Broadstock M, Michie S, Marteau T
Department of Oncology, Addenbrooke's Hospital, University of Cambridge, UK.
Eur J Hum Genet. 2000 Oct;8(10):731-8. doi: 10.1038/sj.ejhg.5200532.
The aim of this systematic literature review is to describe the psychological consequences of predictive genetic testing. Five databases were searched for studies using standardised outcome measures and statistical comparison of groups. Studies were selected and coded by two independent researchers. From 899 abstracts, 15 papers, describing 11 data sets, met the selection criteria for the review. The studies were of predictive genetic testing for Huntington's disease, hereditary breast and ovarian cancer, familial adenomatous polyposis and spinocerebellar ataxia. One involved children; the rest were of adults. None of the 15 papers reported increased distress (general and situational distress, anxiety and depression) in carriers or non-carriers at any point during the 12 months after testing. Both carriers and non-carriers showed decreased distress after testing; this was greater and more rapid amongst non-carriers. Test result (ie being a carrier or non-carrier) was rarely predictive of distress more than one month after testing (predictive in two of 14 analyses). Pre-test emotional state was predictive of subsequent distress in 14 of 27 analyses. There is a lack of informative studies in this field. The studies reviewed suggest that those undergoing predictive genetic testing do not experience adverse psychological consequences. However, the studies are of self-selected populations who have agreed to participate in psychological studies and have been followed up for no more than three years. Most research has been of testing for Huntington's Disease and included follow-up of no more than one year. The results suggest that testing protocols should include a pre-test assessment of emotional state so that post-test counselling can be targeted at those more distressed before testing. None of the studies experimentally manipulated the amount or type of counselling provided. The relationship between counselling and emotional outcome is therefore unclear and awaits empirical study.
本系统文献综述旨在描述预测性基因检测的心理影响。通过五个数据库搜索使用标准化结局指标并进行组间统计比较的研究。由两名独立研究人员筛选并编码研究。从899篇摘要中，15篇论文（描述了11个数据集）符合综述的入选标准。这些研究涉及亨廷顿舞蹈症、遗传性乳腺癌和卵巢癌、家族性腺瘤性息肉病以及脊髓小脑共济失调的预测性基因检测。其中一项涉及儿童；其余研究对象为成年人。这15篇论文均未报告在检测后的12个月内，携带者或非携带者出现任何程度的痛苦增加（一般痛苦和情境性痛苦、焦虑和抑郁）。携带者和非携带者在检测后痛苦均有所减轻；非携带者的减轻程度更大且更迅速。检测结果（即携带者或非携带者）在检测后一个月以上很少能预测痛苦程度（14项分析中有2项具有预测性）。在27项分析中有14项显示，检测前的情绪状态可预测随后的痛苦程度。该领域缺乏信息丰富的研究。综述的研究表明，接受预测性基因检测的人不会经历不良心理影响。然而，这些研究的对象是自愿参与心理研究的自我选择人群，且随访时间不超过三年。大多数研究针对亨廷顿舞蹈症检测，随访时间不超过一年。结果表明，检测方案应包括对情绪状态的检测前评估，以便检测后咨询能够针对检测前痛苦程度更高的人群。没有一项研究通过实验操纵所提供咨询的数量或类型。因此，咨询与情绪结果之间的关系尚不清楚，有待实证研究。
