Research for newborn screening: developing a national framework

Abstract

Newborn metabolic screening represents the largest application of genetic testing in medicine. As new technologies are developed, the number of conditions amenable to newborn screening (NBS) will continue to expand. Despite the scope of these programs, the evidence base for a number of NBS applications remains relatively weak. This article briefly reviews the evidence base for several conditions. The article then develops a proposal for a structured sequence of research protocols to evaluate potential applications for NBS before their formal implementation in public health programs. Such a framework for research will require collaboration between states and the federal government, a collaboration that is emerging through recent federal legislation and funding.