Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening.

ABSTRACT:

Background

Current professional society guidelines recommend genetic carrier screening be offered on the basis of ethnicity, or when using expanded carrier screening panels, they recommend to compute residual risk based on ethnicity. We investigated the reliability of self-reported ethnicity in 9138 subjects referred to carrier screening. Self-reported ethnicity gathered from test requisition forms and during post-test genetic counseling, and genetic ancestry predicted by a statistical model, were compared for concordance.

Results

We identified several discrepancies between the two sources of self-reported ethnicity and genetic ancestry. Only 30.3% of individuals who indicated Mediterranean ancestry during consultation self-reported this on requisition forms. Additionally, t

SUBMITTER: Shraga R 

PROVIDER: S-EPMC5704547 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature