Implications and ramifications of using the CDC tier 1 genetic screening concept in East Asian populations

The US Centers for Disease Control and Prevention defined the Centers for Disease Control and Prevention Tier 1 (CDCT1) genomics applications, advocating mass screening for 3 hereditary conditions with significant public health impacts. On this premise, we investigated how genome sequencing (GS) and ethnic differences affect genetic screening in East Asia. Additionally, we incorporated 2 specific genes, NOTCH3 (HGNC:7883) and GJB2 (HGNC: 4284), linked to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (MIM: 125310) and hereditary hearing loss (MIM: 220290), respectively, into the study design.