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An Evaluation of Variants Associated with 176 Conditions Identified through Exome Sequencing in an Armenian Sample

  • Author(s): Akopyan, Aida
  • Advisor(s): Moyzis, Robert K
  • et al.
Abstract

This study aims to shed light on genetic variation among Armenians, an understudied population. Given the increasing uptake of genetic testing in various settings, the lack of published research poses a significant barrier to providing precise and thorough genetic counseling to Armenian individuals. By analyzing exome sequence from 44 Armenian individuals for 176 genes related to conditions commonly tested for in expanded carrier screening, expanded carrier screening positive rates (ECS-PRs) were calculated for individuals in this study. Fifty-two percent of individuals in this cohort were found to be a carrier of a pathogenic variant for at least one recessive condition. A total of seven out of 44 individuals were found to be carriers for familial Mediterranean fever; however, when FMF was excluded from ECS-PR calculation, the percentage of individuals who were found to be a carrier of a pathogenic variant for at least one recessive condition only decreased by 4%, yielding an ECS-PR of 48%. There were also two individuals with the same CFTR pathogenic variant, four individuals with four distinct PAH variants, and two individuals with two distinct PMM2 variants. This study provides data to a recommendation of expanded carrier screening in Armenian individuals as compared to targeted testing for FMF only. Results of this study will improve genetic counseling provided to Armenian individuals, particularly in prenatal and pre-conceptional settings, and promote diversity and equity in the field of genetics to improve the overall quality of services for providers and patients alike.

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