title: What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children.
abstract: The US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children provides guidance on reducing the morbidity and mortality associated with heritable disorders detectable through newborn screening. Efforts to systematically evaluate health outcomes, beyond long-term survival, with a few exceptions, are just beginning. To facilitate these nascent efforts, the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children initiated a project to define the major overarching questions to be answered to assure that newborn screening is meeting its goal of achieving the best quality outcome for the affected children and their families. The questions identified follow the central components of long-term follow-up-care coordination, evidence-based treatment, continuous quality improvement, and new knowledge discovery-and are framed from the perspectives of the state and nation, primary and specialty healthcare providers, and the impacted families. These overarching questions should be used to guide the development of long-term follow-up data systems, quality health indicators, and specific data elements for evaluating the newborn screening system.
authors.affiliation: Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA 30333, USA. chinton@cdc.gov
authors.forename: Cynthia F
authors.initials: CF
authors.lastname: Hinton
authors.forename: Lisa
authors.initials: L
authors.lastname: Feuchtbaum
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Kus
authors.forename: Alex R
authors.initials: AR
authors.lastname: Kemper
authors.forename: Susan A
authors.initials: SA
authors.lastname: Berry
authors.forename: Jill
authors.initials: J
authors.lastname: Levy-Fisch
authors.forename: Julie
authors.initials: J
authors.lastname: Luedtke
authors.forename: Celia
authors.initials: C
authors.lastname: Kaye
authors.forename: Coleen A
authors.initials: CA
authors.lastname: Boyle
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005500:Follow-Up Studies; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015997:Neonatal Screening; D059039:Standard of Care; D014481:United States