NewSTEPs

NewSTEPs (The Newborn Screening Technical assistance and Evaluation Program) is an informatics project by the Association of Public Health Laboratories (APHL) for newborn screening programs that offers a data repository as well as continuous quality improvement resources. Monthly data is sent by state and partnered newborn screening programs in various categories, including testing and specimen collection metrics as well as metrics on confirmed cases of screened conditions discovered through newborn screening testing.

Newborn screening programs and partners are only asked to report metrics they are able to provide. Some statistics are considered priority metrics that laboratories are most likely to track, such as unsatisfactory specimens, time from birth to reporting,

Introduction

NewSTEPs was created in 2015 with funding from the Health Resources and Services Administration of the U.S. Department of Health and Human Services (HHS) .

Background

Newborn Screening

State-mandated newborn screening programs began in 1963 in Massachusetts, Delaware, Vermont, and Oregon adopted Robert Guthrie’s bacterial assay for detection of phenylketonuria (PKU) . Modern newborn screening encompasses screenings for hearing, critical congenital heart disease (CCHD), and dried blood spot testing for metabolic and genetic disorders. Modern dried blood spot screening utilizes several different techniques including PCR, fluorescent immunoassay, tandem mass spectroscopy and more recently, genetic sequencing.

Recommended Uniform Screening Panel (RUSP)

The testing panel offered varies between states, but the need for uniformity across programs has been recognized. The U.S. Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children convenes annually to review recommendations for addition to the Recommended Uniform Screening Panel, considered the core panel for laboratory newborn screening. As of 2022, the RUSP lists 37 core disorders and 26 secondary disorders suggested for inclusion in states’ newborn screening panels. NewSTEPs compiles information about state and partner programs and panels into state profiles and reports regarding program operations.

Metrics

NewSTEPs collects data for eight Quality Indicator categories: unsatisfactory specimens, missing essential information, unscreened newborns, cases lost to follow up, timeliness, positive screenings, confirmed positive screenings, and missed cases. All eight categories have sub-categories consisting of a varying number of individual metrics.

Some disorders detected by newborn screening are time-critical , meaning faster results improve outcomes for the affected newborns. Because of the critical nature of the testing, timeliness is tracked across many of the Quality Indicators collected, including time from birth to first specimen collection at the birthing center, time from collection to receipt in the laboratory, time from receipt to reporting, and time from birth to reporting of results. Other metrics include information regarding specimens received that are unsatisfactory for testing due to specimen quality or lack of identifying information.

Usability in Studies

A study published in 2022 looking at data from 2006-2020 within the NewSTEPs repository found that 37.8% of cases reported were missing information about the race and/or ethnicity of the affected baby and 31.7% were missing information about the newborn's gestational age. However, the same study found information about sex and birthweight was fairly complete, with only 3.8% and 7.0% missing, respectively. Highlighting the importance of complete data, the analysis found novel associations for Mucopolysaccharidosis I (MPS I) in black babies and Maple Syrup Urine Disease (MSUD) in hispanic babies of any race.