Newborn screening: After the thrill is gone

Abstract

Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry has raised the stakes for specialists in metabolic medicine. New disorders and a broader clinical spectrum of disease call for new paradigms in approaching inborn errors of metabolism. The Society for Inherited Disorders has been at the forefront of advances in newborn screening for many years and faces new challenges in meeting new needs.

Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework

“…A practice-based evidence approach to evaluative research for IEMs requires, at a minimum, the development of a network of practice settings with standardized collection of data capturing relevant outcomes and interventions. 18 Such a network would support the strategy of multicenter collaboration and pooling of data that has been advocated to improve the robustness of research for rare diseases, 6 , 12 , 20 , 21 incorporating the strengths typically associated with patient registries, such as complete coverage of patient populations (to avoid selection bias), standardized case definitions, and longitudinal data collection. The resources that are needed to develop this network and data collection system highlight the importance of ensuring that sufficient information is collected to answer the most important research questions while also having the flexibility to accommodate emerging questions in a rapidly evolving field.…”