Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States

Sarah Viall; Sneha Jain; Kimberly Chapman; Nicholas Ah Mew; Marshall Summar; Brian Kirmse; Members of the Division of Genetics & Metabolism at Children's National Health System

doi:10.1016/j.ymgme.2015.11.002

Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States

Mol Genet Metab. 2015 Dec;116(4):226-30. doi: 10.1016/j.ymgme.2015.11.002. Epub 2015 Nov 4.

Authors

Sarah Viall¹, Sneha Jain², Kimberly Chapman³, Nicholas Ah Mew³, Marshall Summar³, Brian Kirmse⁴; Members of the Division of Genetics & Metabolism at Children's National Health System

Affiliations

¹ Children's National Health System and George Washington University, Washington, DC, United States. Electronic address: sviall@childrensnational.org.
² Virginia Commonwealth University, Richmond, VA, United States.
³ Children's National Health System and George Washington University, Washington, DC, United States.
⁴ Children's National Health System and George Washington University, Washington, DC, United States; University of Mississippi Medical Center, Jackson, MS, United States.

PMID: 26549574
DOI: 10.1016/j.ymgme.2015.11.002

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.

Keywords: Inborn errors of metabolism; Inherited metabolic disorders; Newborn screen; PKU.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

District of Columbia
Female
Health Care Surveys
Humans
Infant
Infant, Newborn
Male
Maryland
Metabolism, Inborn Errors / diagnosis*
Metabolism, Inborn Errors / genetics
Metabolism, Inborn Errors / therapy
Neonatal Screening / organization & administration*
Physicians, Primary Care / organization & administration
Time-to-Treatment / statistics & numerical data*
Virginia