Experience with Expanded Carrier Screening Assay

Genetic carrier screening is a method to help couples discover whether they are at risk of passing on serious genetic disorders to their children. When carried out before conception or early in pregnancy, carrier screening provides prospective parents with the information they need to make informed reproductive decisions that lead to the best possible outcomes for their families. Until recently, however, carrier screening has been restricted to a limited number of single-gene tests offered mainly to higher-risk individuals or populations based on race, ethnicity, or ancestry. With genetic analysis tools, such as Next Generation Sequencing and Microarray technology, hundreds of disorders can be screened at once using a single sample, allowing more comprehensive and universal carrier screening referred to as expanded carrier screening (ECS). Here, I will discuss the advantages and  implementation of pan-ethnic expanded carrier screening in a commercial laboratory in Malaysia.