title: Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population.
abstract: This community project is an initiative through the University of Wisconsin Biochemical Genetics Clinic and the Wisconsin Newborn Screening Program to identify members of the Plain population who are at risk for having children with maple syrup urine disease (MSUD) or propionic acidemia (PA) or who have PA.
  
  
  
  Because of the high prevalence of metabolic conditions in the Plain population and the importance of early intervention, a statewide outreach project was developed to provide targeted variant analysis of the common MSUD and PA pathogenic variants in this population through health-care provider distribution of blood spot testing kits. Awareness was achieved through outreach efforts with the state midwives guild and Plain population meetings.
  
  
  
  Eighty individuals were tested; diagnosis was confirmed for three adults with PA and one couple was identified as being at risk for having a child with PA. Genetic counseling was provided to those identified. Follow-up diagnostic testing was completed for the at-risk couple's children; none were found to be affected.
  
  
  
  This initiative successfully provided accessible clinical testing for MSUD and PA for a high-risk population. Early identification of at-risk couples sets the foundation for early care of at-risk neonates, thereby improving future clinical outcomes.Genet Med 19 3, 352-356.
authors: Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.|Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin, USA.
authors: Ashley
authors: 0000-0001-6610-285X
authors: A
authors: Kuhl
authors: Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA.
authors: Sandra
authors: S
authors: van Calcar
authors: Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin, USA.|Newborn Screen Lab at Wisconsin State Lab of Hygiene, Newborn Screen Lab Madison, Madison, Wisconsin, USA.
authors: Mei
authors: 0000-0002-8707-1834
authors: M
authors: Baker
authors: Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin, USA.
authors: Christine M
authors: CM
authors: Seroogy
authors: Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.|Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin, USA.
authors: Gregory
authors: G
authors: Rice
authors: Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.|Department of Pediatrics, University of Wisconsin-Madison, Madison, Wisconsin, USA.
authors: Jessica
authors: J
authors: Scott Schwoerer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D061365:Amish / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005817:Genetic Counseling / Q000379:methods; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D008875:Middle Aged; D015997:Neonatal Screening / Q000379:methods; D056693:Propionic Acidemia / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D014922:Wisconsin