Department of Women, Children, & Family Health Science, University of Illinois at Chicago, 845 S. Damen Avenue (MC802), Room 840, Chicago, IL 60612, USA.
Soc Sci Med. 2012 May;74(10):1536-43. doi: 10.1016/j.socscimed.2012.02.003. Epub 2012 Mar 7.
Exponential growth in genomics has led to public and private initiatives worldwide that have dramatically increased the number of procreative couples who are aware of their ability to transmit genetic disorders to their future children. Understanding how couples process the meaning of being genetically at-risk for their procreative life lags far behind the advances in genomic and reproductive sciences. Moreover, society, policy makers, and clinicians are not aware of the experiences and nuances involved when modern couples are faced with using Preimplantation Genetic Diagnosis (PGD). The purpose of this study was to discover the decision-making process of genetically at-risk couples as they decide whether to use PGD to prevent the transmission of known single-gene or sex-linked genetic disorders to their children. A qualitative, grounded theory design guided the study in which 22 couples (44 individual partners) from the USA, who were actively considering PGD, participated. Couples were recruited from June 2009 to May 2010 from the Internet and from a large PGD center and a patient newsletter. In-depth semi-structured interviews were completed with each individual partner within the couple dyad, separate from their respective partner. We discovered that couples move through four phases (Identify, Contemplate, Resolve, Engage) of a complex, dynamic, and iterative decision-making process where multiple, sequential decisions are made. In the Identify phase, couples acknowledge the meaning of their at-risk status. Parenthood and reproductive options are explored in the Contemplate phase, where 41% of couples remained for up to 36 months before moving into the Resolve phase. In Resolve, one of three decisions about PGD use is reached, including: Accepting, Declining, or Oscillating. Actualizing decisions occur in the Engage phase. Awareness of the decision-making process among genetically at-risk couples provides foundational work for understanding critical processes and aids in identifying important gaps for intervention and future research.
基因组学的指数级增长导致全球范围内出现了公共和私人倡议，这些倡议大大增加了意识到自己有能力将遗传疾病传给未来孩子的生育夫妇的数量。尽管基因组学和生殖科学取得了进步，但夫妇如何理解自己在生育方面存在遗传风险的意义还远远落后。此外，社会、政策制定者和临床医生都没有意识到现代夫妇在面临使用胚胎植入前遗传学诊断（PGD）时所涉及的经验和细微差别。本研究的目的是发现遗传风险夫妇在决定是否使用 PGD 来防止已知的单基因或性连锁遗传疾病传给孩子时的决策过程。一项定性的、扎根理论的设计指导了这项研究，来自美国的 22 对夫妇（44 位个体伴侣）参与了这项研究。这些夫妇是从 2009 年 6 月到 2010 年 5 月从互联网和一个大型 PGD 中心以及一份患者通讯中招募的。对夫妇中的每一位个体伴侣都进行了深入的半结构化访谈，这些访谈是在夫妇二人各自分开的情况下进行的。我们发现，夫妇们经历了一个复杂、动态和迭代的决策过程的四个阶段（识别、思考、解决、参与），在这个过程中，他们做出了多个连续的决策。在识别阶段，夫妇们承认了他们处于高风险状态的意义。在思考阶段，夫妇们探讨了为人父母和生殖选择，其中 41%的夫妇在进入解决阶段之前最多会考虑 36 个月。在解决阶段，夫妇们做出了关于使用 PGD 的三个决定之一，包括：接受、拒绝或犹豫不决。在参与阶段，夫妇们会实际做出决定。了解遗传风险夫妇的决策过程为理解关键过程提供了基础，并有助于确定干预和未来研究的重要差距。
