Newborn screening: The limits of state authority and the ethical, legal and practical method for conducting population based research on those diseases for which too little is known to mandate screening

Tandem mass spectrometry and similar technologies make it possible to screen newborns for potentially hundreds of disorders. Some of these disorders carry significant risks of morbidity and mortality but little is known about their natural history and, in many cases, there is no evidence of any treatment at all, or any effective treatment. However, without screening, it will be difficult to obtain the information necessary for prevention or treatment. In 1998, the Massachusetts Department of Public Health (MDPH) confronted the issues of the limitations on state authority to mandate screening, the rights of parents and their children, and the need for research to provide greater information on these disorders. MDPH added one additional disorder for a total of 10 mandated screens and offered consent based testing for cystic fibrosis and 19 metabolic disorders as part of a state –wide newborn screening research protocol, and is currently reviewing these optional screens to determine whether inclusion the mandated panel is warranted. With the 2005 recommendation of the American College of Medical Genetics to screen for 29 disorders, states are expanding mandated newborn screening panels without evidenced-based research to support their decisions. Given this recommendation, and the future increase in the number of disorders which can be detected, states must make legal, ethical and practical decisions concerning their newborn screening programs. We offer the Massachusetts process and framework as a means to discuss these issues and as one model for other states expanding newborn screen programs to consider.