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Abstract

Newborn screening has revolutionized pediatric healthcare by enabling the early detection and intervention of rare genetic disorders, ultimately improving outcomes and quality of life. Recent advancements in genomics have paved the way for the integration of comprehensive genome sequencing (CGS) into newborn screening programs, offering unprecedented insights into an infant’s genetic makeup. This abstract highlights the emerging field of CGS in newborn screening and its associated challenges in terminology standardization. Incorporating CGS into newborn screening brings forth a vast landscape of genetic information, necessitating standardized terminology to ensure effective communication among healthcare professionals, researchers, and families. The Terminology Matrix, a novel approach presented in this study, aims to address this challenge by providing a comprehensive framework for organizing and classifying genetic variants detected during CGS. By categorizing variants into well-defined terms and utilizing a userfriendly interface, the Terminology Matrix streamlines the interpretation of CGS results, facilitating prompt clinical decision-making.