title: Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.|Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Sari
authors.identifier: 0000-0003-1671-6444
authors.initials: S
authors.lastname: Lieberman
authors.affiliation: Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.|Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Ariela
authors.identifier: 0000-0003-1756-5801
authors.initials: A
authors.lastname: Tomer
authors.affiliation: Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.|Women's Health Center, Clalit Health Services, Jerusalem, Israel.
authors.forename: Avi
authors.initials: A
authors.lastname: Ben-Chetrit
authors.affiliation: Surgical Department, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Oded
authors.identifier: 0000-0002-8805-7794
authors.initials: O
authors.lastname: Olsha
authors.affiliation: The Comprehensive Breast Center, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Shalom
authors.initials: S
authors.lastname: Strano
authors.affiliation: Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Rachel
authors.initials: R
authors.lastname: Beeri
authors.affiliation: Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Sivan
authors.initials: S
authors.lastname: Koka
authors.affiliation: Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Hila
authors.initials: H
authors.lastname: Fridman
authors.affiliation: Terem Family Medical Center, Jerusalem, Israel.
authors.forename: Karen
authors.initials: K
authors.lastname: Djemal
authors.affiliation: Efrat Emergency Medical Center, Efrat, Israel.
authors.forename: Itzhak
authors.initials: I
authors.lastname: Glick
authors.affiliation: Terem Clinic, Modi'in, Israel.|Department of Emergency Medicine, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Todd
authors.initials: T
authors.lastname: Zalut
authors.affiliation: Institute of Medical Screening, Chaim Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: Shlomo
authors.identifier: 0000-0002-3374-4730
authors.initials: S
authors.lastname: Segev
authors.affiliation: Department of Radiology, Chaim Sheba Medical Center, Tel Hashomer, Israel.|Sackler Faculty of Mediciine, Tel Aviv University Tel Aviv, Israel.
authors.forename: Miri
authors.initials: M
authors.lastname: Sklair
authors.affiliation: Sackler Faculty of Mediciine, Tel Aviv University Tel Aviv, Israel.|Institute of Oncology, The Chaim Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: Bella
authors.initials: B
authors.lastname: Kaufman
authors.affiliation: Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.|Department of Family Medicine, Clalit Health Services, Jerusalem, Israel.
authors.forename: Amnon
authors.initials: A
authors.lastname: Lahad
authors.affiliation: Department of Sociology and Anthropology, Ben-Gurion University of the Negev, Beer Sheva, Israel.
authors.forename: Aviad
authors.initials: A
authors.lastname: Raz
authors.affiliation: Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.|Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Ephrat
authors.initials: E
authors.lastname: Levy-Lahad
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology; D005260:Female; D018703:Founder Effect; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling / Q000379:methods; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007585:Jews / Q000235:genetics; D008297:Male; D008403:Mass Screening / Q000379:methods; D008875:Middle Aged; D009154:Mutation; D012017:Referral and Consultation; D011795:Surveys and Questionnaires
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human