Eprint already available on another site (E-prints, working papers and research blog)
Data-driven prioritization of genetic disorders for global genomic newborn screening programs.
Minten, Thomas; Gold, Nina B; Bick, Sarah et al.
2024
 

Files


Full Text
2024.03.24.24304797v3.full.pdf
Author postprint (4.94 MB)
Download

All documents in ORBi are protected by a user license.

Send to



Details



Abstract :
[en] Genomic sequencing is poised to expand newborn screening for treatable childhood-onset disorders. Over 30 international research studies and companies are exploring its use, collectively aiming to screen more than 500,000 infants. A key challenge is determining which genes to include in screening. Among 27 newborn sequencing programs, the number of genes analyzed ranged from 134 to 4,299, with only 74 genes included by over 80% of programs. To understand this variability, we assembled a dataset with 25 characteristics of 4,389 genes included in any program and used a multivariate regression analysis to identify characteristics associated with inclusion across programs. These characteristics included presence on the US Recommended Uniform Screening panel, evidence regarding the natural history of disease, and efficacy of treatment. We then used a machine learning model to generate a ranked list of genes, offering a data-driven approach to the future prioritization of disorders for public health newborn screening efforts.
Disciplines :
Pediatrics
Author, co-author :
Minten, Thomas ;  Université de Liège - ULiège > Département des sciences cliniques
Gold, Nina B
Bick, Sarah
Adelson, Sophia
Gehlenborg, Nils
Amendola, Laura M
Boemer, François  ;  Université de Liège - ULiège > Département de pharmacie > Chimie médicale
Coffey, Alison J
Encina, Nicolas
Ferlini, Alessandra
Kirschner, Janbernd
Russell, Bianca E
Servais, Laurent ;  Université de Liège - ULiège > Département des sciences cliniques
Sund, Kristen L
Taft, Ryan J
Tsipouras, Petros
Zouk, Hana
ICoNS Gene List Contributors
Bick, David
Green, Robert C
International Consortium on Newborn Sequencing (ICoNS)
More authors (11 more) Less
Language :
English
Title :
Data-driven prioritization of genetic disorders for global genomic newborn screening programs.
Publication date :
16 September 2024
Available on ORBi :
since 09 December 2024

Statistics


Number of views
60 (5 by ULiège)
Number of downloads
28 (0 by ULiège)

OpenCitations
 
0
OpenAlex citations
 
11

Bibliography


Similar publications



Contact ORBi