Related Experiment Video
Updated: Aug 11, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
An economic viewpoint on alternative strategies for identifying persons with hereditary nonpolyposis colorectal
Scott D Ramsey1, Wylie Burke, Lauren Clarke
1Fred Hutchinson Cancer Research Center, and Department of Medicine, University of Washington, Seattle, Washington, USA.
Purpose:
There is uncertainty regarding the optimal strategy for identifying mutation carriers among those with hereditary nonpolyposis colorectal cancer (HNPCC).
Methods:
We used decision analysis to compare the cost-effectiveness of 4 strategies among those with newly diagnosed colon cancer: (1) clinical and family history followed by microsatellite instability testing and germline testing (Bethesda guidelines); (2) universal microsatellite instability testing; (3) germline testing of those who meet clinical and family history criteria; and (4) universal germline testing.
Results:
The added cost per year of life saved (YLS) for each strategy was as follows: (1) 11,865 US dollars/YLS, (2) 35,617 US dollars/YLS, (3) 49,702 US dollars/YLS, and (4) 267,548 US dollars/YLS.
Conclusions:
The Bethesda guidelines are the most cost-effectiveness approach to screen persons for HNPCC.
