Development of requirements and a pilot registry for long-term follow-up of children with heritable conditions.
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.
Holbrook
Reid
R
University of Utah, Salt Lake City, Utah, USA.
Staes
Catherine
C
Longo
Nicola
N
Botkin
Jeffrey
J
Anderson
Rebecca
R
Mitchell
Joyce
J
D005500:Follow-Up Studies; D030342:Genetic Diseases, Inborn; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D010865:Pilot Projects; D012042:Registries