Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: Proactive recruitment compared with self-referral

Sari Lieberman, Ariela Tomer, Avi Ben-Chetrit, Oded Olsha, Shalom Strano, Rachel Beeri, Sivan Koka, Hila Fridman, Karen Djemal, Itzhak Glick, Todd Zalut, Shlomo Segev, Miri Sklair, Bella Kaufman, Amnon Lahad, Aviad Raz, Ephrat Levy-Lahad

Research output: Contribution to journalArticlepeer-review

48 Scopus citations


Purpose:Population screening of three common BRCA1/BRCA2 mutations in Ashkenazi Jews (AJ) apparently fulfills screening criteria. We compared streamlined BRCA screening via self-referral with proactive recruitment in medical settings.Methods:Unaffected AJ, age ≥25 years without known familial mutations, were either self-referred or recruiter-enrolled. Before testing, participants received written information and self-reported family history (FH). After testing, both non-carriers with significant FH and carriers received in-person genetic counseling. Psychosocial questionnaires were self-Administered 1 week and 6 months after enrollment.Results:Of 1,771 participants, 58% were recruiter-enrolled and 42% were self-referred. Screening uptake was 67%. Recruited enrollees were older (mean age 54 vs. 48, P < 0.001) and had less suggestive FH (23 vs. 33%, P < 0.001). Of 32 (1.8%) carriers identified, 40% had no significant FH. Post-Test counseling compliance was 100% for carriers and 89% for non-carrier women with FH. All groups expressed high satisfaction (>90%). At 6 months, carriers had significantly increased distress and anxiety, greater knowledge, and similar satisfaction; 90% of participants would recommend general AJ BRCA screening.Conclusion:Streamlined BRCA screening results in high uptake, very high satisfaction, and no excess psychosocial harm. Proactive recruitment captured older women less selected for FH. Further research is necessary to target younger women and assess other populations.Genet Med advance online publication 08 December 2016.

Original languageEnglish
Pages (from-to)754-762
Number of pages9
JournalGenetics in Medicine
Issue number7
StatePublished - 1 Jul 2017


  • Ashkenazi Jewish
  • BRCA1
  • BRCA2
  • hereditary breast and ovarian cancer
  • population screening

ASJC Scopus subject areas

  • Genetics(clinical)


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