Michie Susan, Smith Jonathan A, Senior Victoria, Marteau Theresa M
Department of Psychology, University College London, London, United Kingdom.
Am J Med Genet A. 2003 Jun 15;119A(3):340-7. doi: 10.1002/ajmg.a.20200.
A proportion of those receiving negative results following predictive genetic testing desire future bowel screening. This is despite a negative result meaning a general population risk of 1:7500 and despite bowel screening being experienced as aversive and clinically unnecessary. This study aimed to investigate perceptions of risk, illness, and tests amongst those receiving negative results following predictive genetic testing. Interviews with nine people receiving negative genetic test results for familial adenomatous polyposis (FAP) were analyzed using the qualitative method, interpretative phenomenological analysis (IPA). Those not reassured by negative genetic test results perceived a continuing risk to themselves and to their children. Two sets of perceptions emerged that might explain this: (1). perceptions of the genetic basis of the condition (FAP). Although the condition was perceived to be genetic, genetic status was seen as transient, so a result today could not predict the future. The condition was also seen as caused by factors other than genes, so information about only one risk factor could not be reassuring. (2). Perceptions of the genetic test. There was a lack of conviction in the ability of the genetic test, based on a blood sample, to predict a disease located in the bowel. These results suggest that some individuals receiving negative test results are not reassured because of their representations of the cause of their condition and the nature of the tests they undergo. It may be that eliciting and, when appropriate, changing people's representations prior to testing may enable those receiving negative results to be more reassured about their residual risk.
在接受预测性基因检测结果为阴性的人群中，有一部分人希望未来进行肠道筛查。尽管阴性结果意味着一般人群的患病风险为1:7500，尽管肠道筛查被认为是令人厌恶的且在临床上没有必要。本研究旨在调查接受预测性基因检测结果为阴性的人群对风险、疾病和检测的看法。采用定性方法——解释现象学分析（IPA），对9名接受家族性腺瘤性息肉病（FAP）基因检测结果为阴性的人进行了访谈。那些对基因检测阴性结果不放心的人认为自己和孩子仍有持续的风险。出现了两组可能解释这一现象的看法：（1）对疾病（FAP）遗传基础的看法。尽管该疾病被认为是遗传性的，但基因状态被视为是暂时的，所以今天的结果无法预测未来。该疾病也被认为是由基因以外的因素引起的，所以仅关于一个风险因素的信息并不能让人放心。（2）对基因检测的看法。基于血样的基因检测预测肠道疾病的能力缺乏可信度。这些结果表明，一些接受检测结果为阴性的个体之所以不放心，是因为他们对自身病情原因的认知以及所接受检测的性质。也许在检测前引出并在适当的时候改变人们的认知，可能会使那些接受阴性结果的人对其残余风险更放心。
