ETHICAL GUIDANCE FOR FAMILY STUDIES IN HUMAN GENETICS

该项目将为以下疾病的症状前检测制定道德指南： 常染色体显性遗传，迟发性疾病，遗传探针是 可用的（家族性阿尔茨海默病，肌萎缩侧索硬化， 亨廷顿病，强直性肌营养不良，神经纤维瘤病，成人 多囊性肾病和色素性视网膜炎）。 我们的六人工作组提供遗传咨询方面的专业知识， 临床医学伦理学、遗传研究、法律、伦理学和沟通。 我们将收集和分析案例研究，从印第安纳州开始 大学在亨廷顿病（HD）方面的丰富经验。 HD研究和症状前测试的经验提供了一个独特的 和信息丰富的历史模型。 Kimberly A.奎德会来拜访 选择的测试中心，我们将征求补充情况， 提供感兴趣的疾病检测的主要中心。 我们将定义由以下内容所提出的全部伦理问题： 这些疾病的症状前测试，我们将探讨 工作组所代表的不同观点提出的突出问题 群体，考虑伦理原则（自治，善行，正义）; 临床实用性;行政可行性;转变研究 调查结果;宗教信仰和机构;以及政治、文化和 经济背景。 顾问：P. Michael Conneally、Robert Burt、Albert 琼森和托马斯默里将阅读我们的案例，分析和 指导方针，并在整个 项目 此外，我们将征求遗传咨询师的意见， 其他经验丰富的症状前测试，我们将邀请 患者和家属在风险审查我们的材料进展， 评估其敏感性、充分性和可行性。 我们的最终产品是一本由印第安纳州大学出版社出版的书， 包括常染色体显性遗传、晚期 发作性疾病;注释病例;以及 解决我们的指导方针没有直接涉及的道德问题。

This project will develop ethical guidance for presymptomatic testing for autosomal dominant, late onset diseases for which genetic probes are available (familial Alzheimer disease, amyotrophic lateral sclerosis, Huntington disease, myotonic dystrophy, neurofibromatosis, adult polycystic kidney disease and retinitis pigmentosa). Our six-member working group offers expertise in genetic counseling, clinical medical ethics, genetic research, law, ethics and communication. We will collect and analyze case studies, beginning with Indiana University's extensive experience with Huntington disease (HD). Experience with HD research and presymptomatic testing provides a unique and informative historical model. Co-PI Kimberly A. Quaid will visit selected testing centers, and we will solicit supplementary cases from major centers that offer testing for diseases of interest. We will define the full range of ethical problems presented by presymptomatic testing for these disorders, and we will explore the salient questions from the varied perspectives represented by the working group, considering ethical principles (autonomy, beneficence, justice); clinical practicality; administrative feasibility; changing research findings; religious beliefs and institutions; and political, cultural and economic contexts. Consultants P. Michael Conneally, Robert Burt, Albert Jonsen and Thomas Murray will read drafts of our cases, analyses and guidelines and provide regular feedback on our work throughout the project. In addition, we will solicit input from genetic counselors and others experienced with presymptomatic testing, and we will invite patients and families at risk to review our materials in progress to assess their sensitivity, adequacy and feasibility. Our final product, a book published by Indiana University Press, will include guidelines for presymptomatic testing of autosomal dominant, late onset disorders; annotated cases; and the description of a method for resolving ethical issues our guidelines do not address directly.