Integration of new genetic diseases into statewide newborn screening: New England experience

UMMS Affiliation

Department of Pediatrics; New England Newborn Screening Program

Publication Date


Document Type



Child Health Services; Cohort Studies; Female; Forecasting; Genetic Diseases, Inborn; *Genetic Testing; Humans; Incidence; Infant, Newborn; Male; *Neonatal Screening; New England; Referral and Consultation


Genetics and Genomics | Medical Genetics | Pediatrics


Using a data set of newborn screening specimens tested by the New England Newborn Screening Program (NENSP) between January 1999 and February 2003, we analyzed the number of infants with positive newborn screening results and determined how many positive screening results were due to a recent multiplex expansion of services in some of the states. We found that for the subset of the 4-year cohort for which there was a 233% increase in the number of disorders screened (from 9 to 30 disorders), there was a 31% increase in the number of affected infants identified by the screen. We project that if all states in the program expanded their services and if the incidence of disorders is similar across states, there would be an observed 45% increase in the number of infants detected by the screen and a 43% increase in the number of infants for whom the screening algorithm would require some contact with the infants' health care provider. Furthermore, of those requiring contact, we project a 300% increase in the number of screened-positive infants who would be referred to tertiary care centers for a diagnostic evaluation. Increased contact with the medical community from additions to newborn screening as demonstrated in this report emphasizes the need for an approach in which the newborn screening program assures coordinated communications between birth units, laboratory, primary health care providers, and specialists.

DOI of Published Version



Am J Med Genet C Semin Med Genet. 2004 Feb 15;125C(1):35-41. Link to article on publisher's site

Journal/Book/Conference Title

American journal of medical genetics. Part C, Seminars in medical genetics

Related Resources

Link to Article in PubMed

PubMed ID