Carrier screening program for pathogenic variants among Ashkenazi Jewish women in Israel: An observational study.

PURPOSE

The aim of the study was to evaluate the results of a large-scale carrier screening program among Ashkenazi Jewish (AJ) women.

METHODS

We performed a cross-sectional study of women who were eligible for screening program. Women who self-reported as complete or partial AJ were screened for 14 pathogenic variants in genes, following the Israeli Ministry of Health's national screening program.

RESULTS

The study included 13,502 women who underwent screening between June 2020 and June 2022. The prevalence of the pathogenic variants in was 0.89% (120 of 13,502) among the tested women. Of the 14 variants tested, only 6 variants were detected. Three variants, known as the founder variants among AJ, accounted for 96.6% of identified variants (NM_000059.4():c.5946del, p.(Ser1982fs); NM_007294.4():c.68_69del, p.(Glu23fs); NM_007294.4():c.5266dup, p.(Gln1756fs)). The tested women were younger and of a higher socioeconomic status compared with the eligible non-tested women.

CONCLUSION

The study provides a new insight into a large carrier screening program for pathogenic variants in AJ women in Israel. These findings present real-world prevalence of women who are heterozygous for pathogenic variants in AJ population and the importance of such programs.