An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.
J Pediatr
; 209: 68-76, 2019 06.
Article
em En
| MEDLINE
| ID: mdl-30851990
ABSTRACT
OBJECTIVE:
To assess the performance of a standardized, age-based metric for scoring clinical actionability to evaluate conditions for inclusion in newborn screening and compare it with the results from other contemporary methods. STUDYDESIGN:
The North Carolina Newborn Exome Sequencing for Universal Screening study developed an age-based, semiquantitative metric to assess the clinical actionability of gene-disease pairs and classify them with respect to age of onset or timing of interventions. This categorization was compared with the gold standard Recommended Uniform Screening Panel and other methods to evaluate gene-disease pairs for newborn genomic sequencing.RESULTS:
We assessed 822 gene-disease pairs, enriched for pediatric onset of disease and suspected actionability. Of these, 466 were classified as having childhood onset and high actionability, analogous to conditions selected for the Recommended Uniform Screening Panel core panel. Another 245 were classified as having childhood onset and low to no actionability, 25 were classified as having adult onset and high actionability, 19 were classified as having adult onset and low to no actionability, and 67 were excluded due to controversial evidence and/or prenatal onset.CONCLUSIONS:
This study describes a novel method to facilitate decisions about the potential use of genomic sequencing for newborn screening. These categories may assist parents and physicians in making informed decisions about the disclosure of results from voluntary genomic sequencing in children.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
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Mapeamento Cromossômico
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Triagem Neonatal
/
Análise de Sequência de DNA
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Doenças Genéticas Inatas
Tipo de estudo:
Diagnostic_studies
/
Evaluation_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Female
/
Humans
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Male
/
Newborn
País/Região como assunto:
America do norte
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article