Understanding why negative genetic test results sometimes fail to reassure
Understanding why negative genetic test results sometimes fail to reassure
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DOI：
10.1002/ajmg.a.20200
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发表时间：
2003-06-15
影响因子：
2
通讯作者：
Marteau, TM
中科院分区：
文献类型：
--
作者：
Michie, S;Smith, JA;Marteau, TM
在预测性基因检测结果为阴性的人群中，有一部分人希望将来进行肠道筛查。尽管结果为阴性，意味着一般人群的风险为1:7 500，尽管肠道筛查是令人厌恶的，在临床上是不必要的。这项研究旨在调查那些在预测性基因检测后得到阴性结果的人对风险、疾病和测试的看法。对9例家族性腺瘤性息肉病（FAP）基因检测结果为阴性的患者进行访谈，采用定性方法，解释现象学分析（IPA）进行分析。那些因基因检测结果为阴性而感到不安的人认为，自己和孩子都面临着持续的风险。出现了两种可能解释这一现象的认知：(1)对疾病遗传基础的认知（FAP）。虽然这种情况被认为是遗传的，但遗传状态被认为是短暂的，所以今天的结果不能预测未来。这种情况也被认为是由基因以外的因素引起的，所以只有一个风险因素的信息不能让人放心。(2)对基因检测的认知。人们对基于血液样本的基因测试预测肠道疾病的能力缺乏信心。这些结果表明，一些接受阴性检测结果的人不放心，因为他们陈述了自己病情的原因和他们所接受的检测的性质。也许，在测试前引出并适当地改变人们的陈述，可以使那些得到阴性结果的人对自己的剩余风险更放心。(C) 2003 Wiley-Liss, Inc。
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 1:7,500 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. (C) 2003 Wiley-Liss, Inc.