Cost-effectiveness analysis of population-based screening for 6-gene panel testing for hereditary breast and ovarian cancer.

Abstract

10541 Background: Genetic testing for hereditary breast and ovarian cancer (HBOC) has relied on clinical and family history criteria. This approach, has been shown to overlook a significant number of mutation carriers who could benefit from preventative measures. Increasing evidence supports genetic testing in an unselected population, which facilitates the identification of more carriers and allows for the implementation of risk reduction strategies. The aim of this study is to evaluate the cost-effectiveness of utilising an expanded gene-panel in an unselected female population. Methods: A Microsoft Excel-based simulation model of a hypothetical cohort of unselected and previously untested 30 years old women was devised to assess three strategies. Strategy 1: genetic testing of unselected women for mutations of a 6-gene panel BRCA1 , BRCA2 , PALB2 , ATM , CHEK2 and TP53 , Strategy 2: screening to individuals fulfilling family history (FH) criteria for HBOC testing and Strategy 3: no genetic screening. New Generation sequencing (NGS) using TrueSight hereditary cancer panel from Illumina was used as testing platform. The analysis includes quality adjusted life year (QALY) as a health outcome. The incremental cost-effectives ratio (ICER) is calculated using health-care costs and QALYs per treatment strategy, illustrating the additional cost in relation to the additional health benefit (QALYs) associated with the 6 gene-panel strategy compared to the FH-based strategy. One-way sensitivity analyses expressed as ICER, evaluates the uncertainty and the impact of specific parameters on the results. Results: A cohort of100 000 unselected women was simulated through the model over 80 cycles as well as women meeting criteria for HBOC investigation. The mutation carriers detected were 1307 and 191 for the unselected population group and FH respectively. As direct effect, 339 risk reducing surgeries (mastectomy or/and salpingo-oophorectomy) were performed in the strategy 1 compared with 50 in the strategy 2. The probabilistic analysis shows that if the willingness to pay is €100.000 per QALY, the unselected population-based testing has 75% probability of being cost-effective. Conclusions: Population-based screening with a six-gene panel has 75% probability to be cost-effective if the willingness to pay is over €100 000. This strategy reduces the number of (HBOC) cases and cancer specific mortality which strengthens the benefits of this screening strategy in cancer prevention. Outcomes. Scenario Outcomes Population-based FH-based Difference Life years 2 713 534 2 713 369 165 QALY 2 147 507 2 147 312 196 Cost per life years gained (€) 98 079 ICER (cost per QALY gained) (€) 82 642 Costs (€) Screening 13 311 720 163 417 13 148 304 Risk reducing Surgery 4 557 420 666 608 3 890 812 Surveillance 45 330 899 43 413 884 1 917 015 Cancer 180 119 575 182 884 672 -2 765 098 Total Cost 243 319 615 227 128 581 16 191 034