Cost-effectiveness of genetic risk-stratified screening for breast cancer in Taiwan

Risk-stratified breast screening has gained international attention, as individualized risk assessments can inform screening initiation, frequency, and whether to screen. In this study, we evaluated the cost-effectiveness of risk-stratified screening based on genetic testing for breast cancer-associated single nucleotide polymorphisms (SNPs) compared to the current age-based screening program in Taiwan.

A Markov model was used to estimate lifetime health outcomes and costs for 35-year-old Taiwanese women without a family history of breast cancer. The model adopted the healthcare payer's perspective, applied a 3 % annual discount rate, and utilized epidemiological and cost data primarily derived from Taiwanese sources whenever possible. Scenario analyses included various percentile thresholds used to define polygenic risk groups in the risk-stratified screening strategy. Within this strategy, no screening was modeled for women in the low-risk group, while those in the intermediate- and high-risk groups were offered standard biennial mammography, beginning at ages 40 and 35, respectively, and continuing until 69.

Compared to the current age-based mammogram-only screening, polygenic risk scores (PRS)-informed risk-stratified breast cancer screening generated additional costs and quality-adjusted life years (QALYs), with an incremental cost-effectiveness ratio (ICER) of US$75.71/QALY. Scenario analyses using different PRS cutoffs consistently yielded ICERs well below one time Taiwan's gross domestic product per capita per QALY, suggesting cost-effectiveness of genetic risk-stratified screening.

Incorporating polygenic risk into the current breast cancer screening program may improve health outcomes at an acceptable cost. These findings support implementing risk-stratified screening in future policy.