Cost-utility analysis of genetic polymorphism universal screening in colorectal cancer prevention by detection of high-risk individuals

Abstract

BackgroundIn the past 15 years numerous studies have been published on the involvement of low-penetrance susceptibility genes on the risk for developing colorectal cancer (CRC). AimTo perform an economic analysis of blood genetic testing in CRC screening in a population-based nationwide setting using polymorphisms in prostaglandin E2 pathway genes as proof of concept. MethodsA cost-utility analysis was performed from a societal perspective in Portugal comparing two strategies: blood genetic testing by the age of 40 versus no genetic screening under different assumptions of the cost of genetic testing (€10 and €30) and expected risk (1.5 to 5-fold). The adopted threshold was set at €44,870 (USD 50,000). The primary outcome was the incremental cost-effectiveness ratio (ICER) for a base case scenario. ResultsPolymorphism genotyping provided cost-utility only under the assumption of a 5-fold increased risk in the general population, providing ICERs of €44,356 and €30,389 for €30 and €10 tests, respectively. ConclusionBlood genetic screening for colorectal cancer has cost-utility only under specific assumptions of increased CRC risk and conservative cost estimates. Future studies should focus on defining genetic profiles because single-gene approaches are very unlikely to be cost-effective considering their modest predictive value.