Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation
Open accessAbstract
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accuracy of screening from New York, the only state that currently offers X-ALD newborn screening, and published and unpublished data showing health benefits of earlier treatment (hematopoietic stem cell transplantation and adrenal hormone replacement therapy) for the childhood cerebral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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The early detection of the characteristic biochemical abnormalities associated with ALD and AMN has proven to be reliable to detect affected subjects but also poses new clinical ethical issues.
“The early detection of the characteristic biochemical abnormalities associated with ALD and AMN has proven to be reliable to detect affected subjects but also poses new clinical ethical issues (52).”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [52]
The Conclusions (page unavailable) say New York data suggest X-ALD can be reliably identified through newborn screening, and the Potential harms section describes concerns about unwanted carrier information, anxiety, false positives, and overdiagnosis. The paper does not say biochemical screening can identify who will develop AMN; it notes poor prediction of disease course. Thus the claim overstates both the certainty of detection and its specificity for AMN. (LLM, conf=0.84)
Experimental — accuracy not yet measuredFrom that time onward, some countries have implemented their neonatal screening program with ALD screening.
“From that time onward, some countries have implemented their neonatal screening program with ALD screening (52).”
From X-linked adrenoleukodystrophy and primary adrenal insufficiency (2023) · cites this paper as [52]
The Newborn screening program implementation section reports that New York was screening newborns for X-ALD. It does not establish that multiple countries had implemented ALD screening; the other jurisdictions it names are US states that had not yet begun screening. No page number is available in our copy. (LLM, conf=0.87)
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- Authors
- Kemper, A. R., Brosco, J., Comeau, A. M., Green, N. S., Grosse, S. D., Jones, E., Kwon, J. M., Lam, W. K. K., Ojodu, J., Prosser, L. A., & Tanksley, S.
- Affiliations
- Duke University (US)
- University of Miami (US)
- University of Massachusetts Chan Medical School (US)
- Columbia University Irving Medical Center (US)
- Centers for Disease Control and Prevention (US)
- Association of Public Health Laboratories (US)
- University of Rochester Medicine (US)
- University of Michigan (US)
- Texas Department of State Health Services (US)
- Corresponding author
- Kemper, Alex R.
- ORCID
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2017-01
- Volume
- 19
- Issue
- 1
- Pages
- 121-126
- ISSN
- 1098-3600 (ISSN-L)
- PMC
- PMC5182180
- OpenAlex
- W2466367464
- Cited by
- 109
- References
- 34
- Citations by year
- 2026: 11 · 2025: 12 · 2024: 7 · 2023: 11 · 2022: 10 · 2021: 15 · 2020: 12 · 2019: 12 · 2018: 13 · 2017: 5 · 2016: 1
- FWCI
- 10.10
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- The Journal of the American Medical Association (JAMA) Network (American Medical Association) (submittedVersion)
- Funders
- U.S. Department of Health and Human Services
- Association of Public Health Laboratories
- National Institutes of Health (CC999999)
- Centers for Disease Control and Prevention
- Health Resources and Services Administration (HHSH250201400007C)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- X-linked adrenoleukodystrophy, newborn screening, screening accuracy, childhood cerebral adrenoleukodystrophy, hematopoietic stem cell transplantation, genotype-phenotype correlation, New York
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Female, Humans, Infant, Newborn, Male, Mutation, New York, Phenotype, United States, United States Dept. of Health and Human Services, Neonatal Screening, Advisory Committees
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