Carrier screening: An update

•This study provides a comprehensive review of the literatures for carrier screening (CS) currently available.•Carrier frequency (CF) and at-risk couples (ARCs) rate for genes vary between population, which warrant data-driven evaluation for panel design.•The severity of condition is a key factor for disorders inclusion criteria.•CS panel must have clinical validity at the level of gene‐disease association. Variant classification is still a major challenge for CS.•The residual risks (RR) to be a carrier of a specific condition is not always quantifiable because unprecise CF and detection rate (DR).