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- Title
An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders.
- Authors
Chung, Wendy K.; Kanne, Stephen M.; Hu, Zhanzhi
- Abstract
Screening newborns using genome sequencing is being explored due to its potential to expand the list of conditions that can be screened. Previously, we proposed the need for large-scale pilot studies to assess the feasibility of screening highly penetrant genetic neurodevelopmental disorders. Here, we discuss the initial experience from the GUARDIAN study and the systemic gaps in clinical services that were identified in the early stages of the pilot study.
- Subjects
NEWBORN screening; CHILD psychopathology; GENOMICS; EARLY medical intervention; RARE diseases; GENETIC testing; SEQUENCE analysis; SPINAL muscular atrophy
- Publication
International Journal of Neonatal Screening (IJNS), 2024, Vol 10, Issue 2, p33
- ISSN
2409-515X
- Publication type
Article
- DOI
10.3390/ijns10020033