ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Initiatives to Scale Up and Expand Reach of Cancer Genomic Services Outside of Specialty Clinical Settings: A Systematic Review.American journal of preventive medicine · 2021Pooled it
- Knowledge, attitudes, and self-efficacy toward cancer genetic testing among Black women with and without breast cancer.Cancer causes & control : CCC · 2026Article
- Comparative Analysis ofJCO precision oncology · 2026Article
- The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.Cancers · 2023Article
- Ethical, legal, and social implications (ELSI) and challenges in the design of a randomized controlled trial to test the online return of cancer genetic research results to U.S. Black women.Contemporary clinical trials · 2023Article
- Diagnostic yield of genetic screening in a diverse, community-ascertained cohort.Genome medicine · 2023Article
- Residential Locale Is Associated with Disparities in Genetic Testing-Related Outcomes Among BRCA1/2-Positive Women.Journal of racial and ethnic health disparities · 2023Article
- Article
- Rate of breast biopsy referrals in female BRCA mutation carriers aged 50 years or more: a retrospective comparative study and matched analysis.Breast cancer research and treatment · 2022Article
- Attitudes and interest in incorporating BRCA1/2 cancer susceptibility testing into reproductive carrier screening for Ashkenazi Jewish men and women.Journal of community genetics · 2022Article
- Unselected Population Genetic Testing for Personalised Ovarian Cancer Risk Prediction: A Qualitative Study Using Semi-Structured Interviews.Diagnostics (Basel, Switzerland) · 2022Article
- Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Observational
- Investigating men's motivations to engage in genetic screening for BRCA1 and BRCA2 mutations.PloS one · 2022Article
- From the patient to the population: Use of genomics for population screening.Frontiers in genetics · 2022Article
- Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia.Journal of translational medicine · 2021Article
- Economic Evaluation of Population-BasedCancers · 2020Article
- Online BRCA1/2 screening in the Australian Jewish community: a qualitative study.Journal of community genetics · 2020Article
- Article
- Review
- Familial communication and cascade testing among relatives of BRCA population screening participants.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
Corrections and comments
- Erratum issued
Authors and funding
17 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePopulation 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.
methodsUnaffected 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.
resultsOf 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.
conclusionStreamlined 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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