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.
Authors
- Urh Grošelj (ORCID: https://orcid.org/0000-0002-5246-9869)
Institutions
- University of Ljubljana (SI)
- Ljubljana University Medical Centre (SI)
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