At a Glance
Newborn Screening Decision Support
ONC and HRSA are actively developing use cases and other health IT resources around newborn screening. A use case is available at: http://www.hhs.gov/healthit/usecases/documents/NBSDetailedUseCase.pdf . The U.S. National Library of Medicine (NLM) has published the Newborn Screening Coding and Terminology to promote and facilitate the use of electronic health data standards for the conditions recommended for screening by the HHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). This is available at: http://newbornscreeningcodes.nlm.nih.gov/ .
The National Newborn Screening and Genetics Resource Center (http://genes-r-us.uthscsa.edu/ ) provides continuously updated information on the conditions screened for in each state. In addition, links are available to each state program. The Resource Center also provides educational materials for clinicians and family members.
Well-described clinical algorithms have been developed to guide general pediatricians and subspecialists in the process of newborn screening. These are available at: http://pediatrics.aappublications.org/content/121/1/192.abstract. The requirements were designed to support these algorithms. In addition, these requirements support the transition from diagnosis through screening to chronic condition management and long-term follow-up as described in Kemper AR, Boyle CA, Aceves J, et al. Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Genet Med. 2008:10:259-261
ONC and HRSA newborn screening use cases: ONC and HRSA developed a detailed use case related to newborn screening, at http://www.hhs.gov/healthit/usecases/documents/NBSDetailedUseCase.pdf
This is a Newborn Screening Use Case document developed by the Office of the National Coordinator for Health Information Technology (ONC to represent the AHIC priorities and provide context for the national agenda activities, beginning with the selection of harmonized standards by the Healthcare Information Technology Standards Panel (HITSP AHIC specifically requested that the Newborn Screening Use Case focus on the ability to order and communicate the results from screenings in various clinical domains. [Last accessed 27 September 2012]