
影响因子：
64.8
作者：
Wang, Jun;Wang, Wei;Li, Ruiqiang;Li, Yingrui;Tian, Geng;Goodman, Laurie;Fan, Wei;Zhang, Junqing;Li, Jun;Zhang, Juanbin;Guo, Yiran;Feng, Binxiao;Li, Heng;Lu, Yao;Fang, Xiaodong;Liang, Huiqing;Du, Zhenglin;Li, Dong;Zhao, Yiqing;Hu, Yujie;Yang, Zhenzhen;Zheng, Hancheng;Hellmann, Ines;Inouye, Michael;Pool, John;Yi, Xin;Zhao, Jing;Duan, Jinjie;Zhou, Yan;Qin, Junjie;Ma, Lijia;Li, Guoqing;Yang, Zhentao;Zhang, Guojie;Yang, Bin;Yu, Chang;Liang, Fang;Li, Wenjie;Li, Shaochuan;Li, Dawei;Ni, Peixiang;Ruan, Jue;Li, Qibin;Zhu, Hongmei;Liu, Dongyuan;Lu, Zhike;Li, Ning;Guo, Guangwu;Zhang, Jianguo;Ye, Jia;Fang, Lin;Hao, Qin;Chen, Quan;Liang, Yu;Su, Yeyang;San, A.;Ping, Cuo;Yang, Shuang;Chen, Fang;Li, Li;Zhou, Ke;Zheng, Hongkun;Ren, Yuanyuan;Yang, Ling;Gao, Yang;Yang, Guohua;Li, Zhuo;Feng, Xiaoli;Kristiansen, Karsten;Wong, Gane Ka-Shu;Nielsen, Rasmus;Durbin, Richard;Bolund, Lars;Zhang, Xiuqing;Li, Songgang;Yang, Huanming;Wang, Jian
通讯作者：
Wang, Jian
影响因子：
64.8
作者：
Wheeler, David A.;Srinivasan, Maithreyan;Rothberg, Jonathan M.
通讯作者：
Rothberg, Jonathan M.