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Population Testing for BRCA1/2 Appears Cost-Effective in Younger Canadian Women

NEW YORK – Findings from an economics-focused study suggest that population testing for breast- and ovarian cancer-related variants in the BRCA1 and BRCA2 genes is cost-effective in a Canadian healthcare context.

In a paper appearing in JAMA Network Open on Thursday, researchers from Queen Mary University of London, the London School of Hygiene and Tropical Medicine, the University of British Columbia, and elsewhere performed a Markov model-based simulation analysis of 1 million 30-year-old Canadian women, and compared lifetime costs and outcomes in population-wide BRCA1/2 testing versus a setting where individuals received targeted testing based on their family histories.

"The increasing public awareness and acceptability of genetic testing and decreasing costs, coupled with computational and technological advancements, provide the ability to implement large-scale population-based genetic testing for actionable tier 1 genes, like BRCA1 and BRCA2," senior and corresponding author Ranjit Manchanda from Queen Mary University of London, the London School of Hygiene and Tropical Medicine, University College London, and the Royal London Hospital and his colleagues explained in their paper.

When the team considered the incremental cost-effectiveness ratio (ICER) for each quality-adjusted life-year (QALY) together with breast cancer, ovarian cancer, and heart disease death outcomes, it saw a payor-based ICER of nearly C$32,300 (US$23,400) per QALY with the population screening approach.

From a societal standpoint, meanwhile, the investigators found that the ICER per QALY came in at just over C$16,400 with population-based BRCA testing compared to testing based on family history.

Together, the results suggested that ICERs for BRCA1/2 testing among unselected women in Canada was "well below the established Canadian cost-effectiveness thresholds," the authors reported.

They saw similar cost-effectiveness when performing simulations on Canadian women between the ages of 40 and 60 years old, though the researchers noted that the cost-effectiveness of BRCA1/2 population testing broke down in elderly women who were 70 years old.

Likewise, in a series of subsequent simulation analyses, the team found that the population test-based approach met a cost-effectiveness threshold of C$50,000 per QALY in some 99 percent of the 5,000 simulations performed.

"The findings of the economic evaluation support the potential cost-effectiveness of BRCA1/BRCA2 genetic testing on a broader scale in the Canadian general population, which could prevent thousands more [breast cancer] and [ovarian cancer] diagnoses and deaths than [family history]-based testing," the authors wrote.

Indeed, the investigators estimated that some 2,555 breast cancer cases and 485 cases of ovarian cancer could be averted in Canadian women via population-wide BRCA1/2 testing, which coincides with roughly 196 fewer breast cancer deaths and 163 fewer deaths due to ovarian cancer per 1 million individuals.

"Implementation studies providing data on the impact of population-based BRCA testing under real-world settings are ongoing, including ongoing project surveys of the Canadian population about preferences and ideal implementation methods," the authors concluded, noting that such endeavors are "essential for population genomics to achieve its potential for maximizing cancer prevention."