NEWBORN GENETIC SCREENING:FOR WHOSE BENEFIT?

新生儿基因筛查：谁的利益？

• 批准号: 6874918
• 负责人: Lainie Friedman Ross
• 金额: $ 10.29万
• 依托单位: UNIVERSITY OF CHICAGO
• 依托单位国家: 美国
• 财政年份: 2003
• 资助国家: 美国
• 起止时间: 2003-05-01 至 2006-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6874918
• 关键词: behavioral /social science research tag; books; clinical research; confidentiality; ethics; genetic disorder diagnosis; genetic screening; genetic susceptibility; human subject; interview; newborn human (0-6 weeks)

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?

描述（由申请人提供）： 核心提案：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。鉴于串联质谱技术在新生儿筛查大量遗传和代谢疾病方面的快速发展应用，这是一个关键时刻。目前，国内和国际项目之间存在很大差异。为什么一些筛查项目得到了广泛接受并降低了发病率，而其他筛查项目则不需要了解以确保未来的扩展在道德上和社会上可接受。该项目将根据社会层面基因筛查的公平性、可及性和问责制以及个人层面的同意、保密和披露的互补目标，研究导致新生儿筛查扩大和消除的因素。目标：1) 探讨新生儿基因筛查项目引发的广泛伦理和政策问题； 2）从带头引入特定筛查计划的各个州和国家的各个利益相关者的角度，了解在后勤、政治和临床上什么是有效的，什么是失败的； 3) 检查新生儿基因筛查对生命周期不同阶段出现的疾病的临床、社会心理、伦理、经济和生殖影响； 4) 研究新生儿基因筛查计划对个人、家庭和社区的不同影响； 5) 对新生儿基因筛查政策已经产生和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扩大和取消新生儿基因筛查计划的原则。研究设计：结合公开文件和对各利益相关者的采访，该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：主要成果将是一系列同行评审的文章和一本题为《新生儿基因筛查：为了谁的利益？》的长篇书籍。为了谁的利益？

项目成果

Newborn screening for cystic fibrosis: a lesson in public health disparities.

新生儿囊性纤维化筛查：公共卫生差异的教训。

• 发表时间: 2008-09
• 作者: Ross; Lainie Friedman
• 通讯作者: Lainie Friedman

Does familiarity breed acceptance? The influence of policy on physicians' attitudes toward newborn screening programs.

熟悉会带来接受吗？

• 发表时间: 2006-05
• 作者: Koopmans, Joy;Ross, Lainie Friedman
• 通讯作者: Ross, Lainie Friedman

Pediatricians' attitudes toward expanding newborn screening.

儿科医生对扩大新生儿筛查的态度。

• 发表时间: 2005-10
• 作者: Acharya, Kruti;Ackerman, Paul D;Ross, Lainie Friedman
• 通讯作者: Ross, Lainie Friedman

Attitudes of genetic counselors towards expanding newborn screening and offering predictive genetic testing to children.

遗传咨询师对扩大新生儿筛查和为儿童提供预测性基因检测的态度。

• 发表时间: 2006-11-01
• 作者: Hiraki, Susan;Ormond, Kelly E;Kim, Katherine;Ross, Lainie Friedman
• 通讯作者: Ross, Lainie Friedman