Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
Department of Medicine, Division of Hematology-Oncology, The University of Chicago, Chicago, USA.
Mol Genet Genomic Med. 2019 Sep;7(9):e898. doi: 10.1002/mgg3.898. Epub 2019 Aug 3.
While there is increasing interest in sharing genetic research results with participants, how best to communicate the risks, benefits and limitations of research results remains unclear.
Participants who received genetic research results answered open and closed-ended questions about their experiences receiving results and interest in and advantages and disadvantages of a web-based alternative to genetic counseling.
107 BRCA1/2 negative women with a personal or family history of breast cancer consented to receive genetic research results and 82% completed survey items about their experience. Most participants reported there was nothing they disliked (74%) or would change (85%) about their predisclosure or disclosure session (78% and 89%). They most frequently reported liking the genetic counselor and learning new information. Only 24% and 26% would not be willing to complete predisclosure counseling or disclosure of results by a web-based alternative, respectively. The most frequently reported advantages included convenience and reduced time. Disadvantages included not being able to ask questions, the risk of misunderstanding and the impersonal nature of the encounter.
Most participants receiving genetic research results report high satisfaction with telephone genetic counseling, but some may be willing to consider self-directed web alternatives for both predisclosure genetic education and return of results.
尽管人们越来越关注与参与者分享遗传研究成果，但如何最好地传达研究成果的风险、益处和局限性仍不清楚。
收到遗传研究结果的参与者回答了关于他们接受结果的经验、对基于网络的遗传咨询替代方案的兴趣以及其优缺点的开放式和封闭式问题。
107 名 BRCA1/2 阴性女性有个人或家族乳腺癌病史，同意接受遗传研究结果，其中 82%完成了关于他们接受结果的经验的调查项目。大多数参与者表示，他们对预先披露或披露会议没有任何不喜欢的地方（74%）或会改变的地方（85%）。他们最常报告喜欢遗传咨询师并学习新信息。只有 24%和 26%的人不愿意通过基于网络的替代方案完成预先披露咨询或披露结果。最常报告的优点包括方便和节省时间。缺点包括无法提问、误解风险和面谈的非个人性质。
大多数接受遗传研究结果的参与者报告对电话遗传咨询非常满意，但有些人可能愿意考虑自我指导的网络替代方案，用于预先披露遗传教育和结果返回。
