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

这项博士论文改进基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疾病测试。国家统计局从20世纪60年代初开始在美国实行，从70年代开始在以色列实行。近年来，不同州和国家的公共卫生部门所筛查的疾病数量和类型有很大差异。2005年，美国医学遗传学学院（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，以色列建立了一个类似的扩大的国家统计局项目。扩大后的面板将于2007年底开始运作。NBS以色列项目的长期目标是筛查ACMG推荐的所有29种核心疾病。美国顾问、以色列政府官员和专业医生联手创建并实施了这个新项目。本论文项目探讨了NBS以色列扩张过程中的伦理、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，研究分析了常规化的过程中一个新的和非常强大的技术，串联质谱（MS/MS）。关于实验室工作人员如何将MS/MS的使用整合到他们的日常工作中，为什么他们设置先进的设备来允许检测某些条件而不是其他条件，以及他们如何确定和报告未知或不确定临床意义条件的“阳性”结果，这些问题将被解决。此外，国际影响，特别是美国，对NBS以色列计划形成的影响进行了调查。这项研究旨在告诉学术界，在不同的文化中，科学技术中的伦理问题是如何被感知和采取不同的行动的。对不断扩大的国家统计局项目的审查，可以通过识别在弱势群体中使用新兴技术的机遇和挑战，为政策制定提供潜在的信息。

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.