NEWBORN GENETIC SCREENING:FOR WHOSE BENEFIT?

描述（由申请人提供）：核心建议：该项目的概念框架是提供新生儿遗传筛查引起的伦理和政策问题的规范性描述。这是一个关键的时刻，因为串联质谱法的应用迅速发展，可以筛查新生儿的大量遗传和代谢疾病。目前，国内和国际上的方案之间存在很大差异。为什么一些筛查项目得到了广泛的接受并降低了发病率，而另一些项目则没有得到理解，以确保未来的扩展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遗传筛查的公平、可及性和问责制以及个人一级同意、保密和披露的互补目标，审查导致扩大和取消新生儿筛查的因素。目的：1）探讨新生儿遗传筛查项目提出的广泛的伦理和政策问题; 2）从各州和国家的各种利益相关者的角度，了解在后勤、政治和临床上哪些是有效的，哪些是失败的，这些利益相关者率先引入了特定的筛查项目; 3）检查新生儿遗传筛查在生命周期各个阶段的临床，心理，伦理，经济和生殖影响; 4）研究新生儿遗传筛查项目对个人、家庭和社区的不同影响; 5）对新生儿遗传筛查政策所产生和可能产生的争议进行规范分析; 6）制定原则，指导美国政策制定者关于新生儿基因筛查计划的扩大和取消。研究设计：使用公开可用的文件和与各利益相关者的访谈相结合，研究的目的是提供新生儿遗传筛查所提出的伦理和政策问题的规范性描述。该项目将提供案例研究分析，并据此制定指导决策者的原则。成果：主要成果将是一系列同行评议的文章和一本名为《新生儿遗传筛查：谁的利益？》的完整书籍。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?