Cost-effectiveness of Universal Screening for LS
A. Mvundura M, Grosse SD, Hampel H, Palomacki GE. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med. 2010;12:93-104. [Abstract]
Cost effectiveness studies have compared the incremental costs per life year saved for universal screening methods relative to no testing and age-targeted testing (newly diagnosed CRC <50 years). These analyses take into account the cost of the universal screening method, number of cases of Lynch syndrome identified, the cost and lives saved derived from testing, and the identification of and colorectal screening for relatives. The authors found that universal screening falls within the range of acceptable costs for preventive services in the United States. The most cost effective strategy for universal screening is IHC screening with BRAF testing (when applicable) followed by targeted germline genetic testing. If BRAF testing is not feasible, IHC screening followed by targeted genetic testing is also cost effective.
B. Ladabaum U, Wang G, Terdiman J, et al. Strategies to identify the Lynch syndrome among patients with colorectal cancer: A cost-effectiveness analysis. Ann Intern Med. 2011;155:69-79. [Abstract]
Further cost effectiveness studies have compared the incremental costs per life year saved for universal screening methods relative to no testing and clinical criteria strategies (e.g., the Bethesda criteria). This cost effectiveness analysis considered not only the cost and lives saved from colorectal screening, but also considered the costs and lives saved from risk-reducing hysterectomy and bilateral salpingo- oophorectomy in female mutation carriers. While clinical criteria strategies were initially found to be more cost effective than universal screening methods, universal screening methods became most cost effective if any more than 15% of newly diagnosed patients were not clinically screened. Thus, the universal screening strategy of IHC with BRAF testing (when applicable) followed by targeted genetic testing was again preferred.
C. Gausach M, Mur P, Corral J, et al. MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study. Euro J Hum Genet. 2012;20:762-768. [Abstract]
The authors assessed the clinical utility and cost-effectiveness of BRAF testing and MLH1 promoter hypermethylation in colorectal tumors with microsatellite instability with or without loss of MMR protein expression. They determined that hypermethylation studies using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) has very few false negative results, overall outperforms BRAF testing, and is also more cost-effective than BRAF as a pre-screening method prior to proceeding with germline testing.
D. Gudgeon JM, Williams JL, Burt RW, et al. Lynch syndrome screening implementation: Business analysis by a healthcare system. Am J Manag Care. 2011;17:e288-300. [Abstract]
The authors performed simulation modeling of universal screening strategies to determine the most cost effective approach to this process. They concluded that IHC followed by methylation studies is the superior method of screening even relative to strategies that employ BRAF testing, with or without methylation studies. The authors are applying the results of their analysis to guide the implementation of system wide clinical services within Intermountain Healthcare in Utah.