Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency

@article{VallejoTorres2015CostEffectivenessAO,
  title={Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency},
  author={Laura Vallejo-Torres and Iv{\'a}n Castilla and Mar{\'i}a Luz Couce and Celia P{\'e}rez-Cerd{\'a} and Elena Mart{\'i}n‐Hern{\'a}ndez and M Pineda and Jaume Campistol and Arantzazu Arrospide and Stephen Morris and Pedro Serrano-Aguilar},
  journal={Pediatrics},
  year={2015},
  volume={136},
  pages={e424 - e432}
}
BACKGROUND AND OBJECTIVES: There are conflicting views as to whether testing for biotinidase deficiency (BD) ought to be incorporated into universal newborn screening (NBS) programs. The aim of this study was to evaluate the cost-effectiveness of adding BD to the panel of conditions currently screened under the national NBS program in Spain. METHODS: We used information from the regional NBS program for BD that has been in place in the Spanish region of Galicia since 1987. These data, along… 
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These guidelines were developed to define and standardize laboratory procedures for enzymatic biotinidase testing, to delineate situations for which follow-up molecular testing is warranted, and to characterize variables that can influence test performance and interpretation of results.
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References

SHOWING 1-10 OF 75 REFERENCES
Comprehensive Cost-Utility Analysis of Newborn Screening Strategies
TLDR
The results found in the base-case analysis were stable across variations in nearly all variables, and over the long term, funding comprehensive newborn screening programs is likely to save money for society.
Screening for biotinidase deficiency in Austria
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening
TLDR
There was no significant difference in social adaptation or behavioural problems between symptomatic and asymptomatic children, and children with PBD established presymptomatically following newborn screening and treated with biotin supplementation, do not experience these effects.
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn
TLDR
The variant allele(s) for biotinidase deficiency was more common in French Canadians than in other ethnic groups in Quebec; there was no evidence of regional clustering or founder effect.
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population
TLDR
The results demonstrate that the frequencies of two of the most common biotinidase variant alleles are higher in the Hungarian population than in other Caucasian populations and this and the presence of a unique Hungarian mutation may explain the high incidence of biotininidase deficiency in Hungary.
The magnitude and challenge of false-positive newborn screening test results.
TLDR
The magnitude of false-positive results generated in newborn screening programs, particularly for congenital endocrinopathies, presents a great challenge for future improvement of this important public health program.
Evaluation of population newborn screening practices for rare disorders in member states of the European Union
As a result of a tender launched by the European Commission, an activity has started with the aims of identifying and evaluating all aspects deemed relevant to the implementation of a public health…
High incidence of partial biotinidase deficiency cases in newborns of Greek origin.
Worldwide survey of neonatal screening for biotinidase deficiency
  • B. Wolf
  • Medicine, Biology
    Journal of Inherited Metabolic Disease
  • 2005
TLDR
Neonatal screening for biotinidase deficiency has been conducted in 14 countries since 1984 and an estimated 1 in 123 individuals is heterozygous for the disorder.
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria
TLDR
Subdivision of the group of patients with profound biotinidase deficiency suggests that only patients with residual activities <1% are prone to develop clinical symptoms early in life, while patients with remnant activities >1% may remain asymptomatic even without treatment, as do patients with partial deficiency.
...
1
2
3
4
5
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