NEWBORN GENETIC SCREENING:FOR WHOSE BENEFIT?

说明(由申请人提供)：核心建议：该项目的概念框架是提供新生儿基因筛查所引起的伦理和政策问题的规范性说明。鉴于串联质谱学在筛查新生儿大量遗传和代谢疾病方面的应用迅速发展，这是一个关键时刻。目前，国内和国际上的项目差异很大。为什么一些筛查计划得到了很好的接受并降低了发病率，而另一些则不需要被理解，以确保未来的扩大在道德上和社会上都是可以接受的。该项目将根据社会一级基因筛查的公平、可获得性和问责制以及个人一级的同意、保密和披露等相辅相成的目标，审查导致新生儿筛查扩大和消除的因素。目的：1)探索新生儿基因筛查项目提出的广泛的伦理和政策问题；2)从率先引入特定筛查项目的各州和国家的不同利益相关者的角度，了解哪些在逻辑上、政治上和临床上是成功的，哪些是失败的；3)检查新生儿基因筛查对生命周期不同阶段的疾病的临床、心理社会、伦理、经济和生殖影响；以及4)检查新生儿基因筛查项目对个人、家庭和社区的不同影响；5)对新生儿基因筛查政策已经并可能产生的争议进行规范分析；6)制定指导美国政策制定者关于新生儿基因筛查计划的扩展和取消的原则。研究设计：利用可公开获得的文件和与不同利益相关者的采访相结合，研究的目的是对新生儿基因筛查提出的伦理和政策问题提供规范性描述。该项目将提供案例研究分析，从中制定指导政策制定者的原则。结果：主要结果将是一系列同行评议的文章和一本名为《新生儿基因筛查：对谁有利》的全书。为了谁的利益？

DESCRIPTION (provided by applicant): CORE PROPOSAL: The conceptual framework of this project is to provide a normative description of the ethical and policy issues raised by newborn genetic screening. This is a critical time given the rapidly evolving application of tandem mass spectrometry to screen newborns for a large number of inherited and metabolic conditions. Currently, there is wide variation between programs nationally and internationally. Why some screening programs have met with great acceptance and decreased morbidity whereas others have not needs to be understood to ensure that future expansions are ethically, and socially acceptable. The project will examine the factors that have led to the expansion and elimination of newborn screening in light of the complementary goals of equity, accessibility and accountability in genetic screening at the societal level and of consent, confidentiality, and disclosure at the personal level. OBJECTIVES: 1) to explore the wide array of ethical and policy issues raised by newborn genetic screening programs; 2) to learn what has worked and what has failed both logistically, politically, and clinically from the perspectives of the various stakeholders in various states and countries that have taken the lead in introducing particular screening programs; 3) to examine the clinical, psychosocial, ethical, economical, and reproductive implications of newborn genetic screening for conditions that present at various stages in the lifecycle; and 4) to examine the different implications that newborn genetic screening programs have for individuals, families, and communities; 5) to offer a normative analysis of the controversies that newborn genetic screening policies have and can generate; and 6) to develop principles to guide U.S. policy makers regarding newborn genetic screening program expansions and eliminations. RESEARCH DESIGN: Using a combination of publicly available documents and interviews with various stakeholders, the aim of the research is to offer a normative description of the ethical and policy issues raised by newborn genetic screening. The project will offer case study analyses from which principles to guide policy makers will be developed. OUTCOMES: The major outcomes will be a series of peer-reviewed articles and a full-length book entitled Newborn Genetic Screening: In whose Interest? For whose Benefit?