title: Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States.
abstract: For most inherited metabolic disorders on newborn screening (NBS) panels, prompt, expert confirmation and treatment are critical to optimize clinical outcomes for children with inherited metabolic diseases (IMD). In the Washington Metropolitan Area (WMA), 3 different short-term follow-up (STFU) systems exist for linking infants with positive newborn screens for IMD to appropriate specialty care. We diagrammed the STFU systems for the District of Columbia, Maryland and Virginia and calculated clinically relevant intervals of time between NBS collection and diagnosis/treatment initiation. We also surveyed representatives from 48 other state NBS programs to classify the STFU systems in the rest of the country. We found that in the WMA the STFU system that did not include the IMD specialist at the same time as the primary care provider (PCP) was associated with a longer median collection-to-specialist contact interval for true positive NBS for critical diagnoses (p=0.013). Nationally, 25% of state NBS programs report having a STFU system that does not include the IMD specialist at the same time as the PCP. In conclusion, there is variability among the STFU systems employed by NBS programs in the US which may lead to delays in diagnosis confirmation and treatment. National standards for STFU systems that include early involvement of an IMD specialist for all presumed positive NBS results may decrease the collection-to-specialist contact interval which could improve clinical outcomes in children with IMD.
authors.affiliation: Children's National Health System and George Washington University, Washington, DC, United States. Electronic address: sviall@childrensnational.org.
authors.forename: Sarah
authors.initials: S
authors.lastname: Viall
authors.affiliation: Virginia Commonwealth University, Richmond, VA, United States.
authors.forename: Sneha
authors.initials: S
authors.lastname: Jain
authors.affiliation: Children's National Health System and George Washington University, Washington, DC, United States.
authors.forename: Kimberly
authors.initials: K
authors.lastname: Chapman
authors.affiliation: Children's National Health System and George Washington University, Washington, DC, United States.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Ah Mew
authors.affiliation: Children's National Health System and George Washington University, Washington, DC, United States.
authors.forename: Marshall
authors.initials: M
authors.lastname: Summar
authors.affiliation: Children's National Health System and George Washington University, Washington, DC, United States; University of Mississippi Medical Center, Jackson, MS, United States.
authors.forename: Brian
authors.initials: B
authors.lastname: Kirmse
mesh_terms: D004219:District of Columbia; D005260:Female; D019538:Health Care Surveys; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008396:Maryland; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D015997:Neonatal Screening / Q000458:organization & administration*; D058007:Physicians, Primary Care / Q000458:organization & administration; D061665:Time-to-Treatment / Q000706:statistics & numerical data*; D014768:Virginia
keywords: Inborn errors of metabolism; Inherited metabolic disorders; Newborn screen; PKU