MARC details
| 000 -LEADER |
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| fixed length control field |
03203nam a22003377a 4500 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
220926s20222022 xxu||||| |||| 00| 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER |
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| International Standard Serial Number |
1664-8021 |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
10.3389/fgene.2022.867337 [doi] |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
867337 [pii] |
| 024 ## - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
PMC9354846 [pmc] |
| 040 ## - CATALOGING SOURCE |
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| Original cataloging agency |
Ovid MEDLINE(R) |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) |
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| PMID |
35938011 |
| 245 ## - TITLE STATEMENT |
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| Title |
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). |
| 251 ## - Source |
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| Source |
Frontiers in Genetics. 13:867337, 2022. |
| 252 ## - Abbreviated Source |
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| Abbreviated source |
Front. genet.. 13:867337, 2022. |
| 253 ## - Journal Name |
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| Journal name |
Frontiers in genetics |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Year |
2022 |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
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| Manufacturer |
FY2023 |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] |
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| Publication status |
epublish |
| 265 ## - SOURCE FOR ACQUISITION/SUBSCRIPTION ADDRESS [OBSOLETE] |
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| Medline status |
PubMed-not-MEDLINE |
| 266 ## - Date added to catalog |
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| Date added to catalog |
2022-09-26 |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
Each year, through population-based newborn screening (NBS), 1 in 294 newborns is identified with a condition leading to early treatment and, in some cases, life-saving interventions. Rapid advancements in genomic technologies to screen, diagnose, and treat newborns promise to significantly expand the number of diseases and individuals impacted by NBS. However, expansion of NBS occurs slowly in the United States (US) and almost always occurs condition by condition and state by state with the goal of screening for all conditions on a federally recommended uniform panel. The Newborn Screening Translational Research Network (NBSTRN) conducted the NBS Expansion Study to describe current practices, identify expansion challenges, outline areas for improvement in NBS, and suggest how models could be used to evaluate changes and improvements. The NBS Expansion Study included a workshop of experts, a survey of clinicians, an analysis of data from online repositories of state NBS programs, reports and publications of completed pilots, federal committee reports, and proceedings, and the development of models to address the study findings. This manuscript (Part One) reports on the design, execution, and results of the NBS Expansion Study. The Study found that the capacity to expand NBS is variable across the US and that nationwide adoption of a new condition averages 9.5 years. Four factors that delay and/or complicate NBS expansion were identified. A companion paper (Part Two) presents a use case for each of the four factors and highlights how modeling could address these challenges to NBS expansion. Copyright © 2022 Brower, Chan, Williams, Berry, Currier, Rinaldo, Caggana, Gaviglio, Wilcox, Steiner, Holm, Taylor, Orsini, Brunelli, Adelberg, Bodamer, Viall, Scharfe, Wasserstein, Chen, Escolar, Goldenberg, Swoboda, Ficicioglu, Matern, Lee and Watson. |
| 546 ## - LANGUAGE NOTE |
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| Language note |
English |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
IN PROCESS -- NOT YET INDEXED |
| 651 ## - SUBJECT ADDED ENTRY--GEOGRAPHIC NAME |
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| Institution |
MedStar Heart & Vascular Institute, Virginia |
| 657 ## - INDEX TERM--FUNCTION |
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| Medline publication type |
Journal Article |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Local Authors |
Adelberg, Joanne |
| 790 ## - Authors |
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| All authors |
Adelberg J, Berry S, Bodamer O, Brower A, Brunelli L, Caggana M, Chan K, Chen JY, Currier R, Escolar M, Ficicioglu C, Gaviglio A, Goldenberg A, Holm IA, Lee R, Matern D, Orsini JJ, Rinaldo P, Scharfe C, Steiner R, Swoboda K, Taylor J, Viall S, Wasserstein M, Watson M, Wilcox W, Williams M |
| 856 ## - ELECTRONIC LOCATION AND ACCESS |
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| DOI |
<a href="https://dx.doi.org/10.3389/fgene.2022.867337">https://dx.doi.org/10.3389/fgene.2022.867337</a> |
| Public note |
https://dx.doi.org/10.3389/fgene.2022.867337 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Journal Article |
| Item type description |
Article |
