Literature DB >> 31682555

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

Patrice K Held1,2, Gregory M Rice1, Ashley Kuhl1, Nicoletta Drilias1, Mei Baker1,2, James Deline3, Gretchen Spicer3, Claire Sandrock3, Christine M Seroogy1, Jessica Scott Schwoerer1.   

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.

Entities:  

Keywords:  Amish; Mennonite; education; inborn errors of metabolism; newborn screening; public health program

Mesh:

Year:  2019        PMID: 31682555      PMCID: PMC6832032          DOI: 10.1177/0033354919878425

Source DB:  PubMed          Journal:  Public Health Rep        ISSN: 0033-3549            Impact factor:   2.792


  8 in total

1.  Cross-Sectional Survey on Newborn Screening in Wisconsin Amish and Mennonite Communities.

Authors:  Shelby Sieren; Meghan Grow; Matthew GoodSmith; Gretchen Spicer; James Deline; Qianqian Zhao; Mary J Lindstrom; Anne Bradford Harris; Angela M Rohan; Christine M Seroogy
Journal:  J Community Health       Date:  2016-04

2.  Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.

Authors:  E G Puffenberger
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-08-15       Impact factor: 3.908

3.  Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.

Authors:  D Holmes Morton; Caroline S Morton; Kevin A Strauss; Donna L Robinson; Erik G Puffenberger; Christine Hendrickson; Richard I Kelley
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-08-15       Impact factor: 3.908

Review 4.  Genetics, medicine, and the Plain people.

Authors:  Kevin A Strauss; Erik G Puffenberger
Journal:  Annu Rev Genomics Hum Genet       Date:  2009       Impact factor: 8.929

5.  Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.

Authors:  Jessica Scott Schwoerer; Sandra van Calcar; Gregory M Rice; James Deline
Journal:  Mol Genet Metab Rep       Date:  2016-06-02

6.  Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.

Authors:  Ashley Kuhl; Sandra van Calcar; Mei Baker; Christine M Seroogy; Gregory Rice; Jessica Scott Schwoerer
Journal:  Genet Med       Date:  2016-08-11       Impact factor: 8.822

Review 7.  Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Authors:  Matthias R Baumgartner; Friederike Hörster; Carlo Dionisi-Vici; Goknur Haliloglu; Daniela Karall; Kimberly A Chapman; Martina Huemer; Michel Hochuli; Murielle Assoun; Diana Ballhausen; Alberto Burlina; Brian Fowler; Sarah C Grünert; Stephanie Grünewald; Tomas Honzik; Begoña Merinero; Celia Pérez-Cerdá; Sabine Scholl-Bürgi; Flemming Skovby; Frits Wijburg; Anita MacDonald; Diego Martinelli; Jörn Oliver Sass; Vassili Valayannopoulos; Anupam Chakrapani
Journal:  Orphanet J Rare Dis       Date:  2014-09-02       Impact factor: 4.123

8.  Long-term outcomes in Amish patients diagnosed with propionic acidemia.

Authors:  Jessica Scott Schwoerer; Sarah Clowes Candadai; Patrice K Held
Journal:  Mol Genet Metab Rep       Date:  2018-06-22
  8 in total
  1 in total

1.  Advancing the Public Health Laboratory System Through Partnerships.

Authors:  Kirsten St George; Renée Ned-Sykes; Reynolds Salerno; Michael A Pentella
Journal:  Public Health Rep       Date:  2019 Nov/Dec       Impact factor: 2.792

  1 in total

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