NEWBORN GENETIC SCREENING:FOR WHOSE BENEFIT?

描述（由申请人提供）：CORE提案：该项目的概念框架是对新生儿基因筛查引起的伦理和政策问题提供规范性描述。考虑到串联质谱法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有很大的差异。为什么一些筛查项目得到了广泛的接受，发病率降低了，而另一些则没有，需要了解以确保未来的扩展在道德上和社会上是可以接受的。该项目将根据遗传筛查在社会层面的公平、可及性和问责制以及在个人层面的同意、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引发的广泛的伦理和政策问题；2)从各个州和国家的利益相关者的角度，了解哪些在后勤、政治和临床方面成功了，哪些失败了，这些利益相关者已经率先引入了特定的筛查项目；3)检查新生儿基因筛查在生命周期不同阶段出现的疾病的临床、社会心理、伦理、经济和生殖意义；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已经产生和可能产生的争议进行规范性分析；6)制定指导美国决策者扩大和取消新生儿基因筛查项目的原则。研究设计：结合公开文件和对不同利益相关者的访谈，研究的目的是对新生儿基因筛查引起的伦理和政策问题提供规范的描述。该项目将提供案例研究分析，从中制定指导决策者的原则。结果：主要结果将是一系列同行评议的文章和一本题为《新生儿遗传筛查：对谁有利？》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?