O22: GUARDIAN expanded newborn screening study: Early experiences
The GUARDIAN (Genomic Uniform-screening Against Rare Disease in All Newborns) study seeks to support equitable diagnosis and treatment as well as evaluate the implementation and impact of expanded genomic newborn screening (NBS). Incorporating parental feedback and adjusting procedures are essential to NBS program development to improve communication among providers, access to care, and utility to families.
Authors
- Médéric Jeanne (ORCID: https://orcid.org/0000-0003-1136-8890)
- Wendy K. Chung (ORCID: https://orcid.org/0000-0003-3438-5685)
- Rebecca Hernan (ORCID: https://orcid.org/0000-0002-9668-7729)
- Carrie Koval‐Burt
- Mehmet Buğrahan Düz (ORCID: https://orcid.org/0000-0003-2140-5456)
- Brenna Boyd
- Yeyson Quevedo
- Winnie Chen
- Jamie Galarza-Cornejo (ORCID: https://orcid.org/0000-0003-4007-1009)
- Guanjun Jin
- Candace Cameron
Institutions
- Boston Children's Hospital (US)
- Harvard University (US)
- Columbia University Irving Medical Center (US)
- Boston Children's Museum (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102098
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00