Puffenberger EG, Jinks RN, Sougnez C et al (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. Puffenberger EG, Hu-Lince D, Parod JM et al (2004) Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Am J Med Genet Part C Semin Med Genet 121C(1):18–31. Puffenberger EG (2003) Genetic heritage of the old order Mennonites of southeastern Pennsylvania. Nijmeijer SCM, Conijn T, Lakeman P, Henneman L, Wijburg FA, Haverman L (2019) Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism. Miller K, Yost B, Abbott C et al (2019) Health needs assessment of five Pennsylvania Plain populations. Miller K, Yost B, Abbott C et al (2017) Health needs assessment of Plain populations in Lancaster County, Pennsylvania. Johns Hopkins University Press, Baltimore Kraybill DB, Johnson-Weiner K, Nolt SM (2013) The Amish. Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH (2002) Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Johnston JJ, Kelley RI, Crawford TO et al (2000) A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Genet Med Off J Am Coll Med Genet 16(6):484–490. Hinton CF, Mai CT, Nabukera SK et al (2014) Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings. įurnier SM, Durkin MS, Baker MW (2020) Translating molecular technologies into routine newborn screening practice. J Plain Anabaptist Commun 1(2):104–125įox MD, Carson VJ, Feng HZ et al (2018) TNNT1 nemaline myopathy: natural history and therapeutic frontier. ĭonnermeyer JF (2021) How Do I Count Thee? Various angles for examining the doubling times of the Amish.

Available from: Ĭrowgey EL, Washburn MC, Kolb EA, Puffenberger EG (2019) Development of a novel next-generation sequencing assay for carrier screening in old order Amish and Mennonite populations of Pennsylvania. Although Plain community members share many common outward characteristics, our survey responses suggest diversity in their views of genetic testing and support laboratory methods that can be flexible to varied needs of individuals.Īmish Population (2021) Young Center for Anabaptist and Pietist Studies, Elizabethtown College. Reported prior genetic testing was positively associated with stated interest in carrier screening and negatively associated with testing a symptomatic child. Reported utilization of NBS was positively associated with stated interest in genetic testing for an asymptomatic child. Mennonites were more likely to respond in favor of carrier screening for metabolic disorders and other surgical conditions and less likely to respond in favor of asymptomatic testing for neurologic disorders and lethal disorders compared to Amish. Overall response rate was 39% ( N = 378 183 Amish, 193 Mennonite 2 not Amish/Mennonite).

A mailed paper survey ( N = 959) of demographics, NBS utilization, prior genetic testing, and preferences for categorical genetic disorder and defined clinical context testing was developed. We assessed newborn screening (NBS) utilization, prior genetic testing, and perceptions of genetic testing among Wisconsin Plain communities to guide implementation and utilization of a population-specific NGS gene panel testing. Amish and Mennonite (Plain) communities have increased prevalence of many recessively inherited disorders due to founder variants that can be identified using next-generation sequencing (NGS).

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