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Genet Med. 2017 Jan;19(1):121-126. doi: 10.1038/gim.2016.68. Epub 2016 Jun 23.

Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.

Author information

1
Duke Clinical Research Institute, Duke University, Durham, North Carolina, USA.
2
Department of Pediatrics, University of Miami, Coral Gables, Florida, USA.
3
Department of Pediatrics, University of Massachusetts Medical School, Jamaica Plain, Massachusetts, USA.
4
Department of Pediatrics, Columbia University Medical Center, New York, New York, USA.
5
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
6
Association of Public Health Laboratories, Silver Spring, Maryland, USA.
7
Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
8
Child Health Evaluation and Research Unit, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.
9
Texas Department of State Health Services, Austin, Texas, USA.

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accuracy of screening from New York, the only state that currently offers X-ALD newborn screening, and published and unpublished data showing health benefits of earlier treatment (hematopoietic stem cell transplantation and adrenal hormone replacement therapy) for the childhood cerebral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.

PMID:
27337030
PMCID:
PMC5182180
DOI:
10.1038/gim.2016.68
[Indexed for MEDLINE]
Free PMC Article

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