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评估一个支持父母进行基因检测决策的交互式在线工具。

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.

作者信息

Adam Shelin, Birch Patricia H, Coe Rachel R, Bansback Nick, Jones Adrian L, Connolly Mary B, Demos Michelle K, Toyota Eric B, Farrer Matthew J, Friedman Jan M

机构信息

Department of Medical Genetics, University of British Columbia, Box 153, 4500 Oak Street, Vancouver, BC, V6H 3N1, Canada.

School of Population and Public Health, University of British Columbia, Vancouver, Canada.

出版信息

J Genet Couns. 2018 Jul 23. doi: 10.1007/s10897-018-0281-1.

Abstract

Clinical use of genome-wide sequencing (GWS) requires pre-test genetic counseling, but the availability of genetic counseling is limited. We developed an interactive online decision-support tool, DECIDE, to make genetic counseling, patient education, and decision support more readily available. We performed a non-inferiority trial comparing DECIDE to standard genetic counseling to assess the clinical value of DECIDE for pre-GWS counseling. One hundred and six parents considering GWS for their children with epilepsy were randomized to conventional genetic counseling or DECIDE. Following the intervention, we measured parents' knowledge and empowerment and asked their opinions about using DECIDE. Both DECIDE and conventional genetic counseling significantly increased parents' knowledge, with no difference between groups. Empowerment also increased but by less than 2% in each group. Parents liked using DECIDE and found it useful; 81% would recommend it to others; 49% wished to use it along with a genetic counselor; 26% of parents preferred to see a genetic counselor; 7% preferred DECIDE alone; and 18% had no preference. DECIDE appears equivalent to genetic counseling at conveying information. In addition, it was highly acceptable to the majority of study participants, many of whom indicated that it was useful to their decision-making. Use of DECIDE as a pre-test tool may extend genetic counseling resources.

摘要

全基因组测序(GWS)的临床应用需要进行检测前的遗传咨询,但遗传咨询服务的可及性有限。我们开发了一个交互式在线决策支持工具DECIDE,以使遗传咨询、患者教育和决策支持更容易获得。我们进行了一项非劣效性试验,将DECIDE与标准遗传咨询进行比较,以评估DECIDE在GWS检测前咨询中的临床价值。106位考虑为患有癫痫的孩子进行GWS检测的家长被随机分配接受传统遗传咨询或DECIDE咨询。干预后,我们评估了家长的知识水平和自主能力,并询问了他们对使用DECIDE的看法。DECIDE和传统遗传咨询均显著提高了家长的知识水平,两组之间无差异。自主能力也有所提高,但每组提高幅度均小于2%。家长们喜欢使用DECIDE并认为它很有用;81%的家长会向他人推荐;49%的家长希望与遗传咨询师一起使用;26%的家长更倾向于咨询遗传咨询师;7%的家长只选择DECIDE;18%的家长没有偏好。DECIDE在传达信息方面似乎与遗传咨询等效。此外,大多数研究参与者对它高度认可,其中许多人表示它对他们的决策很有帮助。将DECIDE用作检测前工具可能会扩展遗传咨询资源。

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