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Usability of NewSTEPs Data for Assessing the Characteristics of Infants with Newborn Screening Disorders
Amel Omari1, Sarah L Reeves2,3, Lisa A Prosser2,4
1Department of Health Behavior and Health Education, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA.
Insights
Newborn screening data in NewSTEPs are useful for research, but race/ethnicity data completeness is a challenge. Improved data quality could reveal more about newborn screening disorders in diverse populations.
Area of Science:
- Genetics and Genomics
- Public Health
- Pediatrics
Background:
- Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs) collects data from most U.S. state programs.
- Assessing data completeness is crucial for leveraging NewSTEPs for research.
- Key variables include sex, gestational age, birth weight, and race/ethnicity.
Purpose of the Study:
- To evaluate the completeness of key variables in the NewSTEPs database for research purposes.
- To identify specific data gaps, particularly concerning race and ethnicity.
- To explore potential research applications despite data limitations.
Main Methods:
- Analyzed 24,129 cases of 34 newborn screening disorders from 45 states in NewSTEPs (data up to August 31, 2020).
- Calculated missing data rates for sex, gestational age, birth weight, and race/ethnicity.
- Excluded states with over 50% missing race/ethnicity data, retaining 16,010 cases from 24 states for further analysis.
Main Results:
- Missing data rates were 3.8% (sex), 31.7% (gestational age), 7.0% (birth weight), and 39.7% (race/ethnicity).
- After exclusions, race/ethnicity data were more complete for the remaining 24 states.
- Methylmalonic acidemia (48.7%) and maple syrup urine disease (45.7%) showed high proportions of Hispanic cases.
Conclusions:
- Sex and birth weight data in NewSTEPs are relatively complete, but gestational age and race/ethnicity data require improvement.
- Despite data gaps, novel associations between race/ethnicity and newborn screening disorders were identified.
- Enhancing data quality in NewSTEPs is essential to unlock its full research potential for understanding rare diseases across diverse populations.
Abstract:
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.
