title: Development of requirements and a pilot registry for long-term follow-up of children with heritable conditions.
abstract: Advances in newborn screening (NBS) have led to earlier detection of heritable conditions. Little is known about the natural history of these conditions or the long-term benefits of NBS. This study will examine the user and data requirements necessary to develop a long-term follow-up registry for these patients. The system will subsequently be analyzed to determine its usefulness for research and reporting outcomes after long-term follow-up of patients.
authors.affiliation: University of Utah, Salt Lake City, Utah, USA.
authors.forename: Reid
authors.initials: R
authors.lastname: Holbrook
authors.forename: Catherine
authors.initials: C
authors.lastname: Staes
authors.forename: Nicola
authors.initials: N
authors.lastname: Longo
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Botkin
authors.forename: Rebecca
authors.initials: R
authors.lastname: Anderson
authors.forename: Joyce
authors.initials: J
authors.lastname: Mitchell
mesh_terms: D005500:Follow-Up Studies; D030342:Genetic Diseases, Inborn; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D010865:Pilot Projects; D012042:Registries