Background
Testing has been advocated for all persons with newly diagnosed colorectal cancer to identify families with the Lynch syndrome, an autosomal dominant cancer-predisposition syndrome that is a paradigm for personalized medicine.
Conclusion
Widespread colorectal tumor testing to identify families with the Lynch syndrome could yield substantial benefits at acceptable costs, particularly for women with a mutation associated with the Lynch syndrome who begin regular screening and have risk-reducing surgery. The cost-effectiveness of such testing depends on the participation rate among relatives at risk for the Lynch syndrome. Primary funding source: National Institutes of Health.
Objective
To estimate the effectiveness and cost-effectiveness of strategies to identify the Lynch syndrome, with attention to sex, age at screening, and differential effects for probands and relatives. Design: Markov model that incorporated risk for colorectal, endometrial, and ovarian cancers. Data sources: Published literature. Target population: All persons with newly diagnosed colorectal cancer and their relatives. Time horizon: Lifetime. Perspective: Third-party payer. Intervention: Strategies based on clinical criteria, prediction algorithms, tumor testing, or up-front germline mutation testing, followed by tailored screening and risk-reducing surgery. Outcome measures: Life-years, cancer cases and deaths, costs, and incremental cost-effectiveness ratios.