Genetic Carrier Screening in the Twenty-first Century

Abstract

Historically, carrier screening for a small number of autosomal recessive disorders has been offered to targeted populations based on ethnicity and family history. These chosen disorders are associated with severe morbidity or mortality, have a well-established carrier frequency in the targeted population, and have an acceptably high detection rate to make screening efficient. With advancing genetic technology, expanded panels rapidly are being designed and offered to the panethnic general population. This article reviews current recommendations for ethnicity-specific carrier screening for common disorders as well as the limitations and counseling complexities associated with expanded panels.

Keywords: Ashkenazi Jewish; Carrier screening; Cystic fibrosis; Spinal muscular atrophy; Tay-Sachs disease.