Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations.

Di Marco M1, D'Andrea E1,2, Panic N3,4, Baccolini V1, Migliara G1, Marzuillo C1, De Vito C1, Pastorino R4, Boccia S5, Villari P1.

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Abstract

PurposeLynch syndrome (LS) screening can significantly reduce cancer morbidity and mortality in mutation carriers. Our aim was to identify cost-effective LS screening programs that can be implemented in the "real world."MethodsWe performed a systematic review of full economic evaluations of genetic screening for LS in different target populations; health outcomes were estimated in life-years gained or quality-adjusted life-years.ResultsOverall, 20 studies were included in the systematic review. Based on the study populations, we identified six categories of LS screening program: colorectal cancer (CRC)-based, endometrial cancer-based, general population-based, LS family registry-based, cascade testing-based, and genetics clinic-based screening programs. We performed an in-depth analysis of CRC-based LS programs, classifying them into three additional subcategories: universal, age-targeted, and selective. In five studies, universal programs based on immunohistochemistry, either alone or in combination with the BRAF test, were cost-effective compared with no screening, while in two studies age-targeted programs with a cutoff of 70 years were cost-effective when compared with age-targeted programs with lower age thresholds.ConclusionUniversal or <70 years-age-targeted CRC-based LS screening programs are cost-effective and should be implemented in the "real world."GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.244.