A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening

Carrier screening involves detection of carrier status for genes associated with recessive conditions. A negative carrier screening test result bears a nonzero residual risk (RR) for the individual to have an affected child. The RR depends on the prevalence of specific conditions and the detection rate (DR) of the test itself. Herein, we provide a detailed approach for calculating DR and RR. DR was calculated on the basis of the sum of disease allele frequencies (DAFs) of pathogenic variants found in published literature.

Source: Journal of Molecular Diagnostics - December 18, 2020 Category: Pathology Authors: Marco L. Leung, Sallie McAdoo, Deborah Watson, Kallyn Stumm, Margaret Harr, Xiang Wang, Christine H. Chung, Fernanda Mafra, Addie I. Nesbitt, Hakon Hakonarson, Avni Santani Tags: Regular article Source Type: research