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

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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.