Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England

UMMS Affiliation

Department of Pediatrics; New England Newborn Screening Program

Publication Date


Document Type



Child; Evidence-Based Medicine; Follow-Up Studies; Genetic Diseases, Inborn; *Health Plan Implementation; Humans; Infant; Infant, Newborn; *Neonatal Screening; New England; Public Health Practice; *Quality Assurance, Health Care


Genetics and Genomics | Medical Genetics | Pediatrics


To fulfill the purpose of newborn screening, comprehensive newborn screening programs must ensure that infants and children with newborn screening conditions are not only diagnosed but also they maintain engagement in appropriate lifespan and family-centered care for best outcomes. To ensure success, monitoring and care-coordination requires a systems-based approach to streamline the significant surveillance activities, which must not overburden the critical core functions of newborn screening nor the health care delivery system. Furthermore, treatment and care can only be improved by translating reliable knowledge into changes in practice, a process that requires evaluations of outcomes that are confirmable at the local level and translatable into a larger, e.g., national data set. We describe a sustainable public health systems approach to long-term follow-up, built on existing comprehensive newborn screening infrastructure and compatible with national endeavors. We also describe early experience with implementation of a centralized public-health tracking model and show that a significant proportion of cases detected through newborn screening do not continue with subspecialty care as they get older.


Genet Med. 2010 Dec;12(12 Suppl):S220-7. Link to article on publisher's site

Journal/Book/Conference Title

Genetics in medicine : official journal of the American College of Medical Genetics

Related Resources

Link to Article in PubMed

PubMed ID