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Cost-Effectiveness of Targeted Genetic Testing for Breast and Ovarian Cancer: A Systematic Review

  • Author Footnotes
    ∗ Andreas Koldehoff and Marion Danner contributed equally to the manuscript.
    Andreas Koldehoff
    Footnotes
    ∗ Andreas Koldehoff and Marion Danner contributed equally to the manuscript.
    Affiliations
    Department of Anaesthesiology, Ruhr-Universität Bochum (RUB), Bochum, Germany
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  • Author Footnotes
    ∗ Andreas Koldehoff and Marion Danner contributed equally to the manuscript.
    Marion Danner
    Footnotes
    ∗ Andreas Koldehoff and Marion Danner contributed equally to the manuscript.
    Affiliations
    University Hospital Schleswig-Holstein, SHARE TO CARE Team, Department of General Pediatrics, Kiel, Germany
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  • Daniele Civello
    Affiliations
    Cologne Institute for Health Economics and Clinical Epidemiology, University Hospital of Cologne (AöR), Cologne, Germany
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  • Kerstin Rhiem
    Affiliations
    Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne (AöR), Cologne, Germany
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  • Stephanie Stock
    Affiliations
    Cologne Institute for Health Economics and Clinical Epidemiology, University Hospital of Cologne (AöR), Cologne, Germany
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  • Dirk Müller
    Correspondence
    Correspondence: Dirk Müller, PhD, Cologne Institute for Health Economics and Clinical Epidemiology, University Hospital of Cologne (AöR), Gleueler Str 176-178, 50935 Cologne/Köln, Germany.
    Affiliations
    Cologne Institute for Health Economics and Clinical Epidemiology, University Hospital of Cologne (AöR), Cologne, Germany
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  • Author Footnotes
    ∗ Andreas Koldehoff and Marion Danner contributed equally to the manuscript.
Published:December 19, 2020DOI:https://doi.org/10.1016/j.jval.2020.09.016

      Highlights

      • Targeted screening approaches based on BRCA1 and on BRCA2 or multiple genes are likely to be cost-effective for women without cancer and for women with cancer and their unaffected relatives.
      • Uptake rates of surgery and mutation penetrance are based on heterogeneous data sources and often are considered to be sensitive parameters for the cost-effectiveness ratio.
      • In most models, data on utility rarely reflects a woman’s emotional and psychological distress or relief associated with the carrier status and physical or psychological long-term effects of surgical prevention.
      • Decision makers should be aware of the methodological variations and the reporting quality of the studies.

      Abstract

      Background

      Targeted genetic testing is a tool to identify women at increased risk of gynaecological cancer.

      Objective

      This systematic review evaluates the results and quality of cost-effectiveness modeling studies that assessed targeted genetic-based screen-and-treat strategies to prevent breast and ovarian cancer.

      Methods

      Using MEDLINE and databases of the Centre for Reviews and Dissemination, we searched for health economic modeling evaluations of targeted genetic-based screen-and-treat strategies to prevent inheritable breast and ovarian cancer (until August 2020). The incremental cost-effectiveness ratios (ICERs) were compared. Methodological variations were addressed by evaluating the model conceptualizations, the modeling techniques, parameter estimation and uncertainty, and transparency and validation of the models. Additionally, the reporting quality of each study was assessed.

      Results

      Eighteen studies met our inclusion criteria. From a payer perspective, the ICERs of (1) BRCA screening for high-risk women without cancer ranged from dominating the no test strategy to an ICER of $21 700/quality-adjusted life years (QALY). In studies that evaluated (2) BRCA cascade screening (ie, screening of women with cancer plus their unaffected relatives) compared with no test, the ICERs were between $6500/QALY and $50 200/QALY. Compared with BRCA alone, (3) multigene testing in women without cancer had an ICER of $51 800/QALY (one study), while for (4) multigene-cascade screening the ICERs were $15 600/QALY, $56.500/QALY, and $69 600/QALY for women in the United Kingdom, Norway, and the United States, respectively (2 studies). More recently published studies showed a higher methodological and reporting quality.

      Conclusions

      Targeted BRCA or multiple gene screening is likely to be cost-effective. Methodological variations could be decreased by the development of a reference model, which may serve as a tool for validation of present and future cost-effectiveness models.

      Keywords

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