The expansion of newborn screening in Israel: Ethical and social dimensions

This dissertation is a bioethical study of the decision making involved in the recent expansion of newborn screening for genetic and metabolic disorders with the introduction of tandem mass spectrometry technology in Israel. It explores the ethical, social, and programmatic challenges posed by introducing new technology into a developing public health program. Newborn screening programs test infants in the first 24--48 hours of life to identify disorders while they are presymptomatic and preventive treatment is available. The number of tests performed and disorders screened for varies widely between programs, as do the methodologies used in testing. This study's first aim is to locate the development of an expanded Israeli program in a broader social and international context by conducting a policy analysis of the evolution of newborn screening programs internationally. The study's second goal is to analyze ethical, social, and policy issues in the formation and implementation of the expanded Israeli program based on in-depth interviews of program initiators and officials and practicing physicians in the field of newborn screening in Israel and internationally. Using social scientific theories regarding the social construction of medical knowledge, the concepts of medicalization and the technological imperative, this study examines the routinization of tandem mass spectrometry, and the influence of cultural quest for a "perfect baby" in Israeli society on the public perception of newborn screening and its expansion. I conclude that three issues have proved problematic in the development of the Israeli expanded newborn screening program: the inchoate and contested nature of the policies that have emerged regarding basic programmatic aspects as practiced by different stakeholders; the insufficient evidence-base used to justify various programmatic aspects; the minimal involvement of the community in the process of decision making that shaped the program's implementation. Finally, I demonstrate the significant influence of American newborn screening experience on various stages and aspects of the developing newborn screening program in Israel.