Newborn screening

Abstract

This discussion presents the topic of newborn screening from an historical perspective starting with the original Guthrie test for Phenylketonuria and chronicles its course of inception to final acceptance. Using this as a springboard we discuss scientific and technical advancements resulting in enhanced screening used today. We update the reader on which tests are employed in which states in the United States. We also discuss criteria for development of screening tests and touch upon several ethical issues such as risks, benefits, costs follow-up and informed consent. Finally we discuss future ethical issues with emphasis on genomics.