REVEAL II

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。基因和其他生物标记物正在迅速被识别出来，可以提供症状前的估计或个体最终发展为复杂的晚发性疾病的风险。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，以及与年龄、性别、种族、家族史和环境暴露等因素相互作用的易感基因。公众对获取风险信息有广泛的兴趣，而且广泛的共识是，很快就会开发出减缓或预防退行性疾病发病的治疗方法。由于对遗传易感试验的销售和利用几乎没有限制，它们的使用可能很快就会增加。然而，很少或根本没有可用的数据来了解谁（例如，年龄、性别、种族）会在获得遗传易感性风险信息后寻求信息；以及为什么他们会这样做（例如，为了获得治疗、减轻焦虑、为经济做好准备）。更重要的是，关于提供可指导合理临床决策或公共政策的易感性风险信息的潜在益处或负面后果的信息很少。阿尔茨海默病（AD）是一种影响认知和行为的常见进行性疾病，其常见易感多态性（APOE）已被确定。虽然有几个共识声明反对APOE基因分型的临床应用，但每个声明都呼吁研究评估易感性基因分型的影响，并探讨风险问题的沟通过程。REVEAL研究于1999年资助，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-设计APOE基因分型披露的教育和咨询方案-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