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Cited by 93Metabolism and Genetic DisordersGenomics and Rare DiseasesNeonatal Health and Biochemistry

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Watson, Michael S., Lloyd-Puryear, Michele A., Mann, Marie Y., Rinaldo, Piero, Howell, R. Rodney·2006·Genetics in Medicine
DOI 10.1097/01.gim.0000223467.60151.02PMC PMC3109899
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Registry

Crossref · 10.1097/01.gim.0000223467.60151.02

Cites

39 of 39 references verified0 citation errors · 0 not checkable

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  • An American College of Medical Genetics report on expanded newborn screening gives criteria that include test accuracy and cost, disease severity, highly penetrant recessive inheritance, and availability of an intervention.

    “Criteria included test accuracy and cost, disease severity, highly penetrant recessive inheritance, and whether an intervention was available for those identified.”

    From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [14]

    In “The screening test: availability and characteristics” (page unavailable), the report includes test sensitivity, specificity, and cost among its criteria. “Clinical characteristics of the condition” addresses disease burden, and “Diagnosis, follow-up, treatment, and management” addresses treatment availability. The cited criteria do not establish highly penetrant recessive inheritance as a requirement. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

  • Cost and the absence of accurate, sensitive, scalable technologies have been important barriers to extending preconception screening to most severe recessive mutations or to the general population.

    “Hitherto, important criteria precluding extension of preconception screening to most severe recessive mutations or the general population have been cost [defined in that report as an overall analytical cost requirement of <$1 per test per condition (14)] and the absence of accurate, sensitive, scalable technologies.”

    From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [14]

    In “The screening test: availability and characteristics” (page unavailable), the report values low-cost, high-throughput testing and sets a criterion of less than $1 per infant screened. It does not state an overall analytical cost requirement of less than $1 per test per condition; its criteria concern newborn screening, not preconception screening. (LLM, conf=0.87)

    Experimental — accuracy not yet measured

  • At high volume, the overall analytical cost of the hybrid enrichment-based test was $378, achieving <$1 per test per condition and approximating treatment cost per U.S. live birth.

    “At high volume, the overall analytical cost of the hybrid enrichment-based test was $378, achieving the requirement of <$1 per test per condition and approximating that expended on treatment of severe recessive childhood disorders per U.S. live birth (14, 29).”

    From Carrier testing for severe childhood recessive diseases by next-generation sequencing (2011) · cites this paper as [14]

    The screening-test criteria section specifies a cost criterion of less than $1 per infant screened, and the changing technological landscape section says multiplex testing can reduce cost per condition. Neither section establishes a less-than-$1-per-condition requirement or shows that a $378 hybrid enrichment-based test meets it. The copy also does not give the $378 figure or the claimed comparison with treatment expenditure per U.S. live birth. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

  • Some researchers reported a death rate of about 10% among infants with salt-wasting congenital adrenal hyperplasia in the absence of screening, but recent estimates from advanced economies are lower, at 0% to 4%.

    “Some researchers have reported a death rate of ;10% among infants with salt-wasting CAH in the absence of screening (55), but recent estimates from advanced economies are lower, at 0% to 4% (56).”

    From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [55]

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Cites

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Research works printed but not linked: 5

  1. [17]Weatherall DJ Clegg JB The thallasemia syndromes 4th ed Oxford Blackwell Science 2000
  2. [24]Ranieri E Lewis B Morris CP Neonatal screening using combined biochemical and DNA-based techniques Dodge JA Brock DJH Widdicomb JH Cystic Fibrosis: Current Topics Chichester, UK John Wiley & Sons 1996 181 206
  3. [25]Blau N Thony B Cotton RGH Hyland K Disorders of tetrahydrobiopterin and related biogenic amines Scriver CR The Metabolic and Molecular Bases of Inherited Disease 8 ed New York McGraw-Hill 2001 1725 1776
  4. [40]Larson CA Congenital Hypothyroidism Pediatric Endocrinology: A Practical Clinical Guide Radovick S MacGillivray MH Totowa, NJ Humana Press 2003 275 290
  5. [52]Keren R Helfand M Homer C McPhillips H Lieu TA Projected cost-effectiveness of statewide universal newborn hearing screening Pediatrics 2002 110 855 864 12415021

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Related

Authors
Watson, M. S., Lloyd-Puryear, M. A., Mann, M. Y., Rinaldo, P., & Howell, R. R.
ORCID
Venue
Genetics in Medicine
Publisher
Elsevier BV
Published
2006-05
Volume
8
Pages
S12-S252
ISSN
1098-3600 (ISSN-L)
DOI
10.1097/01.gim.0000223467.60151.02
PMC
PMC3109899
OpenAlex
W4233286180
Cited by
93
References
10
Citations by year
2026: 2 · 2025: 1 · 2024: 3 · 2023: 2 · 2022: 1 · 2021: 8 · 2020: 1 · 2019: 2 · 2018: 6 · 2017: 1 · 2016: 4 · 2015: 7 · 2014: 9 · 2013: 3 · 2012: 8
FWCI
3.03
Type
journal article
Language
en
Open access
Licence
Locations
  • Genetics in Medicine (publishedVersion)
  • PubMed Central (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Neonatal Health and Biochemistry
Keywords
newborn screening, tandem mass spectrometry, expert opinion, screening effectiveness, diagnostic services, treatment efficacy, inborn errors of metabolism, Maternal and Child Health Bureau, public health decision-making

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