title: Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.
abstract: The secretary of the US Department of Health and Human Services in February 2016 recommended that X-linked adrenoleukodystrophy (X-ALD) be added to the recommended uniform screening panel for state newborn screening programs. This decision was informed by data presented on the accuracy of screening from New York, the only state that currently offers X-ALD newborn screening, and published and unpublished data showing health benefits of earlier treatment (hematopoietic stem cell transplantation and adrenal hormone replacement therapy) for the childhood cerebral form of X-ALD. X-ALD newborn screening also identifies individuals with later-onset disease, but poor genotype-phenotype correlation makes predicting health outcomes difficult and might increase the risk of unnecessary treatment. Few data are available regarding the harms of screening and presymptomatic identification. Significant challenges exist for implementing comprehensive X-ALD newborn screening, including incorporation of the test, coordinating follow-up diagnostic and treatment care, and coordination of extended family testing after case identification.Genet Med 19 1, 121-126.
authors.affiliation: Duke Clinical Research Institute, Duke University, Durham, North Carolina, USA.
authors.forename: Alex R
authors.identifier: 0000-0001-5491-3997
authors.initials: AR
authors.lastname: Kemper
authors.affiliation: Department of Pediatrics, University of Miami, Coral Gables, Florida, USA.
authors.forename: Jeffrey
authors.identifier: 0000-0003-1792-1888
authors.initials: J
authors.lastname: Brosco
authors.affiliation: Department of Pediatrics, University of Massachusetts Medical School, Jamaica Plain, Massachusetts, USA.
authors.forename: Anne Marie
authors.initials: AM
authors.lastname: Comeau
authors.affiliation: Department of Pediatrics, Columbia University Medical Center, New York, New York, USA.
authors.forename: Nancy S
authors.initials: NS
authors.lastname: Green
authors.affiliation: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
authors.forename: Scott D
authors.identifier: 0000-0003-1078-6855
authors.initials: SD
authors.lastname: Grosse
authors.affiliation: Association of Public Health Laboratories, Silver Spring, Maryland, USA.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Jones
authors.affiliation: Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Kwon
authors.affiliation: Duke Clinical Research Institute, Duke University, Durham, North Carolina, USA.
authors.forename: Wendy K K
authors.identifier: 0000-0002-4110-9059
authors.initials: WK
authors.lastname: Lam
authors.affiliation: Association of Public Health Laboratories, Silver Spring, Maryland, USA.
authors.forename: Jelili
authors.initials: J
authors.lastname: Ojodu
authors.affiliation: Child Health Evaluation and Research Unit, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Prosser
authors.affiliation: Texas Department of State Health Services, Austin, Texas, USA.
authors.forename: Susan
authors.initials: S
authors.lastname: Tanksley
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1 / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D026683:Advisory Committees; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening; D009518:New York; D010641:Phenotype; D014481:United States; D014483:United States Dept. of Health and Human Services
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1