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.
