Newborn screening for rare diseases: expanding the paradigm in the genomic era

Rapidly evolving genomic tools will reshape NBS, demanding agile policies, secure data infrastructures, and careful attention to consent, privacy, and equity. International collaboration and stakeholder engagement will be essential to ensure these technologies are implemented ethically and effectively, balancing public health priorities with individualized care.

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Institutions

Publication Details

Journal
Journal of Perinatal Medicine
Published
2025-09-26
DOI
https://doi.org/10.1515/jpm-2025-0363
Citations
1
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
1.82
Controls
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article

Newborn screening for rare diseases: expanding the paradigm in the genomic era

Urh Grošelj
1 citations
Journal of Perinatal Medicine
Genomics and Rare Diseases
1.82
article

Newborn screening for rare diseases: expanding the paradigm in the genomic era

Urh Grošelj
article en
1 citations

Abstract

Rapidly evolving genomic tools will reshape NBS, demanding agile policies, secure data infrastructures, and careful attention to consent, privacy, and equity. International collaboration and stakeholder engagement will be essential to ensure these technologies are implemented ethically and effectively, balancing public health priorities with individualized care.

Journal of Perinatal MedicineVol. 54(1)
University of Ljubljana (SI), Ljubljana University Medical Centre (SI)
Openalex Percentile: Top 12%
Genomics and Rare Diseases
1.82
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