OA: Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations

Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations : Genetics in Medicine

 The main challenge in conducting a systematic review of economic evaluations derives from their high degree of heterogeneity, meaning that results cannot be pooled across studies by meta-analysis or other quantitative synthesis methods.^12,13 Consequently, the majority of such reviews have presented the results obtained in a narrative format.¹¹

   Our survey of the literature found only nine full economic evaluations of BRCA genetic testing. Most of these were of acceptable quality, although some methodological limitations should be mentioned. For example, the included costs were frequently inadequate. Thus, although the societal perspective is the most appropriate for the analysis of health-care programs and five economic evaluations adopted this perspective, none of the authors included social costs.

In conclusion, the results of this systematic review indicate that, although BRCA1/2 population-based screening is currently an inefficient use of health-care resources, population-based screening of the AJ (Ashkenazi Jewish) community appears to be a good value for the money. Furthermore, it is highly likely that FH-based (family-history) screening will prove cost-effective, although further economic evaluations that include the costs of identifying high-risk women are needed to fully justify this conclusion. This point is crucial because counseling strategies to detect at-risk individuals could involve primary-care physicians, and currently physicians seem to be not yet adequately prepared about hereditary breast cancer and BRCA1/2 testing.^47,48 Finally, in contrast to genetic testing for hereditary colorectal cancer (i.e., Lynch syndrome),^49,50,51 there is no evidence for the cost-effectiveness of screening for BRCA1/2 of newly diagnosed cases of breast and ovarian cancers, followed by cascade testing of relatives. However, cancer-based genetic screening programs for BRCA1/2 that includes tools for identifying women at higher risk for inherited forms are very promising in terms of cost-effectiveness. On the contrary, more high-quality studies are needed to prove the cost-effectiveness of BRCA genetic testing as an instrument of secondary prevention in affected women with predisposing gene mutation.

In any case, the price of BRCA1/2 testing is of paramount importance in determining the cost-effectiveness of BRCA1/2 testing programs.⁴⁴ If the cost of testing falls significantly, then all BRCA1/2 testing strategies analyzed in this review—perhaps including population-based screening—are likely to become highly cost-effective interventions.