An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders

Abstract

by Wendy K. Chung,Stephen M. Kanne andZhanzhi Hu
Int. J. Neonatal Screen. 2024, 10(2), 33; https://doi.org/10.3390/ijns10020033 - 16 june 2024
Cited by 2 | Viewed by 1448
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. Full article
(This article belongs to the Special Issue A Lifespan Approach to Health and Well-Being Leveraging Neonatal Screening: Efforts in Advocacy, Academia, Research, and Clinical Care)