Ethnicity-Based Carrier Screening

Ethnicity-based carrier screening for single-gene disorders is an integral part of preconception and prenatal care. The role of ethnicity-based carrier screening has expanded over time with advancing technology. Patients and providers should understand the benefits and limitations of their screening options and engage in appropriate pretest and posttest counseling. The future management of single-gene disorders is changing, and a time may be approaching when ethnicity-based carrier screening will be replaced with expanded carrier screening.