Implications and Ramifications of Using the CDC Tier 1 Genetic Screening Concept in East Asian Populations

The US Center for Disease Control and Prevention defined the CDC Tier 1 (CDCT1) genomics applications, advocating mass screening for three hereditary conditions with significant public health impacts. On this premise, we investigate how genome sequencing (GS) and ethnic differences affect genetic screening in East Asia. Additionally, we have incorporated two specific genes, NOTCH3 (HGNC:7883) and GJB2 (HGNC: 4284), linked to CADASIL (MIM: 125310) and hereditary hearing loss (HHL) (MIM: 220290), respectively, into a study design.