GUARDIAN: Genomic Uniform screening Against Rare Diseases In All Newborns

Genomic Uniform-screening Against Rare Disease in All Newborns (GUARDIAN) is a multi-site single arm prospective study. All newborns in the regular nursery in six New York City hospitals of English, Mandarin, or Spanish speaking parents were eligible. Dried blood spots collected at birth for routine newborn screening were used for genome sequencing. A total of 156 early-onset conditions (group 1) with established effective interventions were screened in all participants, and 99 neurodevelopmental disorders (group 2) were optional. 72.0% consented to participate. The majority consented for screening of both groups of conditions. Testing was successfully completed for 99.4% of cases. The screen positive rate was , with a positive predictive value of 78.0%, including treatable conditions that are not currently included in newborn screening. These findings provide evidence of the parental acceptance and feasibility of genome sequencing-based screening in a diverse newborn population and suggests that early identification of conditions not currently included in newborn screening may reduce healthcare disparities. Additional studies are required to assess barriers to implementation and cost-effectiveness.

演者	Dr. Wendy Chung Chair of Pediatrics, Boston Children’s Hospital, Harvard Medical School
座長	大石 公彦 先生 東京慈恵会医科大学