Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age.
Preferences for return of incidental findings from genome sequencing among women diagnosed with breast cancer at a young age.
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DOI：
10.1111/cge.12597
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发表时间：
2016-03
影响因子：
3.5
通讯作者：
Goodman MS
中科院分区：
文献类型：
--
作者：
Kaphingst KA;Ivanovich J;Biesecker BB;Dresser R;Seo J;Dressler LG;Goodfellow PJ;Goodman MS
虽然专家们提出了建议，但需要了解患者希望返回的基因组测序结果。我们调查了年轻时被诊断患有乳腺癌的女性希望返回的结果以及原因。我们对40岁或以下被诊断患有乳腺癌的女性进行了60次半结构化的面对面个人访谈。我们研究了六种类型的偶然发现的兴趣和兴趣或不感兴趣的每一种类型的原因。两名编码员独立编码访谈记录;使用NVivo 10进行分析。大多数参与者对所有六种结果类型至少有点兴趣，但最大的兴趣是可操作的结果（即，影响可预防或可治疗疾病风险和治疗反应的变异）。不同的结果类型引起兴趣的原因各不相同。一些参与者对目前不被视为可采取行动的结果不感兴趣或态度矛盾。参与者希望能够选择返回什么结果。参与者区分了个体基因组测序结果的类型，需要不同类型信息的原因不同。研究结果表明，在制定返还个人基因组测序结果的政策时，关注可操作的结果可以成为所有利益相关者的共同点。
While experts have made recommendations, information is needed regarding what genome sequencing results patients would like returned. We investigated what results women diagnosed with breast cancer at a young age would want returned and why. We conducted 60 semi-structured, in-person individual interviews with women diagnosed with breast cancer at age 40 or younger. We examined interest in six types of incidental findings and reasons for interest or disinterest in each type. Two coders independently coded interview transcripts; analysis was conducted using NVivo 10. Most participants were at least somewhat interested in all six result types, but strongest interest was in actionable results (i.e., variants affecting risk of a preventable or treatable disease and treatment response). Reasons for interest varied between different result types. Some participants were not interested or ambivalent about results not seen as currently actionable. Participants wanted to be able to choose what results are returned. Participants distinguished between types of individual genome sequencing results, with different reasons for wanting different types of information. The findings suggest that a focus on actionable results can be a common ground for all stakeholders in developing a policy for returning individual genome sequencing results.