Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population.

ABSTRACT: In current clinical practice, genetic testing to detect Lynch syndrome mutations ideally begins with diagnostic testing of an individual affected with cancer before offering predictive testing to at-risk relatives. An alternative strategy that warrants exploration involves screening unaffected individuals via demographic and family histories, and offering genetic testing to those individuals whose risks for carrying a mutation exceed a selected threshold. Whether this approach would improve health outcomes in a manner that is cost-effective relative to current standards of care has yet to be demonstrated. To do so, we developed a simulation framework that integrated models of colorectal and endometrial cancers with a 5-generation family history model to predict health and economic outcomes

SUBMITTER: Dinh TA 

PROVIDER: S-EPMC3793254 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature