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

Publication ,  Journal Article
Kemper, AR; Brosco, J; Comeau, AM; Green, NS; Grosse, SD; Jones, E; Kwon, JM; Lam, WKK; Ojodu, J; Prosser, LA; Tanksley, S
Published in: Genetics in medicine : official journal of the American College of Medical Genetics
January 2017

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accuracy of screening from New York, the only state that currently offers X-ALD newborn screening, and published and unpublished data showing health benefits of earlier treatment (hematopoietic stem cell transplantation and adrenal hormone replacement therapy) for the childhood cerebral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

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Published In

Genetics in medicine : official journal of the American College of Medical Genetics

DOI

EISSN

1530-0366

ISSN

1098-3600

Publication Date

January 2017

Volume

19

Issue

1

Start / End Page

121 / 126

Related Subject Headings

  • United States Dept. of Health and Human Services
  • United States
  • Phenotype
  • New York
  • Neonatal Screening
  • Mutation
  • Male
  • Infant, Newborn
  • Humans
  • Genetics & Heredity
 

Citation

APA
Chicago
ICMJE
MLA
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Kemper, A. R., Brosco, J., Comeau, A. M., Green, N. S., Grosse, S. D., Jones, E., … Tanksley, S. (2017). Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 19(1), 121–126. https://doi.org/10.1038/gim.2016.68
Kemper, Alex R., Jeffrey Brosco, Anne Marie Comeau, Nancy S. Green, Scott D. Grosse, Elizabeth Jones, Jennifer M. Kwon, et al. “Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.Genetics in Medicine : Official Journal of the American College of Medical Genetics 19, no. 1 (January 2017): 121–26. https://doi.org/10.1038/gim.2016.68.
Kemper AR, Brosco J, Comeau AM, Green NS, Grosse SD, Jones E, et al. Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. Genetics in medicine : official journal of the American College of Medical Genetics. 2017 Jan;19(1):121–6.
Kemper, Alex R., et al. “Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.Genetics in Medicine : Official Journal of the American College of Medical Genetics, vol. 19, no. 1, Jan. 2017, pp. 121–26. Epmc, doi:10.1038/gim.2016.68.
Kemper AR, Brosco J, Comeau AM, Green NS, Grosse SD, Jones E, Kwon JM, Lam WKK, Ojodu J, Prosser LA, Tanksley S. Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. Genetics in medicine : official journal of the American College of Medical Genetics. 2017 Jan;19(1):121–126.

Published In

Genetics in medicine : official journal of the American College of Medical Genetics

DOI

EISSN

1530-0366

ISSN

1098-3600

Publication Date

January 2017

Volume

19

Issue

1

Start / End Page

121 / 126

Related Subject Headings

  • United States Dept. of Health and Human Services
  • United States
  • Phenotype
  • New York
  • Neonatal Screening
  • Mutation
  • Male
  • Infant, Newborn
  • Humans
  • Genetics & Heredity