UCEDD Slide of the Week

UCEDD Slide of the Week

Title: Early identification and access to care for inherited metabolic disorders in the Plain Community

Citation: Held PK,  Rice GM, Kuhl A, Drilias N,  Baker M, Deline J, Spicer G,  Sandrock C,  Seroogy CM, and JScott Schwoerer.  Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017.   Public Health Rep. 2019 Nov-Dec; 134(2 Suppl): 58S–63S. doi: 10.1177/0033354919878425   PMCID:   PMC6832032

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 newborns from the Plain community 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.

About the Lab: The mission of the Waisman Center, University Center for Excellence in Developmental Disabilities (UCEDD) is to support the full inclusion and self determination of people with developmental disabilities and their families.

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