Population or family history based BRCA gene tests of breast cancer? A systematic review of economic evaluations

Abstract

Background Nearly 56% of at-risk carriers are not identified and missed as a result of the current family-history (FH) screening for genetic testing. The present study aims to review the economic evaluation studies on BRCA genetic testing strategies for screening and early detection of breast cancer. Methods This systematic literature review is conducted within the Cochrane Library, PubMed, Scopus, Web of Science, ProQuest, and EMBASE databases. In this paper, the relevant published economic evaluation studies are identified by following the standard Cochrane Collaboration methods and adherence to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement reporting some recommendations for articles up to March 2020. Thereafter, the inclusion and exclusion criteria are applied to screen the articles. Disagreements are resolved through a consensus meeting. The Consolidated Health Economic Evaluation Reporting Standards (CHEERS) checklist is used in the evaluation of quality. Finally, a narrative synthesis is performed. To compare the different levels of incremental cost-effectiveness ratio (ICER), the net present value is calculated based on a discount rate of 3% in 2019. Results Among 788 initially retrieved citations, 12 studies were included. More than 60% of the studies were originated from high-income countries and were published after 2016. It is noteworthy that most of the studies evaluated the payer perspective. Moreover, the robustness of the results were analyzed through one-way and probabilistic sensitivity analyses in nearly 66% of these studies. Nearly, 25% of the studies are focused and defined population-based and family history BRCA tests as comparators; afterwards, the cost-effectiveness of the former was confirmed. The highest and lowest absolute values for the ICERs were $65,661 and $9 per quality adjusted life years, respectively. All studies met over 70% of the CHEERs criteria checklist, which was considered as 93% of high quality on average as well. Conclusions The genetic BRCA tests for the general population as well as unselected breast cancer patients were cost-effective in high and upper-middle income countries and those with prevalence of gene mutation while population-based genetic tests for low-middle income countries are depended on the price of the tests.

Economic evaluation of germline genetic testing for breast cancer in low- and middle-income countries: a systematic review

“…The evidence compiled in our review further reinforces the cost-effectiveness of genetic testing in LMICs by incorporating more recent studies published after 2020. Our findings aligned with those reviewed by D’Andrea et al [ 26 ] and Meshkani et al [ 28 ] in highlighting the significance of genetic testing prices as a crucial factor in determining the cost-effectiveness of BC genetic testing especially in Lower MICs such as India [ 37 ]. While our included studies mainly analyze women aged over 30 years [ 37 , 39 , 40 ], it is worth noting that the review summarized by Koldehoff et al [ 27 ] found that most of the included studies focused on women aged 40 years as the preferred age group.…”

“…In contrast to the systematic reviews conducted by D’Andrea et al [ 26 ] and Koldehoff et al [ 27 ], our study encompasses a broader range of genetic testing strategies for BC, including but not limited to BRCA testing, population-based screening, and included those studies without cascade testing. Moreover, we have included the additional three studies from LMICs compared to the previous review by Meshkani et al [ 28 ], who did not impose geographical restrictions on their study selection. The evidence compiled in our review further reinforces the cost-effectiveness of genetic testing in LMICs by incorporating more recent studies published after 2020.…”

Real World Cost-Effectiveness Analysis of Population Screening for BRCA Variants among Ashkenazi Jews Compared with Family History-Based Strategies

“…Both showed that PS for founder variants was highly cost-effective. Meshkani [ 68 ] reviews twelve studies on BRCA testing in the general population. An additional study by Manchanda [ 59 ] compared PS to IFH, in multiple countries, and found that PS was not cost-effective in low-middle income countries, especially with low BRCA prevalence, but that PS was cost-effective in middle-high and high income countries It was recommended to further study cost-effectiveness.…”

Uptake Rates of Risk-Reducing Surgeries for Women at Increased Risk of Hereditary Breast and Ovarian Cancer Applied to Cost-Effectiveness Analyses: A Scoping Systematic Review

“…A literature search was conducted in MEDLINE (via PUBMED) on 21 September 2022 and the Centre for Reviews and Dissemination (CRD) database to search for health economic modeling studies that addressed women who were offered RRM and/or RRSO after screening for germline BRCA mutations. In addition, we screened the studies included in the most recent systematic reviews published on the topic [ 7 , 11 , 12 , 13 , 14 ]. The search strategy is provided in the Supplementary Materials (File S1) .…”