title: Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-term Follow-up Study: a collaborative multi-site approach to newborn screening outcomes research.
abstract: OBJECTIVE
  This article presents the rationale and design of the Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-Term Follow-up Study.
  
  
  METHODS
  This study is a collaboration of multi-site metabolic providers throughout the Mountain States region investigating the long-term outcomes of individuals with metabolic conditions detected by newborn screening.
  
  
  RESULTS
  The Mountain States Genetics Regional Collaborative Center's Metabolic Consortium developed disease-specific care plans that included baseline and follow-up datasets for all metabolic disorders detected by both standard and tandem mass spectrometry newborn screening.
  
  
  CONCLUSIONS
  These disease-specific care plans are used at multiple metabolic clinics throughout the Mountain States region. The shared datasets consisting of both performance and outcome indicators will be used to explore questions related to the treatment and outcome of these rare metabolic disorders. They will be used to assess the impact of newborn screening by comparing those individuals detected by newborn screening with those individuals diagnosed clinically, therefore allowing the systematic investigation of factors that impact long-term outcome.
authors.affiliation: Department of Pediatrics, University of Colorado Denver, Aurora, Colorado 80045, USA. Wright.Erica@tchden.org
authors.forename: Erica L
authors.initials: EL
authors.lastname: Wright
authors.forename: Johan L K
authors.initials: JL
authors.lastname: Van Hove
authors.forename: Janet
authors.initials: J
authors.lastname: Thomas
mesh_terms: D003299:Cooperative Behavior; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D033181:Information Dissemination; D013058:Mass Spectrometry; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000235:genetics; D015997:Neonatal Screening; D015205:Northwestern United States; D017063:Outcome Assessment, Health Care; D010346:Patient Care Management; D015980:Public Health Practice; D011785:Quality Assurance, Health Care; D015206:Southwestern United States; D016896:Treatment Outcome