Pilot programs in newborn screening

UMMS Affiliation

Department of Pediatrics; New England Newborn Screening Program

Publication Date


Document Type



*Diffusion of Innovation; Genetic Testing; Humans; Infant, Newborn; Neonatal Screening; Pilot Projects; Predictive Value of Tests; Professional Competence; Reference Standards; United States


Genetics and Genomics | Medical Genetics | Pediatrics


The term "pilot study" has been used over the years to describe the evaluation of the many elements involved in deciding whether a proposed condition should be added to a newborn screening (NBS) panel, and until recently, was unilaterally used to describe the evaluation of the assay to be used before the condition was officially adopted by a state for its newborn screening panel. Since Guthrie's introduction of screening for PKU, each time a new condition was added to the panel, the screening assay itself was validated through a population-based trial, in which the test was performed with de-identified samples to avoid association between the test result and the infant. This is considered by the laboratory as the "pilot phase" of adding a new condition. To advance the science of NBS, especially to accommodate new technologies that may provide new types of information (genetic versus physiological) for each new condition, pilot programs are essential. Involvement of the clinical community serves to improve these evaluations and provides the needed clinical validation of decisions made as a result of it. This paper describes the historical context of pilot programs in population-based NBS that utilize laboratory-based markers as indicators of concern; specifically, three applications that demonstrate different approaches to the use of pilots in adding conditions to a NBS panel are described.

DOI of Published Version



Ment Retard Dev Disabil Res Rev. 2006;12(4):293-300. Link to article on publisher's site

Journal/Book/Conference Title

Mental retardation and developmental disabilities research reviews

Related Resources

Link to Article in PubMed

PubMed ID