Population screening for BRCA1/BRCA2 mutations: Lessons from qualitative analysis of the screening experience

Sari Lieberman*, Amnon Lahad, Ariela Tomer, Carmit Cohen, Ephrat Levy-Lahad, Aviad Raz

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Purpose:Population screening for BRCA1/BRCA2. mutations is being considered for Ashkenazi Jews (AJ) because 2.5% carry recurrent deleterious mutations and effective cancer prevention exists. This study aimed to provide a qualitative focus on perspectives of individuals, particularly carriers, who were tested through a screening trial. In this trial, the pretest process included only written information.Methods:Interviews were performed with 26 carriers and 10 noncarriers who participated in a BRCA population screening trial for AJ.Results:Attitudes toward screening were generally positive. The main motivator for testing was knowledge of BRCA status to enable cancer risk reduction. Knowledge of carrier status, although challenging, was thus viewed as health-empowering. The screening paradigm was sensed as increasing awareness and as overcoming access, referral, and familial barriers. Streamlining the pretest process was positively perceived as offering gradual, stepwise knowledge commensurate with test results. Participants were concerned that health systems provide the necessary conceptual and infrastructural framework and that individual autonomy be maintained.Conclusions:BRCA screening in AJ is viewed favorably, even by carriers. Stepwise acquisition of knowledge based on test results was viewed as most relevant to the screening context. Screening program development should account for safeguarding autonomy and providing requisite post-test services.

Original languageAmerican English
Pages (from-to)628-634
Number of pages7
JournalGenetics in Medicine
Issue number6
StatePublished - 1 Jun 2017

Bibliographical note

Publisher Copyright:
© 2016 American College of Medical Genetics and Genomics.


  • Ashkenazi Jewish
  • BRCA
  • population screening
  • psychosocial outcomes
  • qualitative analysis


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