GENETIC KNOWLEDGE AND ATTITUDES IN ALZHEIMER'S DISEASE

这是《阿尔茨海默病的遗传知识和态度》（1 R01 HG0183）的再提交，该论文从阿尔茨海默病高风险群体（阿尔茨海默病家庭中目前未受影响的亲属）的关键角度探讨了阿尔茨海默病（AD）遗传学的伦理、法律和社会影响。麻省总医院/哈佛医学院和阿拉巴马大学的申请者自1990年以来一直在一起工作，作为NIMH遗传学倡议的一部分，以确定患有阿尔茨海默病的家庭，进行遗传联系研究。已经收集了近350个这样的家庭，主要是受影响的兄弟姐妹和300多个未受影响的兄弟姐妹。对未受影响的受试者的定期随访正在进行中，以监测他们的疾病发作并评估AD风险因素的作用，并且在研究家庭中还有大约200名未受影响的兄弟姐妹。在目前的提案中，这两个中心将研究与基因研究和基因测试相关的知识、态度和行为，这些未受影响的阿尔茨海默氏症家庭及其初级保健医生，并将开发和试点旨在满足他们对遗传信息需求的教育材料。关于伦理、法律和社会影响的信息与关于继承模式和风险概率的信息一样重要。我们将采用广泛的方法，包括定性和定量方法，以捕捉这个新领域的复杂性、不确定性和主观性。鉴于阿尔茨海默病的日益流行，破坏性的症状和巨大的社会成本，最近阿尔茨海默病遗传学的发展受到了大众媒体和广告商的广泛关注。那些家族史使他们患阿尔茨海默病的风险增加的人特别容易受到错误信息的影响。他们的初级保健医生也没有准备好解决这些问题。在本提案中为非专业人员和医生编写和测试的遗传教育材料力求满足他们目前对准确信息的需要，使他们为未来的挑战做好准备，并为其他复杂疾病的遗传教育提供模式。

This is a resubmission of Genetic Knowledge and Attitudes in Alzheimer's Disease (1 R01 HG0183), which addresses the ethical, legal, and social implications Alzheimer's disease (AD) genetics from the critical perspective of a group at high risk for the disease: currently unaffected relatives in families with AD. The applicants--at Mass General Hospital/Harvard Medical School and the University of Alabama--have been working together since 1990 as part of the NIMH Genetics Initiative to identify families with Alzheimer's disease for a genetic linkage study. Nearly 350 such families, predominantly affected sibling pairs and over 300 of their unaffected siblings, have been collected. Regular follow- up of unaffected subjects is in process in order to monitor them for disease onset and assess the role of risk factors for AD, and there are approximately 200 additional unaffected siblings in study families. In the present proposal, the two centers will study knowledge, attitudes, and behavior related to genetic studies and genetic testing in the unaffected individuals in these AD families and their primary care physicians, and will develop and pilot educational materials designed to address their needs for genetic information. Information about the ethical, legal, and social implications is just as critical as that about inheritance patterns and risk probabilities. We will employ a broad approach including qualitative as well as quantitative methods in order to capture the complexity, uncertainty, and subjectivity in this new realm. Given the growing prevalence, devastating symptoms, and prodigious social cost of AD, the recent flurry of developments in AD genetics has received extensive attention both from the popular press and from advertisers touting putative genetic tests. Those whose family history puts them at increased risk for AD are especially vulnerable to misinformation. Their primary care physicians are also ill-prepared to address these issues. The genetic educational materials for laypeople and physicians to be developed and tested in the present proposal strive to meet their current needs for accurate information, to prepare them for future challenges, and to supply models for genetic education in other complex diseases.