Usability of NewSTEPs Data for Assessing the Characteristics of Infants with Newborn Screening Disorders

Most state newborn screening programs in the U.S. currently contribute case data to the Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs). To assess the usability of these data for research, we examined the completeness of key variables, particularly race and ethnicity. Data included 24,129 cases of 34 newborn screening disorders from 45 states available in NewSTEPs as of 31 August 2020. Birth years of cases ranged between 2006 and 2020. Rates of missing data for sex, gestational age, birth weight, and race/ethnicity were 3.8%, 31.7%, 7.0%, and 39.7%, respectively. After excluding 21 states for which ≥50% of cases had missing data on race and/or ethnicity, 16,010 cases from 24 states remained. The disorders with the highest proportions in which cases were recorded as Hispanic ethnicity/any race were methylmalonic acidemia (48.7%) and maple syrup urine disease (45.7%). Analyses indicated that sex and birth weight data in NewSTEPs are reasonably complete, but missing data are common for gestational age and race/ethnicity. Despite this, our analyses revealed several novel associations between race/ethnicity and newborn screening disorders, such as the high burden of maple syrup urine disease among Hispanic patients. This demonstrates the potential usefulness of NewSTEPs for research if investments in higher-quality data are made.

[1]  S. Grosse,et al.  Infants with Congenital Disorders Identified Through Newborn Screening — United States, 2015–2017 , 2020, MMWR. Morbidity and mortality weekly report.

[2]  M. Sontag,et al.  Development of National Newborn Screening Quality Indicators in the United States , 2019, International journal of neonatal screening.

[3]  J. Martin,et al.  Births: Final Data for 2017. , 2018, National vital statistics reports : from the Centers for Disease Control and Prevention, National Center for Health Statistics, National Vital Statistics System.

[4]  M. Sontag,et al.  NewSTEPs: The Establishment of a National Newborn Screening Technical Assistance Resource Center , 2017, International journal of neonatal screening.

[5]  G. Guo,et al.  Genetic Bio-Ancestry and Social Construction of Racial Classification in Social Surveys in the Contemporary United States , 2014, Demography.

[6]  L. Prosser,et al.  Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: statement of the US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children , 2013, Genetics in Medicine.

[7]  F. Lorey,et al.  Birth prevalence of disorders detectable through newborn screening by race/ethnicity , 2012, Genetics in Medicine.

[8]  C. McCulloch,et al.  NIH Disease Funding Levels and Burden of Disease , 2011, PloS one.

[9]  B. Zuckerman,et al.  Sickle Cell Disease: A Question of Equity and Quality , 2006, Pediatrics.