Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: A call for dialogue

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


PURPOSE:: About half of unaffected BRCA1/2 carriers have a negative family history, confounding efforts toward presymptomatic carrier identification. Ovarian cancer is preventable for known carriers but is otherwise highly lethal. Cost-effectiveness and gains in life expectancy are important factors in evaluating the desirability of population-based genetic screening, currently the only viable strategy to identify carriers with unrevealing family histories. METHODS:: Cost-utility analysis for a population-based genetic screening program offered to American Ashkenazi Jewish women aged 35-55 years measuring cancer incidence, life expectancy, and cost. RESULTS:: Our model predicts that a genetic screening program would result in 2811 fewer cases of ovarian cancer, with a life expectancy gain of 1.83 quality-adjusted life years among carriers. At a cost of $460 for founder mutation testing, the cost of the program is $8300 (discounted) per year of quality-adjusted life gained. CONCLUSION:: In populations with a high prevalence of BRCA1/2 founder mutations, genetic screening may be cost-effective when compared with recommended public health interventions such as mammographic screening. We advocate the initiation of a dialogue among Jewish stakeholders, genetics professionals, and public health leaders to determine whether a population-based BRCA1/2 genetic screening program should be pursued.

Original languageEnglish (US)
Pages (from-to)629-639
Number of pages11
JournalGenetics in Medicine
Issue number9
StatePublished - Sep 2009


  • BRCA1
  • BRCA2
  • Decision analysis
  • Ovarian carcinoma
  • Population-based genetic screening

ASJC Scopus subject areas

  • Genetics(clinical)


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