Doctoral Dissertation Research:Expansion of Newborn Screening Programs in Israel and the U.S.: Ethical, Legal, Social, Cultural, and Policy Implications

这篇博士论文改进助学金由科学与社会计划资助，支持对婴儿使用诊断技术的比较研究。新生儿筛查(NBS)是一个术语，用于描述对所有新生儿进行的不同类型的遗传和代谢障碍测试。NBS自20世纪60年代初以来一直在美国实施，自70年代以来一直在以色列实施。近年来，不同州和国家的公共卫生部门筛查的疾病数量和类型有很大差异。2005年，美国医学遗传学学会(ACMG)建议扩大标准化筛查小组，包括美国所有州的29种核心疾病。2006年7月，在以色列建立了一个类似扩大的国家统计局方案。扩大后的专家组将于2007年底开始运作。国家统计局以色列项目的长期目标是筛选ACMG推荐的所有29种核心疾病。美国顾问、以色列公职人员和专科医生联手创建和实施了这一新计划。这篇论文项目探索了以色列国家统计局扩张的伦理、社会、文化和政策过程。采用定性研究方法，包括政策分析、深度访谈和参与者观察，本研究分析了一种新的、功能极其强大的技术-串联质谱仪(MS/MS)的常规化过程。关于实验室工作人员如何将MS/MS的使用整合到他们的工作程序中，为什么他们将先进的设备设置为允许检测某些情况而不是其他情况，以及他们如何确定和报告未知或不确定临床意义的情况的“阳性”结果，这些问题将被解决。此外，还探讨了国际影响，特别是美国的影响，对国家统计局以色列计划的形成的影响。这项研究将使学术界了解科学技术中的伦理问题在不同的文化中是如何被不同地看待和处理的。对不断扩大的国家统计局计划的审查可能会通过确定在弱势群体中使用新兴技术方面的机会和挑战，为政策制定提供潜在信息。

This Doctoral Dissertation Improvement Grant, funded by the Science & Society program, supports a comparative study of the use of diagnostic technologies on infants. Newborn screening (NBS) is a term used to describe different types of tests for genetic and metabolic disorders that are being performed on all newborns. NBS has been practiced in the U.S. since the early 1960s and in Israel since the 1970s. In recent years, there has been significant variation in the number and types of conditions screened for by public health departments in different states and countries. In 2005, the American College of Medical Genetics (ACMG) recommended an expanded standardized screening panel including 29 core conditions in all U.S. states. In July 2006, a similarly expanded NBS program was established in Israel. The expanded panel will start operating by the end of 2007. The long term goal of the NBS Israel program is to screen for all 29 core conditions recommended by ACMG. American consultants, Israeli public officials, and specialist physicians joined forces in creating and implementing the new program. This dissertation project explores ethical, social, cultural, and policy processes in the expansion of NBS Israel. Using qualitative research methods including policy analysis, in-depth interviews and participant observation, the study analyzes processes of routinization in a new and extremely powerful technology, Tandem Mass Spectrometry (MS/MS). Questions about how laboratory staff integrates the use of MS/MS in their work routines, why they set the advanced device to allow for detection of certain conditions but not others, and how they determine and report 'positive' results for conditions of unknown or uncertain clinical significance, will be addressed. In addition, the impact of international, particularly US, influences on the formation of the NBS Israel program are investigated. This research stands to inform scholarship on how ethical issues in science and technology are perceived and acted upon differently in different cultures. Examination of an expanding NBS program can potentially inform policy-making by identifying opportunities and challenges in the use of emerging technologies with vulnerable populations.