Clinical Versus Experiential Views of Genetic Disability

描述（由申请人提供）：残疾人权利对产前检测的批评声称，基因决策是在对基因和/或产前诊断患者的生活进行错误信息和贬低的背景下发生的，卫生专业人员的态度强化了这种偏见。这是一个为期三年的项目，旨在探索哪些领域的医学遗传咨询是或不是根据遗传和/或产前诊断残疾人士的实际经验提供的。整个项目将由一个由学者、专业人士、生物伦理学家和在遗传学方面工作突出的活动家组成的咨询小组提供信息。第一项研究采用深度访谈的方式，探讨遗传咨询专业人员、医学专家、遗传和/或产前诊断残疾人士以及遗传残疾人士的父母（观点线人）对遗传残疾患者的生活、遗传服务、社会和专业对残疾的态度以及“生活质量”决定因素等问题的看法。第二项研究涉及在全国范围内广泛分发一份调查问卷，从上面列出的利益相关者群体中征求关于遗传学和残疾的意见。本研究的主要具体目标是：

DESCRIPTION (provided by applicant): The disability rights critique of prenatal testing asserts that genetic decision-making occurs in a context of misinformation and devaluation regarding the lives of people with genetic and/or prenatal diagnoses and that health professional attitudes reinforce this bias. This is a three-year project designed to explore the areas in which medical genetic advising is, or is not, informed by the lived experience of persons with genetic and/or prenatally diagnosable disabilities. The project will be informed throughout by an Advisory Panel of scholars, professionals, bioethicists, and activists prominent for their work on genetics. The first study uses in-depth interviews to explore the views of genetic counseling professionals, medical specialists, persons with genetic and/or prenatally diagnosable disabilities, and parents of individuals with genetic disabilities (Perspective Informants) regarding issues of life with genetic disability, genetic services, social and professional attitudes toward disability, and determinants of "quality of life." The second study involves the broad national distribution of a questionnaire eliciting opinions on genetics and disability from the stakeholder groups listed above. The primary specific objectives of this research are to: 1) Examine health professionals' views - Investigate knowledge and beliefs about life with genetic disabilities (and related social issues of genetic decision-making) of professionals who apply human genome information to clinical decision-making with patients/clients; 2) Examine the views of persons living with genetic disabilities - Collect information from persons with genetic conditions and parents of persons with genetic disabilities about their experience of life with disability and their views on genetic decision-making in social context; 3) Determine areas of agreement, conflict, and gaps in knowledge - Compare information gathered from the respective stakeholders referenced in Goals 1 and 2 to determine areas of agreement, areas of conflict, and gaps in perspectives; 4) Develop useful recommendations for providing more informed professional training, clinical practice, and policy.