ETHICAL GUIDANCE FOR FAMILY STUDIES IN HUMAN GENETICS

该项目将为症状前检测制定伦理指导 常染色体显性、晚发性疾病，其遗传探针是 可用(家族性阿尔茨海默病，肌萎缩侧索硬化症， 亨廷顿病，强直性肌营养不良，神经纤维瘤病，成人 多囊肾病和视网膜色素变性)。 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、基因研究、法律、伦理和交流。 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独特的 和信息丰富的历史模型。共同派·金伯利·A·奎德将访问 选定的测试中心，我们将向以下人员征集补充案例 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提出的所有道德问题 这些疾病的症状前测试，我们将探索 从工作代表的不同角度提出的突出问题 团体，考虑伦理原则(自治、慈善、正义)； 临床实用性；管理可行性；变革性研究 调查结果；宗教信仰和机构；以及政治、文化和 经济背景。咨询公司P.Michael Conneally，Robert Burt，Albert Jonsen和Thomas Murray将阅读我们的案例、分析和 指引，并定期就我们的工作提供意见。 项目。此外，我们还将征求遗传咨询师和 其他有症状前测试经验的人，我们将邀请 有风险的患者和家属审查我们正在进行的材料 评估其敏感性、充分性和可行性。 我们的最终产品，印第安纳大学出版社出版的一本书，将 包括常染色体显性、晚期显性遗传症状前检测指南 发病障碍；注解病例；以及一种方法的描述 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.