Population-based genetic testing coupled with MRI makes economic sense, averts more cancer deaths

Population-based genetic testing coupled with MRI makes economic sense and can save lives, according to new research published in JAMA Network Open [1]. 

Carriers of pathogenic variants in BRCA1 and BRCA1 are at an elevated risk of developing cancers of the breast and ovaries. Current Canadian practice guidelines recommend women undertake genetic testing if they fulfill certain clinical or family history criteria, experts noted. However, this approach misses about 50% of pathogenic variant carriers among individuals with cancer. 

Researchers sought to examine the possibility of BRCA1/BRCA2 testing for all women in the general population at age 30, rather than the family history-based methodology. Under their simulation study, BRCA carriers would be offered risk-reducing removal of the ovaries and fallopian tubes, MRI and mammography screening, medical prevention and mastectomy. 

Lead author Li Sun, PhD, and colleagues found that population-based genetic testing was cost effective while preventing an additional 2,555 breast cancer cases and 485 ovarian cancers across the Canadian population. 

“In this economic evaluation, population-based BRCA testing was cost-effective compared with [family history]-based testing in Canada from payer and societal perspectives,” Sun, with Queen Mary University of London’s Center for Cancer Screening, Prevention and Early Diagnosis, and colleagues concluded. “These findings suggest that changing the genetic testing paradigm to population-based testing could prevent thousands of breast and ovarian cancers.”

Under the study’s model, women with BRCA-negative results were assumed to receive mammography every two years from 50 to 74. Meanwhile, women with positive results received enhanced screening of annual mammograms from age 40 to 69 and annual MRI from age 30 to 49. The simulation included 1 million Canadian women at age 30. It incorporated a base case incremental cost-effectiveness ratio of about $23,403 (USD) per quality-adjusted life years from the payer perspective and $11,903 from the societal perspective. These numbers are “well below” the established Canadian cost-effectiveness thresholds, the authors noted. 

Population testing remained cost-effective for ages 40 to 60 but not at 70. More than 99% of simulations from payer and societal perspectives were deemed cost-effective at the $36,254 per quality-adjusted life year willingness-to-pay threshold. Along with catching more cases, Sun and co-authors noted that population-based genetic testing could avert 196 breast cancer deaths and 163 ovarian cancer deaths per 1 million in population. 

“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,” the authors advised. “Context-specific implementation strategies and pathways for population-based genetic testing need to be developed. 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 models. This is essential for population genomics to achieve its potential for maximizing cancer prevention.”