Newborn Screening: Getting to the Policy Behind the Process

Newborn screening is cited as being one of the public health successes of the 20th century. Since the early 1960s, when Robert Guthrie devised a screening test for phenylketonuria (PKU) using a newborn blood spot dried onto a filter paper card, more than 150 million infants have been screened for a number of genetic and congenital disorders. Screening is usually performed by analysis of a drop of blood, most often obtained from a heelstick, or in the case of congenital hearing loss, via audiometric analysis.

As the human genome project evolves and genetic medicine expands, it is difficult to predict the impact this will have on newborn screening. This session will review the components of newborn screening and some of its history. We will also examine what role legislation and policy reports have had on the development of the program.