The Use of Gene Tests to Detect Hereditary Predisposition to Cancer: Economic Considerations

Several mutations recently have been shown to be associated with hereditary nonpolyposis colon cancer (HNPCC) in families displaying unusually strong predisposition to colorectal cancer. Laboratory tests to detect such gene muta-tions soon will be commercially available, raising the pos-sibility for population-wide screening. The purpose of this study was to explore the economic implications of conduct-ing a population-wide screening for HNPCC compared with restricted screening among members of the families at high risk. An exploratory analysis was performed to determine which factors are most important in determining the cost-effectiveness of such a testing program. The base-case analysis focuses on current uncertainty about the population prevalence of the HNPCC genotype and phenotype. The un-certainty with regard to parameters related to the cost-effec