"My funky genetics": BRCA1/2 mutation carriers' understanding of genetic inheritance and reproductive merger in the context of new reprogenetic technologies.
"My funky genetics": BRCA1/2 mutation carriers' understanding of genetic inheritance and reproductive merger in the context of new reprogenetic technologies.
复制标题
《我的时髦遗传学》：BRCA1/2突变携带者在新的生殖技术背景下对基因遗传和生殖融合的理解。
DOI：
10.1037/a0028434
复制
发表时间：
2012
期刊：
影响因子：
--
通讯作者：
Sagi,Michal
中科院分区：
文献类型：
--
作者：
Werner-Lin,Allison;Rubin,LisaR;Doyle,Maya;Stern,Rikki;Savin,Katie;Hurley,Karen;Sagi,Michal
BRCA1/BRCA2基因的有害突变会增加乳腺癌和卵巢癌的终生风险。突变阳性父母的每个孩子都有50%的机会继承这种疾病。植入前基因诊断(PGD)允许未来的父母避免出生BRCA突变阳性的孩子，将可预测性引入到历史上由机会定义的过程中。这项调查探索了BRCA1/2突变携带者如何理解遗传遗传，并考虑在存在追求PGD的机会的情况下，儿童遗传BRCA1/2突变。39名育龄女性和男性BRCA1/2突变携带者来自城市癌症和生殖医学中心。参与者完成了关于PGD和产前诊断的标准化教育演示，并进行了测试前和测试后的评估。一个由定性研究人员组成的跨学科团队使用扎根的理论技术分析数据。与会者认为，生殖产生的孩子具有独特的遗传优势和挑战，包括BRCA1/2突变、尚不存在预测测试的家族特征，以及假设的遗传风险。参与者表达了对血缘关系良好的孩子的偏好，但他们表示，他们基因上“好”的伴侣的血统将因生育合并而受到破坏，要求好的伴侣通过他们的孩子承担BRCA1/2突变的负担。与会者对遗传条件良好的伴侣参与计划生育和风险管理决策表达了不同的看法。随着遗传易感性检测变得越来越普遍，使用再生产技术的压力可能会增加。与疾病谱系中的个人和夫妇合作，必须与关于遗传遗传的信念在生殖决策中发挥作用的方式相协调。
Deleterious mutations in the BRCA1/BRCA2 genes elevate lifetime risk of breast and ovarian cancer. Each child of a mutation-positive parent has a 50% chance of inheriting it. Preimplantation genetic diagnosis (PGD) permits prospective parents to avoid the birth of a BRCA-mutation-positive child, introducing predictability into a process historically defined by chance. This investigation explored how BRCA1/2 mutation carriers understand genetic inheritance and consider a child's inheritance of a BRCA1/2 mutation, given the opportunities that exist to pursue PGD. Thirty-nine female and male BRCA1/2 mutation carriers of reproductive age were recruited from urban cancer and reproductive medical centers. Participants completed a standardized educational presentation on PGD and prenatal diagnosis, with pre-and posttest assessments. An interdisciplinary team of qualitative researchers analyzed data using grounded theory techniques. Participants expressed the belief that reproduction yields children with unique genetic strengths and challenges, including the BRCA1/2 mutation, family traits for which predictive tests do not exist, and hypothetical genetic risks. Participants expressed preference for biologically related children, yet stated their genetically “well” partner's lineage would be marred through reproductive merger, requiring the well partner to assume the burden of the BRCA1/2 mutation via their children. Participants expressed diverse views of genetically “well” partners' participation in family planning and risk management decisions. Pressure to use reprogenetic technology may grow as genetic susceptibility testing becomes more widely available. Work with individuals and couples across the disease spectrum must be attuned to the ways beliefs about genetic inheritance play into reproductive decision-making.
登录
查看更多内容
出生与制造：植入前基因诊断的民族志
DOI：
--
发表时间：
2006
期刊：
影响因子：
--
作者：
S. Franklin;C. Roberts
通讯作者：
C. Roberts
DOI：
10.1001/jama.280.18.1636
发表时间：
1998-11
期刊：
JAMA
影响因子：
--
作者：
R. Santos
通讯作者：
R. Santos
影响因子：
2.1
作者：
Ehrich, Kathryn;Williams, Clare
通讯作者：
Williams, Clare
生殖遗传学、性别和身体：“请问医生，我可以生一个正常的婴儿吗？”
影响因子：
2.9
作者：
E. Ettorre
通讯作者：
E. Ettorre
基因图谱和人类想象力：科学在理解我们是谁方面的局限性
DOI：
10.2307/3089258
发表时间：
1998
期刊：
Health, Risk & Society
影响因子：
--
作者：
B. Rothman
通讯作者：
B. Rothman