Mercy Mvundura1, Scott D Grosse, Heather Hampel, Glenn E Palomaki. 1. Office of Public Health Genomics, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Abstract
PURPOSE: To estimate the cost-effectiveness of genetic testing strategies to identify Lynch syndrome among newly diagnosed patients with colorectal cancer and to offer targeted testing to relatives of patients with Lynch syndrome. METHODS: We calculated incremental costs per life-year saved for universal testing relative to no testing and age-targeted testing for strategies that use preliminary genetic tests (immunohistochemistry or microsatellite instability) of tumors followed by sequencing of mismatch repair genes. We also calculated incremental cost-effectiveness ratios for pairs of testing strategies. RESULTS: Strategies to test for Lynch syndrome in newly diagnosed colorectal tumors using preliminary tests before gene sequencing have incremental cost-effectiveness ratios of <or=$45,000 per life-year saved compared with no testing and <or=$75,000 per life-year saved compared with testing restricted to patients younger than 50 years. The lowest cost testing strategies, using immunohistochemistry as a preliminary test, cost <or=$25,000 per life-year saved relative to no testing and <or=$40,000 per life-year saved relative to testing only patients younger than 50 years. Other testing strategies have incremental cost-effectiveness ratios >or=$700,000 per life-year saved relative to the lowest cost strategies. Increasing the number of relatives tested would improve cost-effectiveness. CONCLUSION: Laboratory-based strategies using preliminary tests seem cost-effective from the US health care system perspective. Universal testing detects nearly twice as many cases of Lynch syndrome as targeting younger patients and has an incremental cost-effectiveness ratio comparable with other preventive services. This finding provides support for a recent US recommendation to offer testing for Lynch syndrome to all newly diagnosed patients with colorectal cancer.
PURPOSE: To estimate the cost-effectiveness of genetic testing strategies to identify Lynch syndrome among newly diagnosed patients with colorectal cancer and to offer targeted testing to relatives of patients with Lynch syndrome. METHODS: We calculated incremental costs per life-year saved for universal testing relative to no testing and age-targeted testing for strategies that use preliminary genetic tests (immunohistochemistry or microsatellite instability) of tumors followed by sequencing of mismatch repair genes. We also calculated incremental cost-effectiveness ratios for pairs of testing strategies. RESULTS: Strategies to test for Lynch syndrome in newly diagnosed colorectal tumors using preliminary tests before gene sequencing have incremental cost-effectiveness ratios of <or=$45,000 per life-year saved compared with no testing and <or=$75,000 per life-year saved compared with testing restricted to patients younger than 50 years. The lowest cost testing strategies, using immunohistochemistry as a preliminary test, cost <or=$25,000 per life-year saved relative to no testing and <or=$40,000 per life-year saved relative to testing only patients younger than 50 years. Other testing strategies have incremental cost-effectiveness ratios >or=$700,000 per life-year saved relative to the lowest cost strategies. Increasing the number of relatives tested would improve cost-effectiveness. CONCLUSION: Laboratory-based strategies using preliminary tests seem cost-effective from the US health care system perspective. Universal testing detects nearly twice as many cases of Lynch syndrome as targeting younger patients and has an incremental cost-effectiveness ratio comparable with other preventive services. This finding provides support for a recent US recommendation to offer testing for Lynch syndrome to all newly diagnosed patients with colorectal cancer.
Authors: Aparna Mukherjee; Thomas J McGarrity; Francesca Ruggiero; Walter Koltun; Kevin McKenna; Lisa Poritz; Maria J Baker Journal: Hered Cancer Clin Pract Date: 2010-11-22 Impact factor: 2.857
Authors: Scott M Weissman; Randall Burt; James Church; Steve Erdman; Heather Hampel; Spring Holter; Kory Jasperson; Matt F Kalady; Joy Larsen Haidle; Henry T Lynch; Selvi Palaniappan; Paul E Wise; Leigha Senter Journal: J Genet Couns Date: 2011-12-14 Impact factor: 2.537
Authors: Wolf H Rogowski; Scott D Grosse; Jürgen John; Helena Kääriäinen; Alastair Kent; Ulf Kristofferson; Jörg Schmidtke Journal: J Community Genet Date: 2010-10-16
Authors: Daniel D Buchanan; Mark Clendenning; Christophe Rosty; Dallas English; Mark A Jenkins; Stine V Eriksen; Michael D Walsh; Rhiannon J Walters; Stephen N Thibodeau; Jenna Stewart; Susan Preston; Aung Ko Win; Louisa Flander; Driss Ait Ouakrim; Finlay A Macrae; Alex Boussioutas; Ingrid M Winship; Graham G Giles; John L Hopper; Melissa C Southey Journal: J Gastroenterol Hepatol Date: 2017-02 Impact factor: 4.029
Authors: Carlos J Gallego; Caroline S Bennette; Patrick Heagerty; Bryan Comstock; Martha Horike-Pyne; Fuki Hisama; Laura M Amendola; Robin L Bennett; Michael O Dorschner; Peter Tarczy-Hornoch; William M Grady; S Malia Fullerton; Susan B Trinidad; Dean A Regier; Deborah A Nickerson; Wylie Burke; Donald L Patrick; Gail P Jarvik; David L Veenstra Journal: Contemp Clin Trials Date: 2014-07-03 Impact factor: 2.226