GENETIC KNOWLEDGE AND ATTITUDES IN ALZHEIMER'S DISEASE

这是阿尔茨海默病的遗传知识和态度的重新提交(1 R01 HG0183)，从阿尔茨海默病(AD)高危群体的关键角度阐述了阿尔茨海默病(AD)遗传学的伦理、法律和社会影响：目前AD家族中未受影响的亲属。这些申请者来自麻省总医院/哈佛医学院和阿拉巴马大学，自1990年以来一直在合作，作为NIMH遗传学倡议的一部分，以识别阿尔茨海默病家庭，进行基因连锁研究。收集了近350个这样的家庭，主要是受影响的兄弟姐妹对及其300多个未受影响的兄弟姐妹。正在对未受影响的受试者进行定期跟踪，以监测他们的发病情况并评估阿尔茨海默病的风险因素的作用，研究家庭中约有200名未受影响的兄弟姐妹。在目前的提案中，这两个中心将研究这些AD家庭中未受影响的个人及其初级保健医生与基因研究和基因测试有关的知识、态度和行为，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遗传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发病率、破坏性症状和巨大的社会成本，最近AD遗传学的一系列发展受到了大众媒体和广告商的广泛关注，这些广告商都在兜售假定的基因测试。那些家族病史使他们患AD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。本提案将为普通人和医生开发和测试的遗传教育材料努力满足他们目前对准确信息的需求，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.