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Showing content from https://www.ncbi.nlm.nih.gov/pubmed/27929526 below:

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

. 2017 Jul;19(7):754-762. doi: 10.1038/gim.2016.182. Epub 2016 Dec 8. Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral Ariela Tomer^{1 2}, Avi Ben-Chetrit^{1 3}, Oded Olsha⁴, Shalom Strano⁵, Rachel Beeri², Sivan Koka², Hila Fridman², Karen Djemal⁶, Itzhak Glick⁷, Todd Zalut^{8 9}, Shlomo Segev¹⁰, Miri Sklair^{11 12}, Bella Kaufman^{12 13}, Amnon Lahad^{1 14}, Aviad Raz¹⁵, Ephrat Levy-Lahad^{1 2}

Affiliations

¹ Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
² Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
³ Women's Health Center, Clalit Health Services, Jerusalem, Israel.
⁴ Surgical Department, Shaare Zedek Medical Center, Jerusalem, Israel.
⁵ The Comprehensive Breast Center, Shaare Zedek Medical Center, Jerusalem, Israel.
⁶ Terem Family Medical Center, Jerusalem, Israel.
⁷ Efrat Emergency Medical Center, Efrat, Israel.
⁸ Terem Clinic, Modi'in, Israel.
⁹ Department of Emergency Medicine, Shaare Zedek Medical Center, Jerusalem, Israel.
¹⁰ Institute of Medical Screening, Chaim Sheba Medical Center, Tel Hashomer, Israel.
¹¹ Department of Radiology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
¹² Sackler Faculty of Mediciine, Tel Aviv University Tel Aviv, Israel.
¹³ Institute of Oncology, The Chaim Sheba Medical Center, Tel Hashomer, Israel.
¹⁴ Department of Family Medicine, Clalit Health Services, Jerusalem, Israel.
¹⁵ Department of Sociology and Anthropology, Ben-Gurion University of the Negev, Beer Sheva, Israel.

PMID: 27929526
DOI: 10.1038/gim.2016.182

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

Sari Lieberman et al. Genet Med. 2017 Jul.

Free article . 2017 Jul;19(7):754-762. doi: 10.1038/gim.2016.182. Epub 2016 Dec 8. Authors Sari Lieberman^{1 2}, Ariela Tomer^{1 2}, Avi Ben-Chetrit^{1 3}, Oded Olsha⁴, Shalom Strano⁵, Rachel Beeri², Sivan Koka², Hila Fridman², Karen Djemal⁶, Itzhak Glick⁷, Todd Zalut^{8 9}, Shlomo Segev¹⁰, Miri Sklair^{11 12}, Bella Kaufman^{12 13}, Amnon Lahad^{1 14}, Aviad Raz¹⁵, Ephrat Levy-Lahad^{1 2} Affiliations

¹ Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
² Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
³ Women's Health Center, Clalit Health Services, Jerusalem, Israel.
⁴ Surgical Department, Shaare Zedek Medical Center, Jerusalem, Israel.
⁵ The Comprehensive Breast Center, Shaare Zedek Medical Center, Jerusalem, Israel.
⁶ Terem Family Medical Center, Jerusalem, Israel.
⁷ Efrat Emergency Medical Center, Efrat, Israel.
⁸ Terem Clinic, Modi'in, Israel.
⁹ Department of Emergency Medicine, Shaare Zedek Medical Center, Jerusalem, Israel.
¹⁰ Institute of Medical Screening, Chaim Sheba Medical Center, Tel Hashomer, Israel.
¹¹ Department of Radiology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
¹² Sackler Faculty of Mediciine, Tel Aviv University Tel Aviv, Israel.
¹³ Institute of Oncology, The Chaim Sheba Medical Center, Tel Hashomer, Israel.
¹⁴ Department of Family Medicine, Clalit Health Services, Jerusalem, Israel.
¹⁵ Department of Sociology and Anthropology, Ben-Gurion University of the Negev, Beer Sheva, Israel.

PMID: 27929526
DOI: 10.1038/gim.2016.182

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Erratum in

Correction: Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.
Lieberman S, Tomer A, Ben-Chetrit A, Olsha O, Strano S, Beeri R, Koka S, Fridman H, Djemal K, Glick I, Zalut T, Segev S, Sklair M, Kaufman B, Lahad A, Raz A, Levy-Lahad E. Lieberman S, et al. Genet Med. 2020 Mar;22(3):672. doi: 10.1038/s41436-019-0734-4. Genet Med. 2020. PMID: 31853057

Abstract

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.

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