AB034. Carrier frequency of inherited genetic disorders in Thai population: implication for designing expanded carrier screening panel

摘要

BackgroundExpanded carrier screening (ECS) is the process of screening individuals for hundreds of autosomal recessive (AR) and X-linked recessive (XLR) diseases. ECS result is beneficial for couples who want to make an informed reproductive choice. Though next-generation sequencing allows thousands of genes to be sequenced at once, the ideal ECS gene panel should only include diseases that its carriers are common in the population (1% or higher), and the prenatal diagnosis of the disease is allowed. However, designing the ECS panel for Thais can be difficult because the carrier frequency for most genetic diseases is unknown. Therefore, we retrospectively review our exome sequencing data from Thai patient to get an estimation of the carrier frequency.