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    Genet Med. 2009 Sep;11(9):629-39.

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

    Rubinstein WS, Jiang H, Dellefave L, Rademaker AW.

    NorthShore University HealthSystem Center for Medical Genetics, Northwestern University Feinberg School of Medicine, 1000 Central Street, Suite 620, Evanston, IL 60201, USA. wrubinstein@northshore.org

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    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 USD for founder mutation testing, the cost of the program is 8300 USD(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.

    PMID: 19606050 [PubMed - indexed for MEDLINE]

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