Bemelmans S A S A, Tromp K, Bunnik E M, Milne R J, Badger S, Brayne C, Schermer M H, Richard E
Department of Neurology, Radboudumc, Geert Grooteplein-Zuid 10, 6525 GA, Nijmegen, The Netherlands.
Department of Medical Ethics and Philosophy of Medicine, Erasmus MC, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.
Alzheimers Res Ther. 2016 Nov 10;8(1):46. doi: 10.1186/s13195-016-0212-z.
Current Alzheimer's disease (AD) research initiatives focus on cognitively healthy individuals with biomarkers that are associated with the development of AD. It is unclear whether biomarker results should be returned to research participants and what the psychological, behavioral and social effects of disclosure are. This systematic review therefore examines the psychological, behavioral and social effects of disclosing genetic and nongenetic AD-related biomarkers to cognitively healthy research participants.
We performed a systematic literature search in eight scientific databases. Three independent reviewers screened the identified records and selected relevant articles. Results extracted from the included articles were aggregated and presented per effect group.
Fourteen studies met the inclusion criteria and were included in the data synthesis. None of the identified studies examined the effects of disclosing nongenetic biomarkers. All studies but one concerned the disclosure of APOE genotype and were conducted in the USA. Study populations consisted largely of cognitively healthy first-degree relatives of AD patients. In this group, disclosure of an increased risk was not associated with anxiety, depression or changes in perceived risk in relation to family history. Disclosure of an increased risk did lead to an increase in specific test-related distress levels, health-related behavior changes and long-term care insurance uptake and possibly diminished memory functioning.
In cognitively healthy research participants with a first-degree relative with AD, disclosure of APOE ε4-positivity does not lead to elevated anxiety and depression levels, but does increase test-related distress and results in behavior changes concerning insurance and health. We did not find studies reporting the effects of disclosing nongenetic biomarkers and only one study included people without a family history of AD. Empirical studies on the effects of disclosing nongenetic biomarkers and of disclosure to persons without a family history of AD are urgently needed.
PROSPERO international prospective register for systematic reviews CRD42016035388 . Registered 19 February 2016.
当前阿尔茨海默病（AD）的研究计划聚焦于认知健康且具有与AD发病相关生物标志物的个体。目前尚不清楚是否应将生物标志物结果反馈给研究参与者，以及披露这些结果会产生哪些心理、行为和社会影响。因此，本系统评价旨在探究向认知健康的研究参与者披露与AD相关的遗传和非遗传生物标志物所产生的心理、行为和社会影响。
我们在八个科学数据库中进行了系统的文献检索。由三位独立评审员筛选所识别的记录并挑选相关文章。从纳入文章中提取的结果按效应组进行汇总呈现。
十四项研究符合纳入标准并被纳入数据综合分析。所有已识别的研究中均未考察披露非遗传生物标志物的影响。除一项研究外，所有研究均涉及APOE基因型的披露，且均在美国开展。研究人群主要为AD患者的认知健康一级亲属。在该群体中，披露风险增加与焦虑、抑郁或与家族病史相关的感知风险变化无关。披露风险增加确实导致了与特定检测相关的痛苦水平上升、健康相关行为改变以及长期护理保险参保率增加，并且可能导致记忆功能减退。
在有AD一级亲属的认知健康研究参与者中，披露APOE ε4阳性不会导致焦虑和抑郁水平升高，但会增加与检测相关的痛苦，并导致在保险和健康方面的行为改变。我们未找到报告披露非遗传生物标志物影响的研究，且仅有一项研究纳入了无AD家族病史的人群。迫切需要开展关于披露非遗传生物标志物影响以及向无AD家族病史者披露相关信息影响的实证研究。
国际系统评价前瞻性注册库PROSPERO，注册号CRD42016035388。于2016年2月19日注册。
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