Population-based screening of newborns: Findings from the newborn screening expansion study (part two)

Front Genet. 2022 Sep 1:13:867354. doi: 10.3389/fgene.2022.867354. eCollection 2022.


Rapid advances in genomic technologies to screen, diagnose, and treat newborns will significantly increase the number of conditions in newborn screening (NBS). We previously identified four factors that delay and/or complicate NBS expansion: 1) variability in screening panels persists; 2) the short duration of pilots limits information about interventions and health outcomes; 3) recent recommended uniform screening panel (RUSP) additions are expanding the definition of NBS; and 4) the RUSP nomination and evidence review process has capacity constraints. In this paper, we developed a use case for each factor and suggested how model(s) could be used to evaluate changes and improvements. The literature on models was reviewed from a range of disciplines including system sciences, management, artificial intelligence, and machine learning. The results from our analysis highlighted that there is at least one model which could be applied to each of the four factors that has delayed and/or complicate NBS expansion. In conclusion, our paper supports the use of modeling to address the four challenges in the expansion of NBS.

Keywords: ducheme muscular dystrophy; genomics; immunodeficiencies; metabolic disease; newborn screening; pilot studies; population based screening; public health.

Publication types

  • Review