Smith Jonathan A, Dancyger Caroline, Wallace Melissa, Jacobs Chris, Michie Susan
Department of Psychological Sciences, Birkbeck University of London, Malet St, London WC1E 7HX, UK.
J Genet Couns. 2011 Feb;20(1):23-34. doi: 10.1007/s10897-010-9317-x. Epub 2010 Sep 11.
It is important to study communication processes in families where members are undergoing testing for genetic conditions because the information received from such testing is crucial not just to the individual concerned but also to other members of the biological family. This topic has received little research attention, in part because of the complexities of methodology required. In this paper we present the development of a method specifically designed for the examination of the content and process of communication of genetic information in families. The method aims to maximize ecological validity as far as is possible. We describe how participants and other family members are recruited and how data were collected. We outline three main data analytic strategies: a graphic to show how genetic information changes as it flows from clinic and through the family, an intensive qualitative analysis of the meaning and impact of the genetic information to different family members, and an informative genogram which plots key family dynamics. This method will be illustrated in relation to a study of ten family-groups where one individual has been found to carry a genetic mutation predisposing them to hereditary breast and ovarian cancer.
研究家庭成员正在接受基因疾病检测的家庭中的沟通流程非常重要，因为从此类检测中获得的信息不仅对相关个体至关重要，对生物学意义上的其他家庭成员也至关重要。这个话题很少受到研究关注，部分原因是所需方法的复杂性。在本文中，我们介绍了一种专门设计用于检查家庭中基因信息沟通内容和流程的方法的开发过程。该方法旨在尽可能提高生态效度。我们描述了参与者和其他家庭成员是如何招募的以及数据是如何收集的。我们概述了三种主要的数据分析策略：一种图表展示基因信息从诊所流出并在家庭中传播时是如何变化的；对基因信息对不同家庭成员的意义和影响进行深入的定性分析；以及绘制关键家庭动态的信息丰富的系谱图。将通过一项对十个家庭群体的研究来说明这种方法，在这些家庭中，发现有一个个体携带使其易患遗传性乳腺癌和卵巢癌的基因突变。
