Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.

ABSTRACT:

Purpose

Carrier screening identifies reproductive risk for autosomal recessive and X-linked genetic conditions. Currently, some medical society guidelines continue to recommend ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish (AJ) ancestry. We assessed the utility and limitations of these guidelines in a large, ethnically and genetically diverse cohort of genotyped individuals.

Methods

We characterized the self-reported ethnicity and genetic ancestry of over 110,000 consenting research participants identified as heterozygous for pathogenic variants associated with 15 autosomal recessive conditions recommended by the American College of Obstetricians and Gynecologists for screening in individuals of AJ descent.

Results

Out of 7.2 millio

SUBMITTER: Llorin H 

PROVIDER: S-EPMC11613755 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature