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向家庭成员分享外显子组测序结果的意愿:探索配偶的信念和态度。

Intentions to share exome sequencing results with family members: exploring spousal beliefs and attitudes.

机构信息

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, MD, USA.

Behavioral Research Program, National Cancer Institute, National Institutes Health, Bethesda, MD, USA.

出版信息

Eur J Hum Genet. 2018 May;26(5):735-739. doi: 10.1038/s41431-018-0118-2. Epub 2018 Feb 23.

Abstract

Given familial implications of genetic information, it is important to understand intentions to share carrier results with family members. To our knowledge, no studies among individuals undergoing exome sequencing have used dyadic data analysis to examine the effect of spousal perceptions and beliefs. Survey responses from 136 individuals (68 couples) undergoing exome sequencing in a research study were analyzed using dyadic analysis (the actor-partner interdependence model). Intention to share carrier results with family members was correlated between spouses (ICC = 0.43; 95% CI: 0.21-0.61; p = 0.004), as was worry about risk of a genetic condition in the family (ICC = 0.45; 95% CI: 0.24-0.62; p < 0.001). Perceived value of result and worry about risk of a genetic condition in the family were associated with one's own intentions to share carrier results. However, spousal status on these variables did not explain additional variance in an individual's intentions. Although we found no partner effects on intentions, spouses have comparable intentions to share carrier results, suggesting it may be important to account for non-independence in other research studies.

摘要

鉴于遗传信息的家族影响,了解与家庭成员分享携带者结果的意图非常重要。据我们所知,在接受外显子组测序的个体中,没有研究使用对偶数据分析来检查配偶的看法和信念的影响。对在研究中接受外显子组测序的 136 名个体(68 对夫妇)的调查回复进行了对偶分析(行为者-伙伴相互依存模型)。配偶之间的家庭成员分享携带者结果的意愿呈正相关(ICC=0.43;95%CI:0.21-0.61;p=0.004),对家族中遗传状况风险的担忧也呈正相关(ICC=0.45;95%CI:0.24-0.62;p<0.001)。对结果的感知价值和对家族中遗传状况风险的担忧与个人分享携带者结果的意愿有关。然而,配偶在这些变量上的状况并不能解释个体意愿的额外差异。尽管我们没有发现伴侣对意图的影响,但配偶有类似的分享携带者结果的意愿,这表明在其他研究中可能需要考虑非独立性。

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Diagnostic clinical genome and exome sequencing.诊断性临床基因组和外显子组测序
N Engl J Med. 2014 Jun 19;370(25):2418-25. doi: 10.1056/NEJMra1312543.

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