Abstract P2-12-08: Genetic testing for breast cancer risk estimation: A cost-effectiveness analysis

Genetic testing based on seven single-nucleotide polymorphisms (7SNP) can improve individualized estimates of lifetime risk of breast cancer relative to the Gail risk test alone, for the purpose of recommending MRI screening for women at high risk. An individual-based, continuous-time simulation model of breast cancer and health care processes was used to simulate women in a virtual trial comparing the use of the 7SNP test to the Gail risk test alone to categorize patients as either low risk or high risk. Low risk patients received annual mammogram, while high risk patients received annual MRI. Cancer incidence was based on Surveillance, Epidemiology, and End Results (SEER) data and validated to the Cancer Prevention Study II (CPS-II) Nutrition Cohort data set. Risk factors are drawn from the National Health and Nutrition Examination Survey (NHANES-4) and Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO) data sets. Mammogram characteristics were derived from the Breast Cancer Surveillance Consortium (BCSC) dataset. Other parameters were derived from published literature. The 7SNP test (vs Gail alone) saved 0.00734 quality-adjusted life-years (QALYs) per person at a cost of $1,971 per person ($268,386 per QALY). Limiting the 7SNP test to only those patients with a lifetime Gail risk of 16 - 28% resulted in a cost of $163,264 per QALY. These results were sensitive to the age at which the test is given, the discount rate, and the costs of the genetic test and MRI. The cost-effectiveness of using the 7SNP test for patients with intermediate Gail risk is similar to that of other recommended strategies, including annual MRI for patients with a lifetime risk greater than 20% or BRCA1/2 mutations. Citation Information: Cancer Res 2013;73(24 Suppl): Abstract nr P2-12-08.