What’s Next in Newborn Screening? Next-Generation Sequencing (202)

Abstract Text: Newborn screening was first introduced in the early 1960s with dried blood spot testing for phenylketonuria. Using filter paper and other testing methodologies, only a handful of conditions were added to newborn screening over the next four decades. With the introduction of tandem mass spectrometry in the late 1990s to 2000s, non-biochemical assessments such as hearing and critical congenital heart defect screening, and more recently, DNA testing, newborn screening has grown exponentially in the past two decades. As of January 2023, the Recommended Uniform Newborn Screening Panel recommends screening for 63 core and secondary conditions and several additional conditions are nominated to the committee for panel inclusion annually. The growth of newborn screening has not come without controversy, however, and this expansion has stretched the Wilson and Junger foundational principles of screening. The availability and some might say, affordability of high-throughput and multi-parallel sequencing alone and in combination with the growth of rare disease treatments including gene therapy has been advocated for as well as avoided in newborn screening. This presentation will provide a brief overview of the history and current state of newborn screening and methodologies but more importantly, deeply explore clinical, ethical, legal, psychological, and economic considerations surrounding the introduction of next-generation sequencing to newborn screening.

Needs Assessment and Presentation Description: Neonatal and pediatric providers must remain abreast of newborn screening. This presentation provides a brief update regarding the current state of newborn screening but more importantly, examines what may become the next "standard of care", next-generation sequencing. It weighs the benefits and limitations and explores the clinical, ethical, legal, psychological, and economic considerations surrounding the application and introduction of next-generation sequencing to newborn screening.