{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T01:47:41Z","timestamp":1791856061899,"version":"4.3.4"},"reference-count":11,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T00:00:00Z","timestamp":1658188800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Michigan Institute for Healthcare Policy and Innovation","award":["1K08DA048110-01"],"award-info":[{"award-number":["1K08DA048110-01"]}]},{"DOI":"10.13039\/100000026","name":"National Institute on Drug Abuse","doi-asserted-by":"publisher","award":["1K08DA048110-01"],"award-info":[{"award-number":["1K08DA048110-01"]}],"id":[{"id":"10.13039\/100000026","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>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 \u226550% 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.<\/jats:p>","DOI":"10.3390\/ijns8030042","type":"journal-article","created":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T05:37:53Z","timestamp":1658209073000},"page":"42","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Usability of NewSTEPs Data for Assessing the Characteristics of Infants with Newborn Screening Disorders"],"prefix":"10.3390","volume":"8","author":[{"given":"Amel","family":"Omari","sequence":"first","affiliation":[{"name":"Department of Health Behavior and Health Education, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah L.","family":"Reeves","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Susan B. Meister Child Health Evaluation and Research Center, University of Michigan Medical School, Ann Arbor, MI 48109, USA"},{"name":"Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa A.","family":"Prosser","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Susan B. Meister Child Health Evaluation and Research Center, University of Michigan Medical School, Ann Arbor, MI 48109, USA"},{"name":"Department of Health Management and Policy, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa S.","family":"Creary","sequence":"additional","affiliation":[{"name":"Department of Health Management and Policy, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayesha","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan Medical School, Ann Arbor, MI 48109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4081-272X","authenticated-orcid":false,"given":"Kao-Ping","family":"Chua","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Susan B. Meister Child Health Evaluation and Research Center, University of Michigan Medical School, Ann Arbor, MI 48109, USA"},{"name":"Department of Health Management and Policy, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1038\/gim.2013.98","article-title":"Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: Statement of the US Department of Health and Human Services Secretary\u2019s Advisory Committee on Heritable Disorders in Newborns and Children","volume":"16","author":"Kemper","year":"2014","journal-title":"Genet. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1038\/gim.2012.76","article-title":"Birth prevalence of disorders detectable through newborn screening by race\/ethnicity","volume":"14","author":"Feuchtbaum","year":"2012","journal-title":"Genet. Med."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Ojodu, J., Singh, S., Kellar-Guenther, Y., Yusuf, C., Jones, E., Wood, T., Baker, M., and Sontag, M.K. (2017). NewSTEPs: The Establishment of a National Newborn Screening Technical Assistance Resource Center. Int. J. Neonatal Screen., 4.","DOI":"10.3390\/ijns4010001"},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Yusuf, C., Sontag, M.K., Miller, J., Kellar-Guenther, Y., McKasson, S., Shone, S., Singh, S., and Ojodu, J. (2019). Development of National Newborn Screening Quality Indicators in the United States. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5030034"},{"key":"ref_5","first-page":"1265","article-title":"Infants with Congenital Disorders Identified Through Newborn Screening\u2014United States, 2015\u20132017","volume":"69","author":"Sontag","year":"2020","journal-title":"MMWR"},{"key":"ref_6","first-page":"1","article-title":"Births: Final Data for 2017","volume":"67","author":"Martin","year":"2018","journal-title":"Natl. Vital Stat. Rep."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/s13524-013-0242-0","article-title":"Genetic Bio-Ancestry and Social Construction of Racial Classification in Social Surveys in the Contemporary United States","volume":"51","author":"Guo","year":"2014","journal-title":"Demography"},{"key":"ref_8","unstructured":"Wynshaw-Boris, A. (2020, September 26). American Society of Human Genetics Statement Regarding Concepts of \u201cGood Genes\u201d and Human Genetics. Available online: https:\/\/www.ashg.org\/publications-news\/ashg-news\/statement-regarding-good-genes-human-genetics\/."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"953","DOI":"10.2105\/AJPH.2012.300773","article-title":"The State of Research on Racial\/Ethnic Discrimination in The Receipt of Health Care","volume":"102","author":"Shavers","year":"2012","journal-title":"Am. J. Public Health"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1542\/peds.2005-1611","article-title":"Sickle Cell Disease: A Question Equity and Quality","volume":"117","author":"Smith","year":"2006","journal-title":"Pediatrics"},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Gillum, L.A., Gouveia, C., Dorsey, E.R., Pletcher, M., Mathers, C.D., McCulloch, C.E., and Johnston, S.C. (2011). NIH Disease Funding Levels and Burden of Disease. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0016837"}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/8\/3\/42\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:53:29Z","timestamp":1760140409000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/8\/3\/42"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,19]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,9]]}},"alternative-id":["ijns8030042"],"URL":"https:\/\/doi.org\/10.3390\/ijns8030042","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,19]]}}}