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Cost-Effectiveness of Genomic Screening for Hereditary Breast and Ovarian Cancer

Population-wide genomic screening for hereditary breast and ovarian cancer is cost-effective among younger women but not among older women, according to a study published in JAMA Network Open (2020;3[10]:e2022874. doi:10.1001/jamanetworkopen.2020.22874).

“Genomic screening for hereditary breast and ovarian cancer in unselected women offers an opportunity to prevent cancer morbidity and mortality, but the potential clinical impact and cost-effectiveness of such screening have not been well studied,” wrote Gregory Guzauskas, MSPH, PhD, The Comparative Health Outcomes, Policy & Economics (CHOICE) Institute, Department of Pharmacy, University of Washington, Seattle, and colleagues.

A decision analytic Markov model was developed to estimate the cost-effectiveness of genomic screening for hereditary breast and ovarian cancer among women of different ages. The model included health states for precancer, risk-reducing mastectomy, and risk-reducing salpingo-oophorectomy, for earlier- and later-stage hereditary breast and ovarian cancer, after cancer, and for death.

A cascade testing module estimated the outcomes in first-degree relatives. Researchers also estimated the lifetime incremental incidence of hereditary breast and ovarian cancer and the quality-adjusted life-years, costs, and cost-effectiveness of hereditary breast and ovarian cancer genomic screening in an unselected population vs family history-based testing.

In 30-year-old women, population screening was associated with 75 fewer overall cancer cases (95% credible range [CR], 60-90) and 288 QALYs gained per 100 000 women screened (95% CR, 212-373 QALYs), at an incremental cost of $25 million (95% CR, $21 million to $30 million) vs family history–based testing.

In 45-year-old women, population screening was associated with 24 fewer cancer cases (95% CR, 18-29) and 97 QALYs gained per 100 000 women screened (95% CR, 66-130 QALYs), at an incremental cost of $26 million (95% CR, $22 million to $30 million).

“The results of this study suggest that population [hereditary breast and ovarian cancer] screening may be cost-effective among younger women but not among older women,” concluded Dr Guzauskas and colleagues. “Cascade testing of first-degree relatives added a modest improvement in clinical and economic value.”—Lisa Kuhns


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