Exploring barriers to long-term follow-up in newborn screening programs

Timothy Hoff, Adrienne Hoyt, Brad Therrell, Maria Ayoob

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


PURPOSE: To inform current policy debate regarding the public health role in long-term follow-up for individuals with disorders identified through state newborn testing efforts, by identifying and assessing key challenges, quality assurance activities, and long-term follow-up perceptions of state newborn screening programs. METHODS: A 23-question, web-based survey sent to newborn screening programs in all 50 states and Washington, DC, during January and February, 2005. RESULTS: Many U.S. newborn screening programs do not currently engage in structured long-term follow-up for newborns with diagnosed disorders. The newborn screening programs that do long-term follow-up face various challenges that may impact their ability to perform it effectively. Barriers include a lack of comprehensive quality assurance practices, outsourcing, financial constraints, and perceived communication problems with providers who treat these patients. CONCLUSIONS: A more in-depth analysis of the desired and feasible roles that should be played by newborn screening programs in long-term follow-up is needed. The wide variability within programs regarding the structure and implementation of long-term follow-up, and the relative absence of long-term follow-up systems components in some newborn screening programs, poses an interesting question regarding responsibility for evaluation of longer-term outcomes associated with newborn testing and disorder diagnosis.

Original languageEnglish (US)
Pages (from-to)563-570
Number of pages8
JournalGenetics in Medicine
Issue number9
StatePublished - Sep 2006
Externally publishedYes


  • Long-term follow-up
  • Newborn screening
  • Public health
  • State policy

ASJC Scopus subject areas

  • Genetics(clinical)


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