A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities
Genomic NBS using WES from DBSs was technically feasible and allowed early identification of actionable genetic conditions. Integration of genomic methods into NBS, although ethical, logistical, and clinical challenges remain, is a logical step but requires adequate genetic counseling and long-term follow-up.
Authors
- Caterina Parlato (ORCID: https://orcid.org/0000-0001-5304-3117)
- Elisa Biamino
- Giulia Zucchetti (ORCID: https://orcid.org/0000-0003-1437-3572)
- Saverio Minucci (ORCID: https://orcid.org/0000-0001-5678-536X)
- Alessandra Coscia (ORCID: https://orcid.org/0000-0001-5094-1077)
- Simonetta Guarrera (ORCID: https://orcid.org/0000-0003-4400-1817)
- Francesco Porta (ORCID: https://orcid.org/0000-0003-3899-4867)
- Diana Carli (ORCID: https://orcid.org/0000-0001-5690-6504)
- Paola Quarello (ORCID: https://orcid.org/0000-0002-1940-7375)
- Franca Fagioli (ORCID: https://orcid.org/0000-0002-9257-900X)
- Celeste Cagnazzo (ORCID: https://orcid.org/0000-0003-4055-3139)
- Caterina Carbonara
- Marco Spada (ORCID: https://orcid.org/0000-0002-8894-350X)
- Camilla Francesca Proto (ORCID: https://orcid.org/0009-0001-2053-9519)
- Alessandro Mussa
- Beatrice Fenoglio
- Rebecca Gianasso
Institutions
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- Italian institute for Genomic Medicine (IT)
- Ospedale Regina Margherita (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Department of Public Health (US)
- University of Turin (IT)
Publication Details
- Journal
- JAMA Network Open
- Published
- 2025-10-17
- DOI
- https://doi.org/10.1001/jamanetworkopen.2025.38198
- Citations
- 4
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 7.27
Funders
- Compagnia di San Paolo