Clinical Versus Experiential Views of Genetic Disability

描述(由申请人提供)：产前检测的残疾人权利批评声称，基因决策是在对患有遗传和/或产前诊断的人的生命进行错误信息和贬值的背景下做出的，卫生专业态度加强了这一偏见。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由遗传性和/或产前可诊断残疾人士的生活经验提供信息。该项目将由一个由学者、专业人士、生物伦理学家和以遗传学工作著称的活动家组成的顾问小组全程提供信息。第一项研究采用深入访谈的方式，探讨遗传咨询专业人员、医学专家、遗传性和/或产前可诊断的残障人士以及遗传性残障人士的父母(视角信息者)对遗传性残障的生活问题、遗传服务、对残障的社会和专业态度以及“生活质量”的决定因素的看法。第二项研究涉及在全国范围内广泛分发一份调查问卷，征求上述利益攸关方群体对遗传和残疾的意见。这项研究的主要具体目标是： 1)审查卫生专业人员的观点--调查将人类基因组信息应用于与患者/客户进行临床决策的专业人员对遗传性残疾生命(以及遗传决策的相关社会问题)的知识和信念； 2)审查遗传性残疾人的意见--从遗传病患者和遗传性残疾人的父母那里收集关于他们残疾生活经历的信息，以及他们对社会背景下的遗传决策的看法； 3)确定知识方面的一致、冲突和差距--比较从目标1和2中提到的各个利益攸关方收集的信息，以确定一致的领域、冲突的领域和观点上的差距； 4)制定有用的建议，以提供更有见地的专业培训、临床实践和政策。

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.