Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UK.
Soc Sci Med. 2011 Jun;72(11):1743-51. doi: 10.1016/j.socscimed.2010.06.040. Epub 2010 Jul 29.
When parents, who are carriers of or are affected by a genetic disorder, make decisions about the health risks faced by their children, there may be multiple factors to consider. These may include the medical benefits, the parents' own experiences of learning about their genetic status, and the future autonomy of the child. Health professionals face the challenge of explaining the possible burdens as well as benefits of testing children, while promoting open communication within families about the risk of an inherited condition. While genetic consultations do not in themselves constitute decision making, parents nevertheless account for their actions and decisions in an attempt to display parental responsibility. In this paper we explore the accounting practices of parents in genetic consultations, focusing on how they articulate their responsibility with regard to testing their at-risk children for autosomal dominant polycystic kidney disease (PKD) and the communication issues surrounding the testing process and the disclosing of test results. Based on eight audio-recorded and transcribed genetic consultations from the UK, and drawing upon rhetorical discourse analysis, our findings suggest that (i) parents tend to foreground their practical 'lifeworld' considerations to justify their decisional actions; and (ii) there is considerable variation in the ways in which parents respond to information and advice offered by the professionals. The affected parent often presents their lifeworld concerns as outweighing, at least for the present moment, the longer term health benefits that might accrue to their children.
当携带或受遗传疾病影响的父母为其子女面临的健康风险做出决策时，可能需要考虑多个因素。这些因素可能包括医疗益处、父母自身了解遗传状况的经验，以及孩子的未来自主权。健康专业人员面临的挑战是既要解释测试儿童的可能负担和益处，又要促进家庭内部就遗传疾病风险进行开放的沟通。虽然遗传咨询本身并不构成决策，但父母仍会对自己的行为和决定负责，试图展示其养育责任。本文探讨了遗传咨询中父母的核算实践，重点关注他们如何阐明自己对风险子女进行常染色体显性多囊肾病 (PKD) 测试的责任，以及围绕测试过程和测试结果披露的沟通问题。本文基于来自英国的 8 次录音转录的遗传咨询，借鉴修辞话语分析，研究结果表明：(i) 父母往往强调其实际的“生活世界”考虑因素，以证明其决策行动的合理性；(ii) 父母对专业人员提供的信息和建议的反应方式存在很大差异。受影响的父母通常会将其生活世界的担忧置于首位，至少在当前时刻，优先考虑他们孩子可能获得的长期健康益处。
