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

Marco Di Marco, Elvira DAndrea, Nikola Panic, Valentina Baccolini, Giuseppe Migliara, Carolina Marzuillo, Corrado De Vito, Roberta Pastorino, Stefania Boccia, Paolo Villari

Research output: Contribution to journalReview articlepeer-review


Purpose: Lynch 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.” Methods: We 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. Results: Overall, 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. Conclusion: Universal or <70 years–age-targeted CRC-based LS screening programs are cost-effective and should be implemented in the “real world.”

Original languageEnglish
Pages (from-to)1131-1144
Number of pages14
JournalGenetics in Medicine
Issue number10
Publication statusPublished - Oct 1 2018

ASJC Scopus subject areas

  • Genetics(clinical)


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