| Title: | Newborn screening for rare diseases : expanding the paradigm in the genomic era |
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| Authors: | ID Grošelj, Urh (Author) |
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| Files: |  PDF - Presentation file, download (254,89 KB)
MD5: 2B8B47083368DDABDFA1361DC54309A7
 URL - Source URL, visit https://www.degruyterbrill.com/document/doi/10.1515/jpm-2025-0363/html
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| Language: | English |
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| Typology: | 1.02 - Review Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Abstract: | Background: Newborn screening (NBS) has long been a cornerstone of public health, initially designed to detect a few congenital disorders such as phenylketonuria and congenital hypothyroidism. This early intervention prevents irreversible health consequences. With the advent of genomic technologies, NBS programs are expanding to include a broader range of rare diseases (RDs), offering new opportunities and challenges in clinical implementation, ethics, and health system readiness. Content: This mini-review traces the evolution of NBS from biochemical assays to next-generation sequencing (NGS) and whole-exome sequencing (WES). It highlights complexities in integrating RDs into NBS panels, including condition selection, test validation, confirmatory pipelines, and the need for robust follow-up. Ethical tensions between public health goals – focused on population benefit – and the personalized medicine paradigm are discussed, along with the importance of international harmonization to ensure equitable access. Summary: Expanding NBS to include RDs can transform early diagnosis, reduce diagnostic delays, and enable timely interventions that improve outcomes. Successful genomic NBS (gNBS) integration requires clear, evidence-based inclusion criteria, validated diagnostics, and sustainable follow-up systems. Outlook: 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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| Keywords: | newborn screenin, NBS, genomic NBS, rare diseases, public health, personalized medicine, rare diseases |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2026 |
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| Number of pages: | str. 116-122 |
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| Numbering: | Vol. 54, issue 1 |
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| PID: | 20.500.12556/DiRROS-28404  |
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| UDC: | 616-053.2 |
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| ISSN on article: | 1619-3997 |
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| DOI: | 10.1515/jpm-2025-0363 |
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| COBISS.SI-ID: | 250783235 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 29. 9. 2025;
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| Publication date in DiRROS: | 18.03.2026 |
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| Views: | 61 |
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| Downloads: | 38 |
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