EP504: A novel visualization of state-by-state variability in newborn screening highlights underrepresentation of lysosomal storage disorders

Abstract

Newborn screening (NBS) is an important, cost-effective tool that can detect dozens of early-onset and treatable disorders in the approximately 3.6 million newborns who are screened in the US each year. The disorders covered on the NBS vary from state to state, and no two states screen for the same set of disorders. The state-level factors associated with the disorders covered on a particular state’s NBS have not been systematically investigated, even though this knowledge could have important implications for state and national NBS policy. Furthermore, the display of state-to-state NBS data in a visual format could provide a quick reference for policymakers to identify gaps in categories of disorders that are systematically underrepresented on the NBS at a national level. Publicly-available data on the disorders listed on the NBS in each state was obtained from www.babysfirsttest.org and www.newsteps.org, websites that curate state-level data on newborn screening, in Spring 2021. Disorders were then grouped into one of seven categories (eg, endocrine, amino acid, organic acid, fatty acid oxidation, lysosomal storage, hemoglobin, and other). Data was also sourced from publicly-available sources such as https://www.census.gov/ that contain state-level variables on population size and demographics. Data were collected using the program rvest (version 0.3.6) and were analyzed and visualized using ggplot2 (version 3.3.5) in the statistical programming language R (version 4.0.3). The resulting heatmap visualization of NBS contains disorders on the x-axis and states on the y-axis, with the value within each cell indicating whether a given state screens for a particular disorder. The NBS in Tennessee (67 disorders at the time of analysis), the state with the most conditions screened for, contains more than double the number of conditions screened for compared to Arizona, the state with the fewest conditions screened for (31 conditions). In general, states that have larger populations also tend to screen for more disorders on their NBS. In addition, 30 of the 36 primary disorders listed on the July 2018 version of the Recommended Uniform Screening Panel (RUSP), a national guideline of the minimum recommended conditions that should be present on a state’s NBS, were listed on the NBS for all states. Furthermore, the data highlight that few states are screening for lysosomal storage disorders (LSDs). In particular, Michigan, Tennessee, and Missouri are the only states to include 5 or more LSDs on their NBS panel, with over half of all states not including any LSDs on their NBS. This novel heatmap visualization highlights the striking variability present in NBS offerings between states. Summary statistics and an overview of the state-to-state variation in newborn screening in the U.S. can be rapidly ascertained from this visualization in a manner that was not previously possible. In particular, this visualization clearly demonstrates that lysosomal storage diseases are systematically underrepresented in newborn screening nationwide, despite the increasing availability of enzyme replacement therapies for this class of disorders. This publicly-available visualization of NBS will more easily allow advocates for particular disorders to identify gaps in NBS nationwide and within particular states.