NY ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

Newborn Screening (NBS) is celebrating its 60th anniversary as one of the most important and life-saving public health programs in the United States. NBS has enabled countless babies with rare disorders to lead productive lives because of early detection and early treatment. Importantly, current NBS panels reflect only a fraction of the potentially screenable disorders, i.e. disorders that are serious, treatable, and detectable in dried blood spots (DBS). There are many other disorders where affected children would benefit from early detection. Thus, there is an ever pressing need to expand our current NBS practices. Pilot NBS programs are necessary to gather objective data about the feasibility, accuracy, and outcome of screening for new disorders. ScreenPlus is a multi-disorder, multi-tiered, flexible pilot NBS program that screens consented infants for a fluid panel of rare disorders in addition to those on New York’s routine panel. ScreenPlus includes long term follow up of identified infants to enable analysis of critical outcome data, with the goal of describing pre-symptomatic disease progression, identifying optimal times to initiate therapy, and determining whether there is a benefit to early detection. Parental engagement is at the core of ScreenPlus and includes parental education and informed consent, as well as a series of surveys, qualitative interviews and focus groups to elicit parental perspectives on the complexities of NBS expansion. The creation of a complex cost share infrastructure with funding from NIH, industry sponsors, and patient advocacy groups has enabled the program to effectively and efficiently function with transparency and mutual benefit. Our current funding cycle showed exceptional progress in all aspects of the study. We validated screening assays, contracted with sponsors, and initiated live screening. We identified affected infants who are now being monitored and treated as needed. We created and executed parental surveys, which are providing fascinating and important insights into the future of NBS expansion. In this Competitive Renewal application, we hope to build upon the remarkable progress that we have made thus far to provide critical, detailed data to help guide objective, ethically sensitive decision-making about NBS expansion.