PT - JOURNAL ARTICLE AU - Islam Salikhanov AU - Karl Heinimann AU - Pierre Chappuis AU - Nicole Buerki AU - Rossella Graffeo AU - Viola Heinzelmann AU - Manuela Rabaglio AU - Monica Taborelli AU - Simon Wieser AU - Maria C. Katapodi TI - Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives AID - 10.1136/jmedgenet-2021-108062 DP - 2022 Sep 01 TA - Journal of Medical Genetics PG - 924--930 VI - 59 IP - 9 4099 - http://jmg.bmj.com/content/59/9/924.short 4100 - http://jmg.bmj.com/content/59/9/924.full SO - J Med Genet2022 Sep 01; 59 AB - Background We estimated the cost-effectiveness of universal DNA screening for Lynch syndrome (LS) among newly diagnosed patients with colorectal cancer (CRC) followed by cascade screening of relatives from the Swiss healthcare system perspective.Methods We integrated decision trees with Markov models to calculate incremental cost per quality-adjusted life-year saved by screening all patients with CRC (alternative strategy) compared with CRC tumour-based testing followed by DNA sequencing (current strategy).Results The alternative strategy has an incremental cost-effectiveness ratio of CHF65 058 compared with the current strategy, which is cost-effective according to Swiss standards. Based on annual incidence of CRC in Switzerland, universal DNA screening correctly identifies all 123 patients with CRC with LS, prevents 17 LS deaths and avoids 19 CRC cases, while the current strategy leads to 32 false negative results and 253 LS cases lost to follow-up. One way and probabilistic sensitivity analyses showed that universal DNA testing is cost-effective in around 80% of scenarios, and that the cost of DNA testing and the number of invited relatives per LS case determine the cost-effectiveness ratio.Conclusion Results can inform policymakers, healthcare providers and insurance companies about the costs and benefits associated with universal screening for LS and cascade genetic testing of relatives.All data relevant to the study are included in the article or uploaded as supplementary information.