Expansion of Newborn Screening in Israel: Opportunities and Challenges in the Exchange of Knowledge regarding Genetic and Public Health Services

Newborn screening (NBS) for genetic and metabolic disorders has been practiced in the U.S. since the early 1960s. In 2005 the American College of Medical Genetics (ACMG) recommended to mandate screening for 29 core conditions and to report abnormal results for 25 secondary conditions in all U.S. states. In Israel, screening for an expanded panel of 13 conditions is planned to begin in 2008. The expanded program will utilize Tandem Mass Spectrometry (MS/MS) which allows for detection of multiple conditions using a single test in shortened timeframe and lower cost than traditional screening methods.

This presentation discusses a recent study examining the current process of expansion of NBS in Israel. In particular, it is focused on the ethical, legal, and social implications of the integration of genetic screening in public health services. One of the research questions is the opportunities and challenges arising from the increasing exchange of knowledge regarding genetic and public health services across geographical, political, and cultural borders. It draws on theories of the social construction of medical knowledge, routinization of an advanced medical device, and evidence based research paradigm for the use of a new technology. Qualitative multi method approach, including in depth interviews with program officials in Israel, U.S., and Europe, participant observation at the Israel laboratory, and comprehensive analysis of international policy guidelines is used to address the research questions. The findings of this study may inform policy making regarding the use of genetic testing for the purposes of health promotion and disease prevention.