Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017. (November 2019)

• Record Type: Journal Article
• Authors: Held, Patrice K.; Rice, Gregory M.; Kuhl, Ashley; Drilias, Nicoletta; Baker, Mei; Deline, James; Spicer, Gretchen; Sandrock, Claire; Seroogy, Christine M.; Schwoerer, Jessica Scott
• Other Names: Ned-Sykes Renee M. guest-editor.; Pentella Michael A. guest-editor.; Salerno Reynolds M. guest-editor.; St. George Kirsten guest-editor.
• Is Part Of: Public health reports. Volume 134:Number 2(2019)Supplement
• Page Start: 58S
• Page End: 63S
• Publication Date: 2019-11
• Subjects: newborn screening -- public health program -- Amish -- Mennonite -- inborn errors of metabolism -- education; Public health -- United States -- Periodicals; 614.0973
• DOI: 10.1177/0033354919878425
• Languages: English
• ISSNs: 0033-3549

Abstract

The Plain community is the fastest-growing religious minority in Wisconsin. This community has a high incidence of genetic disorders, many of which are identifiable through newborn screening. We describe efforts by the Wisconsin Newborn Screening Program (WNSP) to improve health care in the Plain community by targeting early identification of, and intervention for, patients with inherited metabolic disorders. WNSP formed partnerships with families and health care providers to increase awareness of screening procedures and the intended benefits of screening, modify testing algorithms to enhance detection, and establish medical homes for patients with confirmed disorders. The estimated number of Plain newborns screened increased by 25.5% during the study period, from 547 in 2011 to 736 in 2017; 122 persons underwent carrier testing, and 143 newborns received second-tier testing. From 2014 to 2017, affected patients received 71 metabolic evaluations in their community medical home without travel to major health centers. This article demonstrates how a comprehensive public health program can help increase screening rates, enhance detection, and establish follow-up care in a hard-to-reach religious community. A key lesson learned was the importance of communication among all stakeholders to develop an effective public health program.