Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Fam Cancer. 2011 Mar;10(1):87-96. doi: 10.1007/s10689-010-9385-y.
Objective of this paper is to study how DNA-test result information was communicated and perceived within families. A retrospective descriptive study in 13 probands with a BRCA1/2 unclassified variant, 7 with a pathogenic mutation, 5 with an uninformative result, and in 44, 14, and 12 of their 1st and 2nd degree relatives respectively. We examined differences and correlations between: (a) information actually communicated (b) probands' perception, (c) relatives' perception. The perception consisted of recollections and interpretations of both their own and their relatives' cancer-risks, and heredity-likelihood (i.e. likelihood that cancer is heritable in the family). Differences and low correlations suggested few similarities between the actually communicated information, the probands' and the relatives' perception. More specifically, probands recalled the communicated information differently compared with the actually communicated information (R = .40), and reinterpreted this information differently (R = .30). The relatives' perception was best correlated with the proband's interpretation (R = .08), but this perception differed significantly from their proband's perception. Finally, relatives reinterpreted the information they received from their proband differently (R = .25), and this interpretation was only slightly related with the original message communicated by the genetic-counsellor (R = .15). Unclassified-variants were most frequently misinterpreted by probands and relatives, and had the largest differences between probands' and relatives' perceptions. Like in a children's whisper-game, many errors occur in the transmission of DNA-test result information in families. More attention is required for how probands disseminate information to relatives. Genetic-counsellors may help by supporting the probands in communicating to relatives, e.g. by providing clear summary letters for relatives.
本文旨在研究 DNA 测试结果信息在家庭中是如何传递和感知的。这是一项回顾性描述性研究，涉及 13 名携带 BRCA1/2 未分类变异的先证者、7 名携带致病性突变的先证者、5 名携带无意义结果的先证者，以及他们的 1 级和 2 级亲属分别为 44、14 和 12 人。我们检查了以下方面的差异和相关性：（a）实际传递的信息；（b）先证者的感知；（c）亲属的感知。感知包括对自身和亲属的癌症风险以及遗传可能性（即癌症在家族中具有遗传性的可能性）的回忆和解释。差异和低相关性表明，实际传递的信息、先证者和亲属的感知之间很少有相似之处。具体来说，先证者对传递的信息的回忆与实际传递的信息不同（R =.40），并且对这些信息的解释也不同（R =.30）。亲属的感知与先证者的解释最相关（R =.08），但这种感知与先证者的感知存在显著差异。最后，亲属对他们从先证者那里收到的信息进行了不同的重新解释（R =.25），这种解释与遗传咨询师最初传递的信息仅略有相关（R =.15）。未分类的变异最常被先证者和亲属误解，并且先证者和亲属之间的感知差异最大。就像儿童的耳语游戏一样，在家庭中传递 DNA 测试结果信息会出现许多错误。需要更多关注先证者向亲属传播信息的方式。遗传咨询师可以通过支持先证者向亲属传达信息来提供帮助，例如为亲属提供清晰的总结信。
