Experiences from a pilot program bringing BRCA1/2 genetic screening to theUS Ashkenazi Jewish population

Chana Wiesman, Esther Rose, Allison Grant, Adam Zimilover, Susan D. Klugman, Nicole Schreiber-Agus

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

Purpose:The notion of offering population-based screening to the Ashkenazi Jewish (AJ) population for the BRCA1/2 founder mutations continues to gain support. A program called the BRCAcommunity initiative was designed to identify the benefits and barriers associated with implementing this screening in a clinical setting.Methods:Interested AJ individuals were stratified into high-risk (HR) and low-risk (LR) groups based on self-reported cancer histories. Those at HR were offered traditional genetic counseling/testing; those at LR were offered group genetic counseling and subsidized AJ BRCA founder mutation testing.Results:During the pilot year, 62% of initial registrants and 53% of ultimate study participants were classified into the HR group. Among the 101 HR and 88 LR study participants, 8 and 2 BRCA carriers were identified, respectively. The LR carriers would have been missed by current mechanisms. Survey responses provided insight into the motivations and fears associated with pursuing testing, the efficacy of the initiative design, and challenges that exist on multiple levels, including the community, health-care providers, and insurance coverage.Conclusion:Although the medical value of identifying presymptomatic BRCA carriers in Ashkenazi Jews is evident, further measures need to be taken before this effort can be accomplished on a large scale.

Original languageEnglish (US)
Pages (from-to)529-536
Number of pages8
JournalGenetics in Medicine
Volume19
Issue number5
DOIs
Publication statusPublished - May 1 2017

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Keywords

  • Ashkenazi Jewish
  • BRCA testing
  • group genetic counseling
  • hereditary cancer risk
  • population screening

ASJC Scopus subject areas

  • Genetics(clinical)

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