REVEAL II

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。基因和其他生物标志物正在迅速得到鉴定，它们可以提供症状前估计或个人最终发展为复杂迟发性疾病的风险。最近发现的许多遗传标记不是决定性基因，而是与其他尚未确定的基因相互作用的易感基因，以及年龄，性别，种族，家族史和环境暴露等因素。公众对获得风险信息有着广泛的兴趣，并且广泛的共识是，很快就会开发出治疗方法来减缓或预防退行性疾病的发生。由于对遗传易感性测试的营销和利用几乎没有限制，其使用可能很快会增加。然而，很少或没有数据可以用来了解谁（例如，年龄、性别、种族）将在获得遗传易感性风险信息后寻求这些信息;以及他们为什么这样做（例如，为了获得治疗、减轻焦虑、做好经济准备）。更重要的是，几乎没有关于提供敏感性风险信息的潜在益处或负面后果的信息，这些信息可以指导合理的临床决策或公共政策。 阿尔茨海默病（Alzheimer's disease，AD）是一种常见的、影响认知和行为的进行性疾病，其中常见的易感性多态性（Common susceptibility polymorphism，APOE）已被确定。虽然有几个共识声明反对临床使用APOE基因分型，但每个声明都要求进行研究，以评估易感性基因分型的影响，并探索风险问题的沟通过程。REVEAL研究于1999年获得资助，目的是招募AD患者的成年子女，目的如下：-确定谁会选择获得APOE基因分型-为APOE基因分型的披露设计教育和咨询方案-研究披露信息的影响

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Genes and other biological markers are rapidly being identified that can provide presymptomatic estimates or risk to individuals for the eventual development of complex late-onset diseases. Many of the recently discovered genetic markers are not deterministic genes, but rather susceptibility genes that interact with other, as yet unidentified genes, and with factors such as age, gender, race, family history and environmental exposures. There is widespread public interest in obtaining risk information, and a broad consensus that treatments will soon be developed to slow or prevent the onset of degenerative disease. With few restrictions on the marketing and utilization of genetic susceptibility tests, their use may soon increase. Nevertheless, there are little or no data available to understand who( e.g., age, gender, race) will seek genetic susceptibility risk information once it is available; and why they would do so (e.g. to obtain treatment , to alleviate anxiety, to prepare financially). Even more importantly, there is little information on the potential benefits or negative consequences of providing susceptibility risk information that could guide rational clinical decisions or public policy. Alzheimer's disease (AD) is a common, progressive disease affecting cognition and behavior, in which a common susceptibility polymorphism (APOE) has been identified. While several consensus statements have advised against the clinical use of APOE genotying, each of these called for research to evaluate the impact of susceptibility genotyping and to explore the process of communicating about risk issues. The REVEAL study was funded in 1999 to enroll adult children of patients with AD with the following objectives: - to determine who would choose to obtain APOE genotyping - to devise an education and counseling protocol for the disclosures of APOE genotying - to study the impact of disclosing the information