Anderson Rebecca L, Murray Kathleen, Chong Jessica X, Ouwenga Rebecca, Antillon Marina, Chen Peixian, Diaz de Leon Lorena, Swoboda Kathryn J, Lester Lucille A, Das Soma, Ober Carole, Waggoner Darrel J
Department of Human Genetics, University of Chicago, 5841 S. Maryland Ave. M/C 0077, Chicago, IL, 60637, USA.
J Genet Couns. 2014 Dec;23(6):984-91. doi: 10.1007/s10897-014-9721-8. Epub 2014 Apr 29.
There is currently extensive discussion and debate in the literature on how, when, and to whom genetic research results should be returned (see Genetics in Medicine, April 2012 issue). Here, we describe our experience in disclosing genetic information on Mendelian disorders discovered during the course of our research in the Hutterites. We first assessed attitudes toward the disclosure of carrier results, which revealed that many individuals wanted carrier information and that many intended to use the information in family planning. Based on this information, we developed a pilot study to test and disclose cystic fibrosis (CF) carrier status. Next, a larger scale project was developed in order to disclose genetic research results for 14 diseases to those interested in receiving the information. We developed brochures, offered a live interactive educational program, conducted a consent process, and disclosed results in letters mailed to the consented individuals. Overall, ~80% of individuals who participated in the educational program signed consent forms for the release of their results for 14 diseases. We describe our experience with returning individual genetic research results to participants in a population-based research study.
目前，文献中对于如何、何时以及向谁反馈基因研究结果存在广泛的讨论和争论（见《医学遗传学》，2012年4月期）。在此，我们描述在哈特派人群研究过程中发现的孟德尔疾病基因信息披露方面的经验。我们首先评估了对携带者结果披露的态度，结果显示许多人想要携带者信息，并且许多人打算在计划生育中使用该信息。基于这些信息，我们开展了一项试点研究来检测和披露囊性纤维化（CF）携带者状态。接下来，我们开展了一个更大规模的项目，以便向有兴趣获取信息的人披露14种疾病的基因研究结果。我们编写了手册，提供了一个实时互动教育项目，进行了知情同意程序，并通过邮寄信件向已同意的个体披露结果。总体而言，参与教育项目的个体中约80%签署了同意书，同意公布其14种疾病的结果。我们描述了在一项基于人群的研究中向参与者反馈个体基因研究结果的经验。
