20.500.12556/DiRROS-28404 Newborn screening for rare diseases expanding the paradigm in the genomic era 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. newborn screenin NBS genomic NBS rare diseases public health personalized medicine rare diseases true false true Angleški jezik Ni določen Neznano 2026-03-18 13:31:06 2026-03-18 13:31:06 2026-03-24 04:00:22 0000-00-00 00:00:00 2026 0 0 Nasl. z nasl. zaslona; Opis vira z dne 29. 9. 2025; str. 116-122 issue 1 Vol. 54 2026 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616-053.2 1619-3997 10.1515/jpm-2025-0363 250783235 RAZ_Groselj_Urh_2026.pdf RAZ_Groselj_Urh_2026.pdf 1 2B8B47083368DDABDFA1361DC54309A7 3baeee610d3a801f7d8265ecd083d8f18c1b512ed02918bc1da5816598d70f1a 8a557b29-22c6-11f1-a33f-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=42008 https://www.degruyterbrill.com/document/doi/10.1515/jpm-2025-0363/html 0 9db830fd-22c6-11f1-a33f-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=42009 Univerzitetni klinični center Ljubljana 0 0 0