OA: Cost Comparison of Genetic Testing Strategies in Women With Epithelial Ovarian Cancer

Journal of Oncology Practice

 Our study was limited by the degree to which family history could be incorporated. Given the available data, we could not account for a family history of colon cancer or pancreatic cancer or a personal history of breast cancer. Race and cultural ethnicity were also beyond the scope of our model. This study was also limited by the fact that our decision model did not consider patient preferences.

Abstract

Purpose:

The advent of multigene panels has increased genetic testing options for women with epithelial ovarian cancer (EOC). We designed a decision model to compare costs and probabilities of identifying a deleterious mutation or variant of uncertain significance (VUS) using different genetic testing strategies.

Methods:

A decision model was developed to compare costs and outcomes of two testing strategies for women with EOC: multigene testing (MGT) versus single-gene testing for BRCA1/2. Outcomes were mean cost and number of deleterious mutations and VUSs identified. Model inputs were obtained from published genetic testing data in EOC. One-way sensitivity analyses and Monte Carlo probabilistic sensitivity analyses were performed.

Results:

No family history model: MGT cost $1,160 more on average than BRCA1/2 testing and identified an additional 3.8 deleterious mutations for every 100 women tested. For each additional deleterious mutation identified, MGT cost $30,812 and identified 5.4 additional VUSs.
Family history model: MGT cost $654 more on average and identified an additional 7.0 deleterious mutations for every 100 women tested. For each additional deleterious mutation identified, MGT cost $9,909 and identified 2.6 additional VUSs.

Conclusion:

MGT was associated with a higher additional cost per deleterious mutation identified and a higher ratio of VUS burden to actionable information in women with no family history as compared with women with a family history. Family history should be considered when determining an initial genetic testing platform in women with EOC.

INTRODUCTION

Up to 25% of epithelial ovarian cancers (EOCs) now have an identifiable hereditary cause. BRCA1, BRCA2, and the related family of homologous recombination genes alone are estimated to be prevalent in 20% to 25% of women with EOC.^1-3 As such, the Society of Gynecologic Oncology and the National Comprehensive Cancer Network (NCCN) have issued guidelines stipulating that all women with a diagnosis of ovarian, tubal, or peritoneal cancer receive genetic counseling and be offered genetic testing.⁴ Given that the risk of hereditary ovarian cancer is highest among women with BRCA1/2 genetic mutations, the guidelines focus on BRCA1/2 testing but acknowledge the importance of multigene testing (MGT) if indicated during genetic counseling.^4,5.....