Newborn screening (NBS) has been an important part of preventable health care since the 1960’s. NBS is a simple blood test taken from the heels of babies shortly after birth to identify certain rare disorders that can have serious health risks. Because many of these disorders have few or no symptoms at birth, NBS lets us diagnose and treat affected babies as early as possible, with the hope of letting them live as long and normal of a life as possible.
New screening technologies have led to a remarkable expansion of the disorders that we can detect early in babies. It is important to study how well newborn screening works for every new disorder. This includes studying the accuracy of the test and seeing how newborn screening impacts the outcomes of affected babies.
From 2012-2017, our team conducted a pilot newborn screen for five rare disorders. After the study finished, we decided to use our experience and study infrastructure to create ScreenPlus, the largest, consented, multi-disorder pilot newborn screening program in the United States.
ScreenPlus is a research program that will screen babies for 14 rare disorders in addition to the disorders that are already on New York’s routine newborn screen. Parent(s) who recently gave birth at eight pilot hospitals will have the option to enroll their newborn babies in ScreenPlus for the additional NBS tests, at no cost, and using no extra blood. ScreenPlus uses a novel, multi-tiered screening platform to improve accuracy. Our ScreenPlus physician team will follow screen positive children over time, referring for treatment or clinical trial when indicated. We are also studying important ethical issues by inviting ScreenPlus parent(s) to participate in a series of surveys and interviews focused on improving newborn screening in an ethically sensitive manner.