Beyond the "Jewish panel": the importance of offering expanded carrier screening to the Ashkenazi Jewish population.

ABSTRACT:

Objective

To assess whether or not the current American College of Obstetricians and Gynecologists (ACOG) recommendations regarding carrier screening are sufficiently robust in detecting mutations in the Ashkenazi Jewish (AJ) population.

Design

Cross-sectional study.

Setting

Outreach program at university community center.

Patients

Self-identified Jewish students, 18-24 years of age, interested in genetic carrier testing.

Interventions

Expanded carrier screening (ECS) with the use of a commercially available targeted genotyping panel including >700 mutations in 180 genes.

Main outcome measures

Gene mutations found in this population were grouped into three categories based on ACOG's 2017 committee opinion regarding carrier screening: category 1: t

SUBMITTER: Dolitsky S 

PROVIDER: S-EPMC8244264 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature