Gordon Deborah R, Radecki Breitkopf Carmen, Robinson Marguerite, Petersen Wesley O, Egginton Jason S, Chaffee Kari G, Petersen Gloria M, Wolf Susan M, Koenig Barbara A
a Department of Anthropology, History and Social Medicine , University of California, San Francisco.
b Department of Health Sciences Research , Mayo Clinic.
AJOB Empir Bioeth. 2019 Jan-Mar;10(1):1-22. doi: 10.1080/23294515.2018.1546241. Epub 2018 Dec 31.
Genomic analysis may reveal both primary and secondary findings with direct relevance to the health of probands' biological relatives. Researchers question their obligations to return findings not only to participants but also to family members. Given the social value of privacy protection, should researchers offer a proband's results to family members, including after the proband's death?
Preferences were elicited using interviews and a survey. Respondents included probands from two pancreatic cancer research resources, plus biological and nonbiological family members. Hypothetical scenarios based on actual research findings from the two cancer research resources were presented; participants were asked return of results preferences and justifications. Interview transcripts were coded and analyzed; survey data were analyzed descriptively.
Fifty-one individuals (17 probands, 21 biological relatives, 13 spouses/partners) were interviewed. Subsequently, a mailed survey was returned by 464 probands, 1,040 biological family members, and 399 spouses/partners. This analysis highlights the interviews, augmented by survey findings. Probands and family members attribute great predictive power and lifesaving potential to genomic information. A majority hold that a proband's genomic results relevant to family members' health ought to be offered. While informants endorse each individual's choice whether to learn results, most express a strong moral responsibility to know and to share, particularly with the younger generation. Most have few concerns about sharing genetic information within the family; rather, their concerns focus on the health consequences of not sharing.
Although additional studies in diverse populations are needed, policies governing return of genomic results should consider how families understand genomic data, how they value confidentiality within the family, and whether they endorse an ethics of sharing. A focus on respect for individual privacy-without attention to how the broad social and cultural context shapes preferences within families-cannot be the sole foundation of policy.
基因组分析可能揭示与先证者生物学亲属健康直接相关的主要和次要发现。研究人员质疑他们不仅有义务将发现结果反馈给参与者，还应反馈给家庭成员。鉴于隐私保护的社会价值，研究人员是否应该将先证者的结果告知家庭成员，包括先证者去世后？
通过访谈和调查来了解偏好。受访者包括来自两个胰腺癌研究资源库的先证者，以及生物学和非生物学家庭成员。呈现基于这两个癌症研究资源库实际研究结果的假设情景；询问参与者对结果反馈的偏好及理由。对访谈记录进行编码和分析；对调查数据进行描述性分析。
对51人（17名先证者、21名生物学亲属、13名配偶/伴侣）进行了访谈。随后，464名先证者、1040名生物学家庭成员和399名配偶/伴侣回复了邮寄的调查问卷。本分析突出了访谈情况，并辅以调查结果。先证者和家庭成员认为基因组信息具有强大的预测能力和挽救生命的潜力。大多数人认为应该提供与家庭成员健康相关的先证者基因组结果。虽然受访者认可每个人是否了解结果的选择，但大多数人表示有强烈的道德责任去了解并分享，尤其是与年轻一代分享。大多数人对在家庭内部分享遗传信息几乎没有顾虑；相反，他们的担忧集中在不分享所带来的健康后果上。
尽管需要在不同人群中开展更多研究，但关于基因组结果反馈的政策应考虑家庭如何理解基因组数据、他们如何重视家庭内部的保密性，以及他们是否认可共享伦理。仅关注尊重个人隐私而不考虑广泛的社会和文化背景如何塑造家庭内部的偏好，不能成为政策的唯一基础。
